J. Lupski

J. Lupski, A. Kochański, I. Hausmanowa-Petrusewicz, 2007, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

CMT4A: Identification of a Hispanic GDAP1 founder mutation

J. Lupski, C. Boerkoel, M. Nakagawa, 2003, Annals of neurology.

Unusual electrophysiological findings in X‐linked dominant Charcot‐Marie‐Tooth disease

J. Lupski, J. England, A. Sumner, 2000, Muscle & nerve.

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

P. Stankiewicz, S. Rosengren, E. Roeder, 2008, Nature Genetics.

Outbreak following a Vaccination Campaign Changing Nature of a Meningococcal Molecular Epidemiological Analysis of the

Keller, J. Lupski, A. Beaudet, 2002 .

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

J. Lupski, W. Wiszniewski, M. Khajavi, 2005, American journal of human genetics.

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy

J. Lupski, C. Boerkoel, H. Takashima, 2001, Genetics in Medicine.

Longitudinal studies of the duplication form of Charcot‐Marie‐Tooth polyneuropathy

J. Lupski, J. Killian, R. Jackson, 1996, Muscle & nerve.

Comparison of Single-Strand Conformation Polymorphism and Heteroduplex Analysis for Detection of Mutations in Charcot-Marie-Tooth Type 1 Disease and Related Peripheral Neuropathies

J. Lupski, C. Broeckhoven, P. Chance, 1996, European journal of human genetics : EJHG.

INVITED EDITORIAL Axonal Charcot-Marie-Tooth Disease and the Neurofilament Light

J. Lupski, 2022 .

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

J. Lupski, K. Szigeti, D. Sherman, 2007, Neurogenetics.

Reply to Inácio et al

J. Lupski, M. Khajavi, 2007, European Journal of Human Genetics.

Specificity of Tn5 insertions into a 36-bp DNA sequence repeated in tandem seven times.

J. Lupski, P. Gershon, G. Godson, 1984, Gene.

De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.

L. Shaffer, J. Lupski, W. Craigen, 1994, American journal of medical genetics.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, European Journal of Human Genetics.

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

J. Lupski, D. Horn, M. Spielmann, 2022, Genetics in Medicine.

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

J. Lupski, M. Rosenfeld, H. Omran, 2013, American journal of human genetics.

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy

A. Monaco, J. Lupski, C. Boerkoel, 2001, Neurogenetics.

Recessive Charcot‐Marie‐Tooth disease

J. Lupski, 2000, Annals of neurology.

Settling the myelin protein zero question in CMT1B

J. Lupski, B. Roa, L. E. Warner, 1995, Nature Genetics.

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

S M Leber, P. Stankiewicz, J. Lupski, 2001, American journal of human genetics.

Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.

J. Lupski, L. Potocki, J. K. Fraley, 2011, The Journal of pediatrics.

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

C. Shaw, J. Lupski, Yaping Yang, 2022, Genome Medicine.

The genomic basis of medicine

P. Stankiewicz, J. Lupski, 2020 .

A Human in Human Genetics

J. Lupski, 2019, Cell.

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.

C. Shaw, J. Lupski, W. Wiszniewski, 2007, American journal of human genetics.

Absence of PMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for charcot‐marie‐tooth disease type 1A

J. Lupski, B. Roa, L. E. Warner, 1996, Human mutation.

Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

R. W. Huff, J. Wiszniewska, E. Roeder, 2022, Journal of Medical Genetics.

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.

J. Lupski, G. Braunstein, F. Faucz, 2015, European journal of endocrinology.

Analysis of relationships among isolates of Citrobacter diversus by using DNA fingerprints generated by repetitive sequence-based primers in the polymerase chain reaction

J. Lupski, J. Versalovic, T. Koeuth, 1992, Journal of clinical microbiology.

Exploring the molecular basis of Bardet-Biedl syndrome.

J. Lupski, N. Katsanis, P. Beales, 2001, Human molecular genetics.

Biallelic mutations in IRF8 impair human NK cell maturation and function

Ivan K. Chinn, J. Lupski, R. Gibbs, 2017, The Journal of clinical investigation.

Biallelic mutations in IRF 8 impair human NK cell maturation and function

J. Lupski, R. Gibbs, M. Caligiuri, 2016 .

Identification of novel genes expressed during metanephric induction through single-cell library screening

J. Lupski, N. Katsanis, G. Karsenty, 2000 .

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Rosanna Weksberg, Pawel Stankiewicz, Hiroshi Takashima, 2002, Nature Genetics.

Cardiovascular findings in duplication 17p11.2 syndrome

J. Lupski, W. Gu, P. Liu, 2011, Genetics in Medicine.

Expression patterns of cytochrome P4501B1 (Cyp1b1) in FVB/N mouse eyes.

J. Lupski, B. Bejjani, L. Reneker, 2002, Experimental eye research.

Syndrome Patients

J. Lupski, A. Baldini, F. Greenberg, 2007 .

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

J. Lupski, R. Gibbs, S. Jhangiani, 2022, American journal of human genetics.

Phenotype expansion and development in Kosaki overgrowth syndrome

J. Lupski, D. Muzny, S. Jhangiani, 2018, Clinical genetics.

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing

Justyna A. Karolak, P. Stankiewicz, J. Lupski, 2016, European Journal of Human Genetics.

Triallelic inheritance: a bridge between Mendelian and multifactorial traits

J. Lupski, R. Lewis, N. Katsanis, 2004, Annals of medicine.

Genomic rearrangements and sporadic disease

J. Lupski, James R Lupski, 2007, Nature Genetics.

Smith-Magenis Syndrome Deletion, Reciprocal Duplication dup(17)(p11.2p11.2), and Other Proximal 17p Rearrangements

P. Stankiewicz, J. Lupski, W. Bi, 2006 .

Allan Award Introduction: Arthur L. Beaudet.

J. Lupski, 2008, American journal of human genetics.

2007 ASHG AWARDS AND ADDRESSES Allan Award Introduction: Arthur L. Beaudet

J. Lupski, 2008 .

Introduction of Arthur L. Beaudet, Harland Sanders Award Recipient

J. Lupski, 2002, Genetics in Medicine.

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

J. Lupski, S. Ellard, C. Stratakis, 2016, Acta neuropathologica communications.

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

J. Lupski, S. Ellard, C. Stratakis, 2016, Acta Neuropathologica Communications.

Localization of a Plasmodium surface antigen epitope by Tn5 mutagenesis mapping of a recombinant cDNA clone.

J. Lupski, G. Godson, L. S. Ozaki, 1983, Science.

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

J. Lupski, M. Woods, N. Katsanis, 2001, American journal of human genetics.

Molecular mechanisms for CMT1A duplication and HNPP deletion.

J. Lupski, C. Boerkoel, L. Reiter, 1999, Annals of the New York Academy of Sciences.

Charcot–Marie–Tooth Disease and Associated Peripheral Neuropathies

J. Lupski, Ken Inoue, 2006 .

Trisomy 17p10‐p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications

P. Stankiewicz, J. Lupski, R. Lewis, 2005, American journal of medical genetics. Part A.

Trisomy 17 p 10p 12 Due to Mosaic Supernumerary Marker Chromosome : Delineation of Molecular Breakpoints and Clinical Phenotype , and Comparison to Other Proximal 17 p Segmental Duplications

P. Stankiewicz, J. Lupski, R. Lewis, 2005 .

A girl with duplication 17p10‐p12 associated with a dicentric chromosome

P. Stankiewicz, J. Lupski, J. Christodoulou, 2004, American journal of medical genetics. Part A.

Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.

E. M. DeGennaro, J. Lupski, K. Im, 2022, Developmental cell.

Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies

J. Lupski, K. Szigeti, G. M. Saifi, 2003, Journal of Investigative Medicine.

Periaxin mutations cause a broad spectrum of demyelinating neuropathies

J. Lupski, P. Brophy, C. Boerkoel, 2002, Annals of neurology.

A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).

J. Lupski, T. Friedman, S. Camper, 1999, Genomics.

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

J. Rosenfeld, J. Lupski, R. Gibbs, 2022, American journal of human genetics.

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Robert W. Taylor, J. Lupski, S. Ellard, 2020, American journal of human genetics.

A temperature-dependent pBR322 copy number mutant resulting from a Tn5 position effect.

J. Lupski, S. Projan, G. Godson, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies

J. Lupski, K. Szigeti, G. M. Saifi, 2003, Journal of Investigative Medicine.

Abnormal circadian rhythm of melatonin in Smith–Magenis syndrome patients with RAI1 point mutations

J. Lupski, R. Reiter, Philip M Boone, 2011, American journal of medical genetics. Part A.

Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome

J. Lupski, P. Liu, L. Potocki, 2014, American journal of medical genetics. Part A.

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

L. Shaffer, Z. Ou, P. Stankiewicz, 2006, Human Genetics.

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

P. Stankiewicz, J. Lupski, L. Potocki, 2003, Genetics in Medicine.

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

L. Vissers, R. Pfundt, P. Stankiewicz, 2014, American journal of human genetics.

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

Ivan K. Chinn, J. Lupski, U. Pannicke, 2019, The Journal of allergy and clinical immunology.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

A. Pagnamenta, J. Lupski, D. Misceo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical genetics.

Psychiatric genetics: methods and reviews

J. Lupski, K. Szigeti, K. Eldin, 2004, Journal of Medical Genetics.

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.

P. Stankiewicz, J. Lupski, E. Obersztyn, 2005, Human genetics.

DNA fingerprinting of Neisseria strains by rep-PCR

J. Lupski, J. Versalovic, 1994 .

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

J. Lupski, M. Leppert, B. Bejjani, 1998, American journal of human genetics.

A Gene for Primary Congenital Glaucoma Is Not Linked to the Locus on Chromosome lq for Autosomal Dominant Juvenile‐Onset Open Angle Glaucoma

J. Lupski, M. Leppert, R. Lewis, 1996, Journal of glaucoma.

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

J. Lupski, R. Gibbs, D. Muzny, 2022, Genome Medicine.

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome

E. Zackai, J. Lupski, S. Jhangiani, 2020, American journal of medical genetics. Part A.

In vitro and in vivo manipulations of bacteriophage Mu DNA: cloning of Mu ends and construction of mini-Mu's carrying selectable markers.

J. Lupski, M. Dubow, F. D. de Bruijn, 1981, Gene.

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

J. Lupski, Tadahiro Mitani, D. Calame, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome.

L. Shaffer, J. Lupski, D. Stockton, 2001, Archives of neurology.

Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies.

L. Shaffer, J. Lupski, M. Gresik, 1994, American journal of medical genetics.

Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT

J. Lupski, P. Callaerts, V. Timmerman, 2012, Amino Acids.

Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia

Ivan K. Chinn, J. Lupski, J. Orange, 2022, JCI insight.

Clinical genomics: from a truly personal genome viewpoint

J. Lupski, 2016, Human Genetics.

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization

Ankita Patel, J. Lupski, S. Cheung, 2012, Human Genetics.

An ELF4 hypomorphic variant results in NK cell deficiency

Ivan K. Chinn, J. Lupski, R. Gibbs, 2022, JCI insight.

Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism

David R. Murdock, Michael M. Khayat, J. Lupski, 2022, Human mutation.

Genome structural variation and sporadic disease traits

J. Lupski, 2006, Nature Genetics.

POGZ truncating alleles cause syndromic intellectual disability

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

J. Lupski, D. Muzny, S. Jhangiani, 2015, American journal of human genetics.

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

J. Lupski, T. Wensel, R. Lewis, 2001, Human molecular genetics.

Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.

J. Lupski, R. Lewis, N. Shroyer, 2000 .

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder

J. Lupski, W. Dobyns, D. Curiel, 2022, American journal of human genetics.

Novel genetic causes for cerebral visual impairment

R. Pfundt, N. de Leeuw, B. D. de Vries, 2015, European Journal of Human Genetics.

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy

J. Lupski, P. Liu, T. Harel, 2016, Human Genetics.

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

J. Lupski, B. Menten, P. Lapunzina, 2013, PLoS genetics.

Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes.

J. Lupski, J. Versalovic, T. Koeuth, 1991, Nucleic acids research.

Short, interspersed repetitive DNA sequences in prokaryotic genomes

J. Lupski, G. Weinstock, G M Weinstock, 1992, Journal of bacteriology.

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome

J. Lupski, R. Gibbs, D. Muzny, 2015, American journal of medical genetics. Part A.

Phenotypic Expansion Illuminates Multilocus Pathogenic Variation

J. Lupski, R. Gibbs, D. Muzny, 2018, Genetics in Medicine.

Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

J. Lupski, S. Cheung, F. Scaglia, 2010, Genetics in Medicine.

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

J. Lupski, P. Gouras, P. Sieving, 2005, Human molecular genetics.

Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.

J. Lupski, M. Wegner, Y. Goto, 2007, Human molecular genetics.

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation

J. Lupski, Ken Inoue, Y. Tanabe, 1999, Annals of neurology.

Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature

J. Lupski, K. Nagai, Y. Tsuchida, 2003, Pediatric Surgery International.

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg–Hirschsprung disease: Phenotypes linked by SOX10 mutation

J. Lupski, K. Shilo, C. Boerkoel, 2002, Annals of neurology.

A Recurrent Loss‐of‐Function Alanyl‐tRNA Synthetase (AARS) Mutation in Patients with Charcot‐Marie‐Tooth Disease Type 2N (CMT2N)

J. Lupski, Yi-Chung Lee, S. Züchner, 2014 .

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2020, HGG advances.

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

J. Lupski, S. Jhangiani, J. Orange, 2017, Front. Pediatr..

Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of laboratory and genetic testing (an evidence-based review)

J. Lupski, K. Szigeti, Robert G. Miller, 2009, Neurology.

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

J. Lupski, B. Bejjani, D. Stockton, 2000, Human molecular genetics.

Whole‐exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis

J. Lupski, R. Gibbs, G. Mardon, 2011, Human mutation.

Repetitive Sequence-based PCR (rep-PCR) DNA Fingerprinting of Bacterial Genomes

J. Lupski, J. Versalovic, F. J. Bruijn, 1998 .

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Lorraine Potocki, Lisa G Shaffer, L. Shaffer, 2000, Journal of medical genetics.

Molecular detection and genotyping of pathogens: more accurate and rapid answers.

J. Lupski, J. Versalovic, 2002, Trends in microbiology.

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.

Ivan K. Chinn, C. Shaw, J. Lupski, 2018, American journal of human genetics.

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet–Biedl syndrome

J. Lupski, M. Justice, R. Hennekam, 2008, Proceedings of the National Academy of Sciences.

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

J. Lupski, M. Simpson, M. Patton, 2017, Brain : a journal of neurology.

Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency

J. Lupski, S. Jhangiani, C. Hodges, 2018, Human molecular genetics.

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.

J. Lupski, R. Gibbs, D. Muzny, 2015, The Journal of clinical endocrinology and metabolism.

Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

P. Stankiewicz, J. Lupski, M. Withers, 2005 .

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.

P. Stankiewicz, J. Lupski, M. Withers, 2005, American journal of human genetics.

Genetic errors of immunity distinguish pediatric non-malignant lymphoproliferative disorders.

Ivan K. Chinn, J. Lupski, R. Gibbs, 2021, The Journal of allergy and clinical immunology.

Possible new genes as revealed by molecular analysis of a 5-kb Escherichia coli chromosomal region 5' to the rpsU-dnaG-rpoD macromolecular-synthesis operon.

J. Lupski, G. Godson, M. Nesin, 1987, Gene.

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm

C. Shaw, J. Lupski, D. Muzny, 2018, Journal of Pediatric Genetics.

Molecular mechanisms for constitutional chromosomal rearrangements in humans.

L. Shaffer, J. Lupski, 2000, Annual review of genetics.

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Michael F. Wangler, J. Lupski, R. Gibbs, 2014, PLoS genetics.

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

T. Walsh, M. King, J. Lupski, 2015, The Journal of clinical endocrinology and metabolism.

Structural variation of the human genome: mechanisms, assays, and role in male infertility

J. Lupski, C. Carvalho, Feng Zhang, 2011, Systems biology in reproductive medicine.

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Ivan K. Chinn, J. Lupski, R. Gibbs, 2019, The Journal of experimental medicine.

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Andrew J. Oler, Ivan K. Chinn, J. Lupski, 2020, Science.

Phenotypic Expansion Illuminates Multilocus Pathogenic Variation

J. Lupski, R. Gibbs, D. Muzny, 2018, Genetics in Medicine.

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Michael F. Wangler, J. Lupski, A. Beaudet, 2017, American journal of human genetics.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

J. Rosenfeld, J. Lupski, R. Gibbs, 2017, Nature Genetics.

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Donna M. Muzny, Yan Ding, Eric Boerwinkle, 2017, The New England journal of medicine.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, Cell reports.

Digenic inheritance and Mendelian disease

J. Lupski, James R Lupski, 2012, Nature Genetics.

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

J. Lupski, M. Khajavi, Ken Inoue, 2006, European Journal of Human Genetics.

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Bethan E. Hoskins, J. Lupski, P. Scambler, 2001, Science.

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome

David R. Murdock, J. Lupski, R. Gibbs, 2014, BMC Medical Genetics.

Chapter 70 – Hereditary Motor and Sensory Neuropathies Involving Altered Dosage or Mutation of PMP22: The CMT1A Duplication and HNPP Deletion

J. Lupski, P. Chance, 2005 .

Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters.

J. Lupski, E. Shooter, P. Patel, 1994, The Journal of biological chemistry.

The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

B. Trask, J. Lupski, E. Shooter, 1992, Nature Genetics.

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

Aravinda Chakravarti, Barbara J. Trask, James M. Killian, 1991, Cell.

Somatic mosaicism: implications for disease and transmission genetics.

Chad A Shaw, Pawel Stankiewicz, P. Stankiewicz, 2015, Trends in genetics : TIG.

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

J. Lupski, R. Gibbs, E. Boerwinkle, 2016, The Journal of clinical investigation.

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

J. Lupski, R. Gibbs, E. Boerwinkle, 2016, Pediatric neurology.

SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway.

P. Stankiewicz, J. Lupski, G. Bien-Willner, 2007, Human molecular genetics.

CRISPR/Cas9-induced gene conversion between ATAD3 paralogs

J. Lupski, T. Harel, A. Frumkin, 2022, HGG advances.

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

R. Pfundt, B. D. de Vries, P. Stankiewicz, 2007, Human Genetics.

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

David C. Schwartz, Jane Loveland, Eric S. Lander, 2006, Nature.

Serial segmental duplications during primate evolution result in complex human genome architecture.

P. Stankiewicz, J. Lupski, M. Withers, 2004, Genome research.

Molecular-evolutionary mechanisms for genomic disorders.

P. Stankiewicz, J. Lupski, 2002, Current opinion in genetics & development.

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

B. Birren, P. Stankiewicz, J. Lupski, 2002, Genome research.

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.

B. Birren, E. Lander, J. Lupski, 2001, Genome research.

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.

J. Lupski, C. Broeckhoven, C. van Broeckhoven, 1998, American journal of human genetics.

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

A. C. Chinault, J. Lupski, A. Chinault, 1997, Nature Genetics.

Bainbridge Whole-Genome Sequencing for Optimized Patient Management

J. Lupski, R. Gibbs, D. Muzny, 2011 .

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

P. Stankiewicz, L. Shao, Ankita Patel, 2008, American journal of medical genetics. Part A.

Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders

J. Lupski, Jennifer A. Lee, James R. Lupski, 2006, Neuron.

Genome Mosaicism—One Human, Multiple Genomes

J. Lupski, 2013, Science.

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

J. Lupski, Meredith Wilson, W. Bi, 2004, Human Genetics.

Insights into genetics, human biology and disease gleaned from family based genomic studies

M. Gerstein, D. MacArthur, J. Rosenfeld, 2019, Genetics in Medicine.

Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases

Z. Ou, P. Stankiewicz, M. L. Cooper, 2007, PloS one.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Kristin M. Scheible, U. Surti, P. Stankiewicz, 2016, Human Genetics.

Animal models for human contiguous gene syndromes and other genomic disorders

J. Lupski, K. Walz, P. Fonseca, 2004 .

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.

L. Shaffer, P. Stankiewicz, J. Lupski, 2002, Genome research.

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.

P. Stankiewicz, J. Lupski, B. Morrow, 2007, Genome research.

Conservation and evolution of the rpsU‐dnaG‐rpoD macromolecular synthesis operon in bacteria

J. Lupski, J. Versalovic, K. Geszvain, 1993, Molecular microbiology.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Ellen F. Macnamara, J. Lupski, E. Puffenberger, 2018, American journal of human genetics.

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14

J. Lupski, R. Lewis, W. Wiszniewski, 2007, Human Genetics.

Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome)

J. Rosenfeld, J. Lupski, R. Scott, 2019, American journal of medical genetics. Part A.

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

N. Guex, A. Reymond, C. Shaw, 2016, Genome Medicine.

POGZ truncating alleles cause syndromic intellectual disability

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Michael F. Wangler, E. Zackai, J. Lupski, 2014, American journal of human genetics.

Advances in Autism Research – The Genomic Basis of ASD

J. Lupski, Melanie Lacaria, 2013 .

The genomic basis of disease, mechanisms and assays for genomic disorders.

P. Stankiewicz, J. Lupski, 2006, Genome dynamics.

Genome architecture catalyzes nonrecurrent chromosomal rearrangements.

L. Shaffer, P. Stankiewicz, J. Lupski, 2003, American journal of human genetics.

Genomic disorders: A window into human gene and genome evolution

J. Lupski, C. Carvalho, Feng Zhang, 2010, Proceedings of the National Academy of Sciences.

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.

P. Stankiewicz, C. Shaw, J. Lupski, 2006, Human molecular genetics.

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

J. Lupski, R. Gibbs, D. Muzny, 2014, European Journal of Human Genetics.

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

K. Gunderson, Ankita Patel, J. Lupski, 2007, Genetics in Medicine.

A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men

J. Lupski, S. Girirajan, P. Saha, 2012, PLoS genetics.

Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.

J. Lupski, P. Liu, P. Hastings, 2011, American journal of human genetics.

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Jonathan Berg, Ankita Patel, Z. Ou, 2008, American journal of human genetics.

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

D. MacArthur, W. Chung, J. Lupski, 2021, Genetics in Medicine.

Cognitive phenotypes and genomic copy number variations.

J. Lupski, 2015, JAMA.

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, The Journal of clinical investigation.

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

J. Lupski, R. Gibbs, E. Boerwinkle, 2014, Cell.

RAI1 point mutations, CAG repeat variation, and SNP analysis in non‐deletion Smith–Magenis syndrome

J. Lupski, H. Firth, S. Girirajan, 2006, American journal of medical genetics. Part A.

Genomic medicine and neurological disease

J. Lupski, W. Wiszniewski, Philip M Boone, 2011, Human Genetics.

Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation

J. Lupski, C. Boerkoel, M. Scavina, 2002, Annals of neurology.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

Clan genomics: From OMIM phenotypic traits to genes and biology

J. Lupski, 2021, American journal of medical genetics. Part A.

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Klaudia Walter, M. Hurles, P. Stankiewicz, 2017, Cell.

Approaches for identifying germ cell mutagens: Report of the 2013 IWGT workshop on germ cell assays(☆).

Michael D Waters, Masamitsu Honma, Carole L Yauk, 2015, Mutation research. Genetic toxicology and environmental mutagenesis.

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.

Regis A. James, P. Stankiewicz, C. Shaw, 2014, American journal of human genetics.

Replicative mechanisms for CNV formation are error prone

J. Lupski, J. Belmont, D. Pehlivan, 2013, Nature Genetics.

2012 highlights in translational 'omics

J. Lupski, C. Auffray, M. Khoury, 2013, Genome Medicine.

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

P. Stankiewicz, J. Wiszniewska, Ankita Patel, 2013, European Journal of Human Genetics.

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

Juan I. Young, J. Chrast, A. Reymond, 2010, PLoS biology.

Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates.

J. Lupski, M. Withers, Christine J. Shaw, 2004, American journal of human genetics.

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

J. Lupski, P. Patel, W. Dobyns, 1991, American journal of human genetics.

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Ankita Patel, J. Lupski, S. Cheung, 2006, Genetics in Medicine.

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

J. Lupski, C. Walsh, S. Jhangiani, 2019, American journal of human genetics.

Enrichment of mutations in chromatin regulators in people with Rett Syndrome lacking mutations in MECP2

J. Lupski, R. Gibbs, D. Muzny, 2016, Genetics in Medicine.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

W. Chung, J. Lupski, R. Gibbs, 2015, Neuron.

Genomic Disorders: Recombination-Based Disease Resulting from Genome Architecture * * Previously pre

J. Lupski, 2003 .

2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.

J. Lupski, 2003, American journal of human genetics.

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

J. Lupski, S. Riazuddin, Z. Ahmed, 2001, Human Genetics.

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.

L. Shaffer, J. Lupski, T. Bird, 2002, American journal of human genetics.

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

A. Breman, J. Lupski, Zhihong Wu, 2020, Kidney international.

20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

Z. Ou, P. Stankiewicz, A. C. Chinault, 2008, Journal of Medical Genetics.

Assessing structural variation in a personal genome—towards a human reference diploid genome

Caleb F. Davis, P. Stankiewicz, J. Lupski, 2015, BMC Genomics.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

J. Rosenfeld, J. Lupski, R. Gibbs, 2021, HGG advances.

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of medical genetics. Part A.

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

J. Lupski, R. Gibbs, D. Muzny, 2021, American journal of human genetics.

Short stature and combined immunodeficiency associated with mutations in RGS10

Ivan K. Chinn, J. Lupski, J. Orange, 2021, Science Signaling.

IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

J. Lupski, S. Jhangiani, D. Valle, 2021, Human Genetics.

Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe.

Justyna A. Karolak, P. Stankiewicz, J. Lupski, 2021, Advances in medical sciences.

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Justyna A. Karolak, P. Stankiewicz, J. Lupski, 2020, Genetics in Medicine.

Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2020, American journal of medical genetics. Part A.

Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)

J. Lupski, R. Gibbs, E. Boerwinkle, 2020, JBMR plus.

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.

Priya S. Shah, Benjamin R. Arenkiel, J. Lupski, 2019, Developmental cell.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

J. Lupski, R. Gibbs, E. Boerwinkle, 2019, American journal of human genetics.

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

P. Stankiewicz, C. Shaw, J. Lupski, 2019, Genome Medicine.

Ankle2, A Target of Zika Virus, Controls Asymmetric Cell Division of Neuroblasts and Uncovers a Novel Microcephaly Pathway

Benjamin R. Arenkiel, J. Lupski, N. Krogan, 2019, bioRxiv.

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2

C. Shaw, J. Lupski, R. Gibbs, 2019, Cell.

Genetic architecture of laterality defects revealed by whole exome sequencing

Alexander Hanbo Li, Mahshid S. Azamian, J. Lupski, 2019, European Journal of Human Genetics.

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, Human Genetics.

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

J. Lupski, S. Jhangiani, J. Belmont, 2018, European Journal of Human Genetics.

A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, American journal of medical genetics. Part A.

Global transcriptional disturbances underlie

Khalid Al Rubeaan, J. Lupski, R. Gibbs, 2018 .

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, Journal of dental research.

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Kiely N. James, J. Lupski, S. Jhangiani, 2018, European Journal of Human Genetics.

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Alexander Hanbo Li, Mahshid S. Azamian, J. Rosenfeld, 2017, Genome Medicine.

Novel Genetic Triggers and Genotype–Phenotype Correlations in Patients With Left Ventricular Noncompaction

J. Lupski, R. Gibbs, D. Muzny, 2017, Circulation. Cardiovascular genetics.

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

Richard A Gibbs, Ali Mentes, Donna M Muzny, 2017, American journal of human genetics.

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, PLoS genetics.

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

James T Lu, Richard A Gibbs, Philippe M Campeau, 2017, Cold Spring Harbor molecular case studies.

Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome

Eric Boerwinkle, Richard A. Gibbs, Sanjay Shete, 2016, Cold Spring Harbor molecular case studies.

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

Two male sibs with severe micrognathia and a missense variant in MED12.

J. Lupski, R. Gibbs, D. Muzny, 2016, European journal of medical genetics.

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

J. Rosenfeld, W. Chung, J. Lupski, 2016, American journal of human genetics.

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

J. Lupski, D. Muzny, S. Jhangiani, 2016, American journal of human genetics.

Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

J. Lupski, R. Gibbs, D. Muzny, 2015, Molecular genetics & genomic medicine.

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

B. V. van Bon, A. V. Vulto-van Silfhout, A. Hoischen, 2015, American journal of human genetics.

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.

J. Lupski, A. Goldman, R. Paylor, 2007, Human molecular genetics.

Evolution of ABCA4 Proteins in Vertebrates

J. Lupski, W. Wiszniewski, A. Yatsenko, 2004, Journal of Molecular Evolution.

Genomic disorders 20 years on—mechanisms for clinical manifestations

J. Lupski, T. Harel, Tamar Harel, 2018, Clinical genetics.

EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

J. Lupski, C. Boerkoel, C. Bacino, 2001, Neurogenetics.

A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination.

M. Hurles, J. Lupski, S. Lindsay, 2006, American journal of human genetics.

Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease

C. Shaw, J. Lupski, R. Doody, 2012, Translational Psychiatry.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Michael F. Wangler, J. Rosenfeld, D. Goldstein, 2017, American journal of human genetics.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

J. Lupski, S. Bale, S. Lalani, 2016, Human Genetics.

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

J. Lupski, M. Leppert, A. Hutchinson, 1999, American journal of human genetics.

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

Z. Ou, E. Roeder, V. Enciso, 2008, Genetics in Medicine.

DNA rearrangements affecting dosage sensitive genes

J. Lupski, L. Reiter, T. Murakami, 1996 .

Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

P. Stankiewicz, P. Stankiewicz, Ankita Patel, 2008, Pediatrics.

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

Ivan K. Chinn, J. Lupski, S. Grant, 2021, The Journal of experimental medicine.

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

J. Lupski, M. Greenberg, T. Langmann, 2017, Genetics in Medicine.

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) Contiguous Gene Syndromes by Chromosome Engineering in Mice: Phenotypic Consequences of Gene Dosage Imbalance

J. Lupski, A. Bradley, H. Vogel, 2003, Molecular and Cellular Biology.

COP9 Signalosome Subunit 3 Is Essential for Maintenance of Cell Proliferation in the Mouse Embryonic Epiblast

J. Lupski, M. Justice, A. Bradley, 2003, Molecular and Cellular Biology.

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

P. Stankiewicz, J. Lupski, J. Scull, 2014, American journal of human genetics.

Deficiency in 3′-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1)

J. Lupski, K. Valerie, L. Povirk, 2005, Nucleic acids research.

Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL.

J. Lupski, C. Claudianos, H. Campbell, 1997, Genomics.

Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture

Adrian Gherman, Tanya M. Teslovich, Aravinda Chakravarti, 2007, PLoS genetics.

The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP.

P. Stankiewicz, J. Lupski, K. Inoue, 2001, Genome research.

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.

P. Stankiewicz, J. Lupski, J. Sikela, 2007, Human molecular genetics.

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

J. Lupski, W. Bi, Christine J. Shaw, 2002, American journal of human genetics.

Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion

L. Shaffer, J. Lupski, W. Meschino, 2000, Nature Genetics.

Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

A. C. Chinault, J. Lupski, P. Patel, 1992, Nature Genetics.

A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction

J. Lupski, R. Gibbs, D. Muzny, 2016, Molecular genetics & genomic medicine.

Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients

J. Lupski, S. Tsang, L. Yannuzzi, 2014, Human mutation.

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of human genetics.

Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms

J. Lupski, Christine J. Shaw, 2004, Human Genetics.

ReviewGenomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders

J. Lupski, Jennifer A. Lee, 2006 .

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

Ivan K. Chinn, J. Lupski, R. Gibbs, 2021, Frontiers in Pediatrics.

Genomic and clinical characteristics of microduplications in chromosome 17

J. Lupski, S. Cheung, O. Shchelochkov, 2010, American journal of medical genetics. Part A.

CNV and nervous system diseases – what’s new?

J. Lupski, W. Gu, 2009, Cytogenetic and Genome Research.

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

J. Lupski, R. Paylor, W. Bi, 2006, The Journal of clinical investigation.

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.

J. Lupski, Christine J. Shaw, 2004, Human molecular genetics.

Genetics and genomics of behavioral and psychiatric disorders.

J. Lupski, Ken Inoue, 2003, Current opinion in genetics & development.

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p

X. Estivill, P. Stankiewicz, J. Lupski, 2004, Human Genetics.

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

Mahshid S. Azamian, J. Lupski, S. Leal, 2016, Human molecular genetics.

Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation

P. Stankiewicz, J. Lupski, T. Liehr, 2006, American journal of medical genetics. Part A.

Duplication of Xq26.2–q27.1, including SOX3, in a mother and daughter with short stature and dyslalia

P. Stankiewicz, J. Lupski, S. Bartel-Friedrich, 2005, American journal of medical genetics. Part A.

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events

P. Stankiewicz, J. Wiszniewska, Ankita Patel, 2012, Journal of Medical Genetics.

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

J. Lupski, P. Patel, W. Bi, 2003, American journal of human genetics.

Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.

L. Shaffer, P. Stankiewicz, J. Lupski, 2001, Genome research.

Two Functional Copies of the DGCR6 Gene Are Present on Human Chromosome 22q11 Due to a Duplication of an Ancestral Locus

L. Shaffer, J. Lupski, B. Morrow, 2001, Genome Research.

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.

J. Lupski, P. Patel, M. Lensch, 1994, Human molecular genetics.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Michael F. Wangler, J. Lupski, D. Krainc, 2021, Annals of neurology.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Mahshid S. Azamian, Magalie S Leduc, J. Rosenfeld, 2015, American journal of human genetics.

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, JAMA ophthalmology.

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

J. Lupski, R. Gibbs, E. Boerwinkle, 2014, American journal of medical genetics. Part A.

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

J. Lupski, Zhihong Wu, Yiping Shen, 2019, Genetics in Medicine.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

J. Rosenfeld, J. Lupski, R. Gibbs, 2017, Nature Genetics.

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

J. Lupski, T. Helleday, M. Weinfeld, 2005, Nature.

The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats.

Christina A. Cuomo, C. Nusbaum, P. Stankiewicz, 2004, American journal of human genetics.

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

A. C. Chinault, Ankita Patel, J. Lupski, 2008, Journal of Medical Genetics.

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

L. Shaffer, J. Lupski, J. Korenberg, 1998, American journal of medical genetics.

Clinical genomics and contextualizing genome variation in the diagnostic laboratory

P. Stankiewicz, J. Lupski, J. Posey, 2020, Expert review of molecular diagnostics.

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

C. Shaw, J. Lupski, J. Jankovic, 2020, Neurology: Genetics.

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.

Justyna A. Karolak, J. Rosenfeld, P. Stankiewicz, 2020, Genomics.

Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

J. Lupski, J. Eisfeldt, A. Lindstrand, 2020, American journal of medical genetics. Part A.

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

J. Lupski, K. Woodward, Vahid Bahrambeigi, 2019, Genome Medicine.

Integrated Sequencing & Array Comparative Genomic Hybridization in Familial Parkinson’s Disease

C. Shaw, J. Lupski, J. Jankovic, 2019 .

Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene

J. Sebat, D. Malhotra, D. Rujescu, 2019, Biological Psychiatry.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, A. Breman, Ankita Patel, 2019, Genome Medicine.

2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.

J. Lupski, 2019, American journal of human genetics.

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

J. Lupski, You-Qiang Song, Zhihong Wu, 2018, Human Genetics.

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes

J. Sebat, D. Malhotra, S. McCarthy, 2018, Human mutation.

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

P. Stankiewicz, A. Breman, C. Shaw, 2018, Genome research.

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage‐sensitive genes with clinical severity in genomic disorders

J. Lupski, C. Carvalho, Hongyan Wang, 2017, Human molecular genetics.

Whole‐Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

Daniel Nilsson, Anna Lindstrand, Francesco Vezzi, 2017, Human mutation.

Mechanisms for Complex Chromosomal Insertions

P. Stankiewicz, A. Breman, P. Szafranski, 2016, PLoS genetics.

Mus81 and converging forks limit the mutagenicity of replication fork breakage

C. Shaw, J. Lupski, I. Campbell, 2015, Science.

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

P. Stankiewicz, Ankita Patel, C. Shaw, 2015, Human molecular genetics.

Absence of heterozygosity due to template switching during replicative rearrangements.

M. Hurles, R. Pfundt, P. Stankiewicz, 2015, American journal of human genetics.

CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.

J. Lupski, Weichen Zhou, L. Jin, 2015, Human molecular genetics.

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

Suzanne M. McCahan, J. Lupski, C. Carvalho, 2015, PLoS genetics.

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.

J. Lupski, V. Drory, J. Higgins, 2014, American journal of human genetics.

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

J. Rosenfeld, P. Stankiewicz, A. Breman, 2013, Genome research.

Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.

J. Lupski, P. Liu, L. Jin, 2013, Human molecular genetics.

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

J. Lupski, C. Carvalho, Philip M Boone, 2011, Genetics in Medicine.

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

P. Stankiewicz, J. Wiszniewska, M. L. Cooper, 2011, Human molecular genetics.

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

J. Lupski, F. Baas, P. Liu, 2010, American journal of human genetics.

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

J. Lupski, P. Liu, L. Potocki, 2010, American journal of human genetics.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

P. Stankiewicz, Ankita Patel, C. Shaw, 2009, Human molecular genetics.

Increased LIS1 expression affects human and mouse brain development

K. Gunderson, J. Lupski, S. Cheung, 2009, Nature Genetics.

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

Lorraine Potocki, Pawel Stankiewicz, Weimin Bi, 2007, American journal of human genetics.

Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

P. Stankiewicz, J. Lupski, N. Niikawa, 2005, Human molecular genetics.

Localization of mariner DNA transposons in the human genome by PRINS.

J. Lupski, T. Liehr, B. Rautenstrauss, 1999, Genome research.

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

Chad A Shaw, Ankita Patel, Z. Ou, 2005, Genetics in Medicine.

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

J. Lupski, R. Gibbs, T. Wienker, 2013, Genome Medicine.

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

A. Breman, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Identification of novel candidate disease genes from de novo exonic copy number variants

Lisa T. Emrick, J. Rosenfeld, P. Stankiewicz, 2017, Genome Medicine.

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era?

P. Stankiewicz, Ankita Patel, C. Shaw, 2012, Genetics in Medicine.

Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

P. Stankiewicz, Ankita Patel, C. Shaw, 2007, American journal of medical genetics. Part A.

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

J. Lupski, J. Eisfeldt, A. Lindstrand, 2021, Frontiers in Genetics.

Response to Biesecker et al.

C. Bult, J. Lupski, R. Gibbs, 2021, American journal of human genetics.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

AHDC1 missense mutations in Xia-Gibbs syndrome

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2021, HGG advances.

Exome variant discrepancies due to reference genome differences.

Michael M. Khayat, J. Lupski, R. Gibbs, 2021, American journal of human genetics.

Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits

Nurit Assia Batzir, C. Shaw, J. Lupski, 2021, medRxiv.

Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases

Michael M. Khayat, J. Rosenfeld, J. Lupski, 2020, Human mutation.

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

J. Rosenfeld, J. Lupski, R. Gibbs, 2019, American journal of human genetics.

Ten years of Genome Medicine

J. Lupski, C. Auffray, M. Khoury, 2019, Genome Medicine.

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

J. Lupski, Zhihong Wu, Yiping Shen, 2019, Genetics in Medicine.

TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice

J. Lupski, Zhihong Wu, Shuyang Zhang, 2018, Human molecular genetics.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

J. Rosenfeld, A. Breman, C. Shaw, 2018, Genetics in Medicine.

The phenotypic spectrum of Xia‐Gibbs syndrome

David R. Murdock, Michael M. Khayat, Michael F. Wangler, 2018, American journal of medical genetics. Part A.

Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins

J. Lupski, R. Gibbs, S. Jhangiani, 2017, American journal of medical genetics. Part A.

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

Michael F. Wangler, Nele A. Haelterman, S. Nelson, 2017, Neuron.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

Bradley P. Coe, Mahshid S. Azamian, Lisa T. Emrick, 2016, American journal of human genetics.

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Gunnar Houge, Stefan Johansson, Martin S. Taylor, 2014, American journal of human genetics.

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

L. Shaffer, J. Lupski, C. Kashork, 1999, American journal of human genetics.

Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome

David R. Murdock, Michael M. Khayat, Michael F. Wangler, 2021, Human mutation.

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization

Ankita Patel, J. Lupski, S. Cheung, 2012, Human Genetics.

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

P. Stankiewicz, J. Lupski, S. Cheung, 2010, European Journal of Human Genetics.

Hereditary Motor and Sensory Neuropathies: An Overview of Clinical, Genetic, Electrophysiologic, and Pathologic Features

J. Lupski, P. Dyck, C. Klein, 2005 .

Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.

J. Lupski, T. Barber, T. Friedman, 1998, American journal of human genetics.

Chimeric transcripts resulting from complex duplications in chromosome Xq28

J. Lupski, C. Carvalho, Benjamin Alleva, 2015, Human Genetics.

Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.

Yiping Shen, Li Jin, Weichen Zhou, 2013, Human molecular genetics.

Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome

J. Lupski, C. Carvalho, R. Hundley, 2013, Journal of autism and developmental disorders.

The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism

J. Lupski, Z. Warren, C. Carvalho, 2013, Autism research : official journal of the International Society for Autism Research.

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

J. Lupski, S. Cheung, C. Schaaf, 2012, BMC Medical Genetics.

Looking back at genomic medicine in 2011

J. Lupski, C. Auffray, M. Khoury, 2012, Genome Medicine.

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

J. Lupski, H. Zoghbi, C. Schaaf, 2009, Annals of neurology.

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.

A. C. Chinault, J. Lupski, S. Cheung, 2009, Human molecular genetics.

What have studies of genomic disorders taught us about our genome?

J. Lupski, C. Carvalho, A. D. Simmons, 2012, Methods in molecular biology.

Mechanisms for the Generation of Two Quadruplications Associated with Split‐Hand Malformation

J. Lupski, C. Pickering, J. Posey, 2016, Human mutation.

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer

J. Lupski, J. Gómez-Skarmeta, J. Royo, 2012, Journal of Medical Genetics.

Hereditary Motor and Sensory Neuropathies

J. Lupski, K. Szigeti, W. Wiszniewski, 2013 .

Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy.

J. Lupski, H. Zoghbi, E. Hoffman, 1991, American journal of medical genetics.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

Copy number variation at the breakpoint region of isochromosome 17q.

J. Lupski, C. Carvalho, 2008, Genome research.

Copy number variation at the breakpoint region of isochromosome 17 q

J. Lupski, C. Carvalho, 2008 .

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

J. Lupski, R. Gibbs, L. Reiter, 1997, Human molecular genetics.

Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 (DAX1)

B. Fernandez, P. Stankiewicz, J. Lupski, 2007, Human Genetics.

Whole-Exome Sequencing in Familial Parkinson Disease.

J. Lupski, R. Gibbs, R. Myers, 2016, JAMA neurology.

Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment

Ankita Patel, J. Lupski, R. Gibbs, 2015 .

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.

J. Lupski, R. Gibbs, E. Boerwinkle, 2013, JAMA neurology.

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

P. Stankiewicz, C. Shaw, J. Lupski, 2019, Genome Medicine.

Prenatal diagnosis of a 9q34.3 microdeletion by array‐CGH in a fetus with an apparently balanced translocation

Ankita Patel, J. Lupski, S. Cheung, 2007, Prenatal diagnosis.

Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.

J. Lupski, N. Katsanis, S. Venable, 2000 .

Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome

P. Stankiewicz, J. Lupski, J. Limon, 2006, American journal of medical genetics. Part A.

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

P. Stankiewicz, Ankita Patel, J. Lupski, 2009, Journal of Medical Genetics.

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.

L. Shaffer, J. Lupski, D. Stockton, 1997, American journal of medical genetics.

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

D. Ledbetter, J. Lupski, P. Patel, 1992, American journal of human genetics.

A novel locus for Leber congenital amaurosis on chromosome 14q24

J. Lupski, R. Lewis, D. Stockton, 1998, Human Genetics.

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

J. Lupski, R. Gibbs, E. Boerwinkle, 2016, Nature Communications.

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

L. D. White, Ankita Patel, C. Shaw, 2009, Prenatal diagnosis.

Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA.

Z. Ou, A. C. Chinault, Ankita Patel, 2009, The Journal of molecular diagnostics : JMD.

Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

J. Lupski, C. Wijmenga, S. Kulkarni, 2007 .

A clinical and molecular study of mosaicism for trisomy 17

L. Shaffer, J. Lupski, F. Greenberg, 2004, Human Genetics.

Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes.

J. Lupski, S. Schuffenhauer, M. Ferguson-Smith, 2001, American journal of medical genetics.

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases

P. Stankiewicz, Ankita Patel, C. Shaw, 2014, European Journal of Human Genetics.

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.

J. Lupski, M. Leppert, N. Katsanis, 1999, American journal of human genetics.

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature

A. Breman, Ankita Patel, C. Shaw, 2012, Prenatal diagnosis.

Implementing genomic medicine in the clinic: the future is here

Dan M. Roden, Alan R. Shuldiner, Rex L. Chisholm, 2013, Genetics in Medicine.

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

Ivan K. Chinn, J. Lupski, R. Gibbs, 2018, Blood.

Ophthalmic manifestations of Smith-Magenis syndrome.

J. Lupski, R. Lewis, F. Greenberg, 1996, Ophthalmology.

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

C McCluggage, F Greenberg, J. Lupski, 1996, American journal of medical genetics.

Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.

B. Trask, G. van den Engh, J. Lupski, 1995, American journal of medical genetics.

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

J. Sebat, D. Malhotra, S. McCarthy, 2017, Stem cell reports.

Insertional translocation detected using FISH confirmation of array‐comparative genomic hybridization (aCGH) results

Z. Ou, P. Stankiewicz, M. L. Cooper, 2010, American journal of medical genetics. Part A.

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

D. Ledbetter, J. Lupski, P. Patel, 1992, Nature Genetics.

Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.

J. Lupski, B. Roa, C. Garcia, 1991, International journal of neurology.

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.

D. J. Driscoll, J. Lupski, P. Patel, 1993, American journal of medical genetics.

Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient.

L. Shaffer, J. Lupski, P. Patel, 1995, American journal of medical genetics.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

W. Chung, J. Lupski, R. Myers, 2017, American journal of human genetics.

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

J. Lupski, R. Gibbs, E. Boerwinkle, 2014, Human molecular genetics.

Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.

J. Lupski, P. Patel, J. Lupski, 1994, Trends in genetics : TIG.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

J. Lupski, R. Gibbs, D. Muzny, 2020, American journal of medical genetics. Part A.

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

Bethan E. Hoskins, Nicholas Katsanis, J. Lupski, 2004, Nature Genetics.

Immunity to malaria and naturally acquired antibodies to the circumsporozoite protein of Plasmodium falciparum.

J. Lupski, 1987, The New England journal of medicine.

Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Z. Ou, P. Stankiewicz, Ankita Patel, 2009, Journal of Medical Genetics.

Quantitative Assessment of Parental Somatic Mosaicism for Copy‐Number Variant (CNV) Deletions

P. Stankiewicz, J. Lupski, W. Bi, 2020, Current protocols in human genetics.

Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.

J. Lupski, F. Faucz, V. Bours, 2016, Endocrine-related cancer.

The phenotype of recurrent 10q22q23 deletions and duplications

R. Pfundt, P. Stankiewicz, Ankita Patel, 2011, European Journal of Human Genetics.

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Z. Ou, P. Stankiewicz, Ankita Patel, 2009, Human Genetics.

Chromosomal duplications in bacteria, fruit flies, and humans.

J. Lupski, G. Weinstock, J. Roth, 1996, American journal of human genetics.

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

P. Stankiewicz, J. Lupski, R. Gibbs, 2010, New England Journal of Medicine.

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

J. Lupski, S. Cheung, A. Munnich, 2015, American journal of human genetics.

Objective measures of sleep disturbances in children with Potocki–Lupski syndrome

J. Lupski, L. Potocki, D. Glaze, 2019, American journal of medical genetics. Part A.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.

J. Lupski, S. Cheung, N. Katsanis, 2014, American journal of human genetics.

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.

Alexandre Reymond, Katherina Walz, Paulina Carmona-Mora, 2008, Human molecular genetics.

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

J. Lupski, L. Vallée, J. Andrieux, 2008, American journal of medical genetics. Part A.

Topical Review: Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]

J. Lupski, A. Goldman, J. Noebels, 2006, Journal of child neurology.

Detection of tandem duplications and implications for linkage analysis.

J. Lupski, T. Matise, P. Patel, 1994, American journal of human genetics.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Fan Xia, Pengfei Liu, Xiaoyan Ge, 2017, JAMA pediatrics.

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

J. Lupski, A. Sabo, R. Lewis, 2016, American journal of human genetics.

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy

J. Lupski, R. Gibbs, D. Muzny, 2015, Genetics in Medicine.

Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes

J. Lupski, S. Tsang, Y. Xie, 2015, Human Genetics.

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.

J. Lupski, J. Wess, P. Chanson, 2014, The New England journal of medicine.

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Donna M. Muzny, Yuji Okamoto, Richard A. Gibbs, 2013, Genetics in Medicine.

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome

J. Lupski, A. Willis, Z. Niu, 2013, American journal of medical genetics. Part A.

Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

J. Lupski, E. Shooter, P. Patel, 1993, The New England journal of medicine.

Altered neuronal network and rescue in a human MECP2 duplication model

J. Lupski, A. Muotri, P. Vanderhaeghen, 2015, Molecular Psychiatry.

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

J. Lupski, R. Gibbs, D. Muzny, 2014, American journal of human genetics.

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation

I. Krantz, J. Lupski, D. Pehlivan, 2012, Genetics in Medicine.

Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays

P. Stankiewicz, A. Breman, C. Shaw, 2012, Prenatal diagnosis.

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

J. Lupski, T. Shiihara, Y. Makita, 2005, Genetics in Medicine.

Clinical variability in two pairs of identical twins with the Charcot‐Marie‐Tooth disease type 1A duplication

J. Lupski, J. England, C. Garcia, 1995, Neurology.

Charcot-Marie-Tooth disease and related hereditary polyneuropathies: Molecular diagnostics determine aspects of medical management

J. Lupski, K. Szigeti, Carlos A. Garcia, 2006, Genetics in Medicine.

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus–Merzbacher disease

L. Shaffer, J. Lupski, Y. Fukushima, 2001, Prenatal diagnosis.

Interphase FISH screening for the LCR‐mediated common rearrangement of isochromosome 17q in primary myelofibrosis

P. Stankiewicz, J. Lupski, J. Northup, 2005, American journal of hematology.

The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3

P. Stankiewicz, J. Lupski, S. Cheung, 2003, Cytogenetic and Genome Research.

An evaluation of the draft human genome sequence

J. Lupski, K. Worley, N. Katsanis, 2001, Nature Genetics.

Retrotransposition and Structural Variation in the Human Genome

J. Lupski, James R Lupski, 2010, Cell.

From genes to genomes in the clinic

Joris A. Veltman, J. Lupski, J. Veltman, 2015, Genome Medicine.

Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review)

J. Lupski, K. Szigeti, Robert G. Miller, 2009, Neurology.

Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy

Ankita Patel, Chad A. Shaw, Carlos A. Bacino, 2013, PLoS genetics.

alleles.two temperature-sensitive dnaG Escherichia coli essential GTPase era that Characterization of mutations affecting the

J. Lupski, R. Britton, B. Powell, 2012 .

Characterization of mutations affecting the Escherichia coli essential GTPase era that suppress two temperature-sensitive dnaG alleles

J. Lupski, D. Court, R. Britton, 1997, Journal of bacteriology.

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

C. Shaw, J. Lupski, R. Gibbs, 2016, Human mutation.

Recombination Hotspots in Nonallelic Homologous Recombination

M. Hurles, J. Lupski, 2006 .

Evaluation of distal symmetric polyneuropathy: The role of autonomic testing, nerve biopsy, and skin biopsy (an evidence‐based review)

J. Lupski, K. Szigeti, Robert G. Miller, 2009, Muscle & nerve.

CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents.

J. Lupski, C. Schaaf, Janson J. White, 2017, Journal of child and adolescent psychopharmacology.

Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells

J. Sebat, D. Malhotra, S. McCarthy, 2015, npj Schizophrenia.

Brain Copy Number Variants and Neuropsychiatric Traits

J. Lupski, 2012, Biological Psychiatry.

Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional.

J. Lupski, L. Biesecker, R. C. Green, 2013, JAMA.

Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

J. Lupski, P. Chance, B. Roa, 1993, Nature Genetics.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

Personal genome research : what should the participant be told?

J. Lupski, A. McGuire, 2010, Trends in genetics : TIG.

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Bethan E. Hoskins, J. Lupski, P. Scambler, 2003, American journal of human genetics.

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia

Alexander Hanbo Li, J. Lupski, R. Gibbs, 2018, Human molecular genetics.

NR2F1 mutations cause optic atrophy with intellectual disability.

L. Vissers, R. Pfundt, B. D. de Vries, 2014, American journal of human genetics.

Harnessing genomics to identify environmental determinants of heritable disease.

M. Hurles, J. Lupski, P. Awadalla, 2013, Mutation research.

Genome Medicine: past, present and future

Charles Auffray, Muin J Khoury, Timothy Caulfield, 2011, Genome Medicine.

Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

W. Chung, J. Lupski, R. Myers, 2016, bioRxiv.

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

L. Vissers, A. Hoischen, R. Pfundt, 2016, Genetics in Medicine.

From genomic medicine to precision medicine: highlights of 2015

J. Lupski, C. Auffray, M. Khoury, 2016, Genome Medicine.

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

Michael M. Khayat, Magalie S Leduc, J. Rosenfeld, 2018, bioRxiv.

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, BMC Medical Genomics.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, npj Genomic Medicine.

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral‐facial‐digital syndrome type VI

J. Lupski, R. Gibbs, S. Jhangiani, 2015, American journal of medical genetics. Part A.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

Prenatal diagnosis of Charcot–Marie–Tooth disease type 1A by interphase fluorescence in situ hybridization

L. Shaffer, J. Lupski, C. Kashork, 1999, Prenatal diagnosis.

Reanalysis of Clinical Exome Sequencing Data.

J. Rosenfeld, E. Zackai, C. Shaw, 2019, The New England journal of medicine.

Role of the 5' upstream sequence and tandem promoters in regulation of the rpsU-dnaG-rpoD macromolecular synthesis operon

J. Lupski, G. Godson, M. Nesin, 1988, Journal of bacteriology.

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2)

J. Lupski, J. Bailey-Wilson, A. Gropman, 2002, Genetics in Medicine.

Molecular Genetics and Neuropathology of Charcot‐Marie‐Tooth Disease Type 1A

J. Lupski, Carlos A. Garcia, 1992, Brain pathology.

Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction.

J. Lupski, V. Guzzetta, R. Montes de Oca‐Luna, 1991, Genomics.

Two MspI RFLPs at the D17S258 locus.

J. Lupski, Y. Nakamura, D. Rincon-Limas, 1990, Nucleic acids research.

Three polymorphisms at the D17S29 locus.

J. Lupski, D. Rincon-Limas, S. Davis, 1990, Nucleic acids research.

Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.

J. Lupski, P. Patel, A. Chakravarti, 1990, American journal of human genetics.

The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial

J. Lupski, M. Leppert, R. Lewis, 1999, Vision Research.

Incidental copy-number variants identified by routine genome testing in a clinical population

P. Stankiewicz, Ankita Patel, C. Shaw, 2012, Genetics in Medicine.

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.

J. Lupski, M. Justice, A. Bradley, 2004, Human molecular genetics.

Microbial DNA Typing by Automated Repetitive-Sequence-Based PCR

J. Lupski, J. Versalovic, R. Schrock, 2005, Journal of Clinical Microbiology.

Epidemiology of infections due to multiresistantEnterobacter aerogenes in a University Hospital

J. Lupski, C. Putensen, H. Grundmann, 1996, European Journal of Clinical Microbiology and Infectious Diseases.

Interspersed Repetitive Sequences in Bacterial Genomes

J. Lupski, J. Versalovic, 1998 .

Rapid determination of outbreak-related strains of Neisseria meningitidis by repetitive element-based polymerase chain reaction genotyping.

J. Lupski, T. Koeuth, M. Estabrook, 1996, The Journal of infectious diseases.

Cluster analysis of Helicobacter pylori genomic DNA fingerprints suggests gastroduodenal disease-specific associations.

J. Lupski, D. Graham, J. Versalovic, 1995, Scandinavian journal of gastroenterology.

The Haemophilus influenzae dnaG sequence and conserved bacterial primase motifs.

J. Lupski, J. Versalovic, James Versalovic, 1993, Gene.

Molecular epidemiology and its clinical application.

J. Lupski, 1993, JAMA.

Determination d'empreintes relatives a des souches bacteriennes par amplification repetitive de sequences d'adn

J. Lupski, J. Versalovic, T. Koeuth, 1992 .

Quality control for bacterial inhibition assays: DNA fingerprinting of microorganisms by rep-PCR

J. Lupski, J. Versalovic, E. McCabe, 1992 .

Rapid mapping of Escherichia coli::Tn5 insertion mutations by REP-Tn5 PCR.

J. Lupski, J. Versalovic, E. McCabe, 1992, PCR methods and applications.

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2012, Genetics in Medicine.

Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike.

J. Lupski, W. Bi, Jiong Yan, 2007, American journal of human genetics.

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

J. Lupski, J. Milbrandt, J. Svaren, 1999, Human molecular genetics.

Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

J. Lupski, C. Broeckhoven, E. Nelis, 1996, Neuron.

Duplication of thePMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

L. Shaffer, J. Lupski, P. Gunaratne, 2005, Human Genetics.

Localization of the human nuclear receptor corepressor (hN-CoR) gene between the CMT1A and the SMS critical regions of chromosome 17p11.2.

J. Lupski, K. Horwitz, T. Nagaya, 1999, Genomics.

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

B. Trask, J. Lupski, E. Shooter, 1993, Nature genetics.

Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era.

L. Shaffer, J. Lupski, D. Court, 2000, Genomics.

Isolation and characterization of suppressors of two Escherichia coli dnaG mutations, dnaG2903 and parB.

J. Lupski, R. Britton, 1997, Genetics.

Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.

J. Lupski, R. Lewis, B. Bejjani, 2006, Investigative ophthalmology & visual science.

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Johnathon R. Walls, Marc S. Williams, J. Lupski, 2020, European Journal of Human Genetics.

Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice

J. Lupski, Zhihong Wu, Y. Li, 2019, Journal of Medical Genetics.

The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy

J. Lupski, J. Higgins, C. Braastad, 2014, Molecular genetics & genomic medicine.

T118M PMP22 mutation causes partial loss of function and HNPP‐like neuropathy

J. Lupski, K. Szigeti, M. Scavina, 2006, Annals of neurology.

SIMPLE mutations in Charcot‐Marie‐Tooth disease and the potential role of its protein product in protein degradation

J. Lupski, K. Szigeti, W. Wiszniewski, 2005, Human mutation.

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

J. Lupski, J. Millán, F. Palau, 2005, Journal of Medical Genetics.

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Beth K. Martin, Michael P. Morrissey, J. Shendure, 2016, JAMA neurology.

An ABCA4 genomic deletion in patients with Stargardt disease

J. Lupski, A. Yatsenko, N. Shroyer, 2003, Human mutation.

Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.

J. Lupski, R. Lewis, A. Yatsenko, 2001, Investigative ophthalmology & visual science.

Bardet–Biedl syndrome is linked to DNA markers on chromosome 11 q and is genetically heterogeneous

J. Lupski, R. Lewis, L. Baird, 1994, Nature Genetics.

40 – Gene, Genomic, and Chromosomal Disorders

P. Stankiewicz, J. Lupski, 2012 .

Charcot–Marie–Tooth disease and pathways to molecular based therapies

J. Lupski, T. Harel, 2014, Clinical genetics.

A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo

M. Dennis, J. Lupski, Seneca L. Bessling, 2010, PloS one.

Interruption of SOX10 function in myelinopathies

J. Lupski, 2010, Annals of neurology.

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

J. Lupski, R. Barrantes, A. Ekici, 2009, neurogenetics.

Exome capture sequencing identifies a novel mutation in BBS4

J. Lupski, R. Gibbs, G. Mardon, 2011, Molecular vision.

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

J. Lupski, P. Scambler, R. Lewis, 2002, American journal of human genetics.

TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease

J. Lupski, Zhihong Wu, Jia Liu, 2020, Human mutation.

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

J. Lupski, P. Sieving, S. Jhangiani, 2018, PLoS genetics.

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy

J. Lupski, R. Gibbs, D. Muzny, 2015, Ophthalmic genetics.

Analysis of the ABCA4 genomic locus in Stargardt disease.

J. Lupski, P. Gouras, S. Tsang, 2014, Human molecular genetics.

A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes

Kim C. Worley, Stephen J. Ansley, Nicholas Katsanis, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.

J. Lupski, M. Leppert, R. Lewis, 2002, Investigative ophthalmology & visual science.

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot‐Marie‐Tooth disease

J. Lupski, R. Lovelace, P. Chance, 1996, Human mutation.

(del(17)(p11.2p11.2)) Topical Review: Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome

J. Lupski, A. Goldman, L. Potocki, 2013 .

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

J. Lupski, M. Justice, S. Wu, 2006, Human Genetics.

Charcot-Marie-Tooth disease and related inherited neuropathies.

J. Lupski, L. Reiter, C A Garcia, 1996, Medicine.

A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

J. Lupski, K. Fischbeck, S. Züchner, 2013, Human mutation.

Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.

J. Lupski, Z. -. Sun, C. C. Lee, 1997, Genomics.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, NPJ genomic medicine.

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

J. Lupski, F. Kortüm, V. Sutton, 2019, American journal of medical genetics. Part A.

Charcot–Marie–Tooth disease

J. Lupski, K. Szigeti, 1994, European Journal of Human Genetics.

PRACTICAL GENETICS In association with Charcot – Marie – Tooth disease

J. Lupski, 2009 .

Prenatal Diagnosis of Charcot‐Marie‐Tooth Disease Type 1A

L. Shaffer, J. Lupski, Ken-Shiung Chen, 1999, Annals of the New York Academy of Sciences.

Molecular genetics of Charcot-Marie-Tooth neuropathy.

J. Lupski, B. Roa, J. Lupski, 1994, Advances in human genetics.

Charcot-Marie-Tooth Disease and Related Inherited Myelin Disorders Molecular Genetics and Implications for Gene Therapy

J. Lupski, B. Roa, 1994 .

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

J. Lupski, G. Ravenscroft, N. Laing, 2020, Nature Communications.

Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

J. Lupski, C. Wise, F. Greenberg, 1993, Progress in clinical and biological research.

Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2.

J. Lupski, L. Potocki, K. S. Chen, 1999, Genomics.

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

J. Lupski, S. Ellard, W. Yoon, 2020, bioRxiv.

Balancing between Adaptive and Maladaptive Cellular Stress Responses in Peripheral Neuropathy

J. Lupski, M. Khajavi, 2008, Neuron.

Molecular genetics, biology, and therapy for inherited peripheral neuropathies

J. Lupski, V. Timmerman, P. Jonghe, 2007, NeuroMolecular Medicine.

DNA-based identification and epidemiologic typing of bacterial pathogens.

J. Lupski, J. Versalovic, R. Hamill, 1993, Archives of pathology & laboratory medicine.

Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition.

J. Lupski, B. Roa, Benjamin B. Roa, 1993, The American journal of the medical sciences.

I1: Molecular mechanisms for rearrangements and their conveyed phenotypes in genomic disorders

P. Stankiewicz, J. Lupski, W. Bi, 2005 .

Bacterial genomes : physical structure and analysis

F. J. de Bruijn, George M. Weinstock, J. Lupski, 1998 .

A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.

J. Lupski, T. Murakami, 1996, Genomics.

Molecular mechanisms for Charcot-Marie-Tooth disease and related demyelinating peripheral neuropathies.

J. Lupski, L. Reiter, L. E. Warner, 1996, Cold Spring Harbor symposia on quantitative biology.

SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma

M Nakagawa, J. Lupski, C. Boerkoel, 2004, Neurology.

Molecular mechanisms for transposition of drug-resistance genes and other movable genetic elements.

J. Lupski, 1987, Reviews of infectious diseases.

The use of transposon Tn5 mutagenesis in the rapid generation of correlated physical and genetic maps of DNA segments cloned into multicopy plasmids--a review.

J. Lupski, F. D. de Bruijn, 1984, Gene.

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

J. Rosenfeld, J. Lupski, R. Gibbs, 2021, Brain : a journal of neurology.

A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of medical genetics. Part A.

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

J. Lupski, R. Gibbs, D. Muzny, 2023, American journal of medical genetics. Part A.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

J. Lupski, Zhihong Wu, Shuyang Zhang, 2019, bioRxiv.

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis

J. Lupski, G. Mardon, R. Lewis, 2011, Human Genetics.

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

J. Lupski, R. Lewis, N. Katsanis, 2003, American journal of human genetics.

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

Richard A. Lewis, Stephen J. Ansley, William S. Davidson, 2000, Nature Genetics.

An Mspl RFLP at the D17S258 locus

J. Lupski, D. Rincon-Limas, B. Franco, 1991 .

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

DUF1220-domain copy number implicated in human brain-size pathology and evolution.

J. Lupski, S. Cheung, J. Sikela, 2012, American journal of human genetics.

Comparison of left-end DNA sequences of bacteriophages Mu and D108.

J. Lupski, G. Godson, A. I. Bukhari, 1985, Gene.

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

J. Lupski, S. Jhangiani, K. Doheny, 2021, Orphanet Journal of Rare Diseases.

The hand in Smith–Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis

J. Lupski, A. Poznanski, L. Potocki, 2003, Pediatric Radiology.

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

J. Lupski, Zhihong Wu, A. Nordgren, 2022, NPJ genomic medicine.

Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.

J. Lupski, Zhihong Wu, Shuyang Zhang, 2021, Journal of genetics and genomics = Yi chuan xue bao.

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)

Joshua D. Wythe, J. Lupski, Zhihong Wu, 2018, Journal of Medical Genetics.

An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

J. Lupski, 1992, Clinical research.

Compensating for central nervous system dysmyelination: Females with a proteolipid protein gene duplication and sustained clinical improvement

L. Shaffer, J. Lupski, F. Scaglia, 2001, Annals of neurology.

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome

J. Lupski, C. Stratakis, N. Pellegata, 2016, Endocrine.

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

A. Pagnamenta, J. Lupski, T. Nägele, 2021, American journal of human genetics.

Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation

J. Lupski, J. Belmont, K. Szigeti, 2003, Annals of neurology.

Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.

J. Lupski, C. Cunningham-Rundles, W. Gu, 2011, The Journal of allergy and clinical immunology.

Confounding by Repetitive Elements and CpG Islands Does Not Explain the Association between Hypomethylation and Genomic Instability

L. D. White, A. C. Chinault, Ankita Patel, 2013, PLoS genetics.

Functional analysis of mutations in the transcription terminator T1 that suppress two dnaG alleles in Escherichia coli

J. Lupski, R. Britton, 1995, Molecular and General Genetics MGG.

Segregation of the Bacterial Chromosome

J. Lupski, R. Britton, 1998 .

Missense mutations in the 3' end of the Escherichia coli dnaG gene do not abolish primase activity but do confer the chromosome-segregation-defective (par) phenotype.

J. Lupski, J. Versalovic, 1997, Microbiology.

Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine‐Sottas case

J. Lupski, M. Shohat, Z. Shorer, 1997, Human mutation.

The rpsU-dnaG-rpoD macromolecular synthesis operon of E. coli

J. Lupski, G. Godson, James R. Lupski, 1984, Cell.

Sequences of the Escherichia coli dnaG primase gene and regulation of its expression.

J. Lupski, G. Godson, R. McMacken, 1982, Proceedings of the National Academy of Sciences of the United States of America.

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

J. Lupski, J. Orange, R. Geha, 2016, The Journal of allergy and clinical immunology.

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

J. Lupski, R. Gibbs, S. Jhangiani, 2021, Annals of clinical and translational neurology.

The CMT1A duplication

J. Lupski, V. Timmerman, 2020, Medizinische Genetik.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

J. Rosenfeld, J. Lupski, R. Gibbs, 2020, Annals of clinical and translational neurology.

Mutational analysis of the Escherichia coli glpFK region with Tn5 mutagenesis and the polymerase chain reaction

J. Lupski, E. McCabe, T. Koeuth, 1990, Journal of bacteriology.

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

J. Lupski, S. Fisher, D. Jagger, 2005, Nature Genetics.

Characterization of the macromolecular synthesis (MMS) operon from Listeria monocytogenes.

J. Lupski, M. Staver, J. Versalovic, 1994, Gene.

Cloning, sequencing, and species relatedness of the Escherichia coli cca gene encoding the enzyme tRNA nucleotidyltransferase.

J. Lupski, M. Deutscher, G. Godson, 1986, The Journal of biological chemistry.

In vitro stimulation of Escherichia coli RNA polymerase sigma subunit synthesis by NusA protein.

J. Lupski, H. Weissbach, G. Godson, 1985, Gene.

A Recurrent loss‐of‐function alanyl‐tRNA synthetase (AARS ) mutation in patients with charcot‐marie‐tooth disease type 2N (CMT2N)

J. Lupski, Yi-Chung Lee, S. Züchner, 2012, Human mutation.

Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization

J. Lupski, J. Rogers, P. Liu, 2016, Genomics data.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Gao T. Wang, Mahshid S. Azamian, M. Hurles, 2013, American journal of human genetics.

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.

J. Lupski, R. Gibbs, S. Jhangiani, 2018, Molecular genetics and metabolism.

Mutations in VRK 1 AssociatedWith ComplexMotor and Sensory Axonal Neuropathy PlusMicrocephaly

J. Lupski, R. Gibbs, E. Boerwinkle, 2013 .

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Jill A. Madden, J. Lupski, R. Tenconi, 2021, Genetics in Medicine.

Structure and organization of genes for sporozoite surface antigens.

J. Lupski, G. Godson, L. S. Ozaki, 1984, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

Human NK cell deficiency as a result of biallelic mutations in MCM10

Ivan K. Chinn, J. Lupski, R. Gibbs, 2019, bioRxiv.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Vinodh Narayanan, Christian Kubisch, Dominique Bonneau, 2018, American journal of human genetics.

Promotion, termination, and anti-termination in the rpsU-dnaG-rpoD macromolecular synthesis operon of E. coli K-12

J. Lupski, G. Godson, A. Ruiz, 2004, Molecular and General Genetics MGG.

Regulation of the rpsU-dnaG-rpoD macromolecular synthesis operon and the initiation of DNA replication in Escherichia coli K-12

J. Lupski, G. Godson, B. Smiley, 2004, Molecular and General Genetics MGG.

Cloning and characterization of the Escherichia coli chromosomal region surrounding the dnaG gene, with a correlated physical and genetic map of dnaG generated via transposon Tn5 mutagenesis

J. Lupski, F. Blattner, G. Godson, 2004, Molecular and General Genetics MGG.

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.

Ivan K. Chinn, J. Lupski, R. Gibbs, 2020, The Journal of clinical investigation.

Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family

J. Lupski, Zhihong Wu, J. Posey, 2019, Journal of NeuroInterventional Surgery.

Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

J. Lupski, R. Gibbs, S. Jhangiani, 2021, Genetics in Medicine.

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

Mahshid S. Azamian, J. Rosenfeld, J. Lupski, 2016, American journal of human genetics.

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO

Mahshid S. Azamian, J. Rosenfeld, A. Breman, 2016, Journal of Medical Genetics.

Excess folic acid intake increases DNA de novo point mutations

J. Lupski, B. Wlodarczyk, R. Finnell, 2023, Cell Discovery.

RecQ promotes toxic recombination in cells lacking recombination intermediate-removal proteins.

J. Lupski, S. Rosenberg, Matthew D. Blankschien, 2007, Molecular cell.

Molecular characterization of a patient with del(1)(q23–q25)

B. Trask, D. Ledbetter, J. Lupski, 1991, Human Genetics.

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

J. Lupski, S. Berkovic, A. Mégarbané, 2005, Neurology.

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.

J. Lupski, S. Jhangiani, H. Cross, 2020, Parkinsonism & related disorders.

CAV3 mutation in a patient with transient hyperCKemia and myalgia.

P. Stankiewicz, P. Szafranski, J. Lupski, 2016, Neurologia i neurochirurgia polska.

Is the carboxyl‐terminus of dystrophin required for membrane association? A novel, severe case of duchenne muscular dystrophy

J. Lupski, J. Chamberlain, R. Fenwick, 1991, Annals of neurology.

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.

J. Kitzman, J. Lupski, A. Nesvizhskii, 2019, The Journal of clinical investigation.

Increased RPA1 Gene Dosage Affects Genomic Stability Potentially Contributing to 17p13.3 Duplication Syndrome

J. Lupski, W. Bi, M. O’Driscoll, 2011, PLoS genetics.

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency.

J. Lupski, F. Baas, R. Badolato, 2020, Blood.

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168

Ivan K. Chinn, J. Lupski, J. Orange, 2017, Front. Immunol..

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.

J. Lupski, J. Orange, G. Barber, 2018, Cell reports.

Low factor XII level in an individual with Sotos syndrome

J. Lupski, Joseph J Shen, A. Patel, 2005, Pediatric blood & cancer.

Whole-Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia

J. Lupski, R. Gibbs, D. Muzny, 2014, Journal of pediatric gastroenterology and nutrition.

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

J. Lupski, R. Gibbs, D. Muzny, 2015, Human Genetics.

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Nicolas Guex, Arthur A M Wilde, Alexandre Reymond, 2016, American journal of human genetics.

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Nicolas Guex, Arthur A M Wilde, Alexandre Reymond, 2016, American journal of human genetics.

Use of the polymerase chain reaction for physical mapping of Escherichia coli genes

J. Lupski, J. Versalovic, E. McCabe, 1991, Journal of bacteriology.

Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13

J. R. Smith, J. Lupski, N. Katsanis, 2000, Human Genetics.

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy.

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, American journal of human genetics.

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

J. Lupski, You-Qiang Song, Zhihong Wu, 2018, Human Genetics.

Risk of sudden cardiac death in EXOSC5‐related disease

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of medical genetics. Part A.

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

J. Lupski, S. Jhangiani, J. Belmont, 2018, European Journal of Human Genetics.

TO JMG Deletion 9 q 34 . 3 syndrome : genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

P. Stankiewicz, J. Lupski, S. Cheung, 2005 .

SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia

J. Lupski, T. Gambin, R. Zemet, 2023, Research square.

Cloning and nucleotide sequence of a chromosomally encoded tetracycline resistance determinant, tetA(M), from a pathogenic, methicillin-resistant strain of Staphylococcus aureus

J. Lupski, J. Kornblum, B. Kreiswirth, 1990, Antimicrobial Agents and Chemotherapy.

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

Lisa T. Emrick, Ellen F. Macnamara, Barbara N. Pusey, 2023, American journal of human genetics.

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

J. Lupski, A. Balduini, H. Lochmüller, 2023, American journal of human genetics.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

J. Lupski, R. Gibbs, D. Muzny, 2014, European Journal of Human Genetics.

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.

J. Lupski, J. Buchan, G. Pazour, 2022, Kidney international.

Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

J. Lupski, R. Gibbs, S. Jhangiani, 2020, Brain : a journal of neurology.

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, BMC Medical Genomics.

SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia

P. Stankiewicz, J. Lupski, T. Gambin, 2023, Human Genetics.

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family

J. Lupski, R. Gibbs, S. Jhangiani, 2022, American journal of medical genetics. Part A.

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

J. Lupski, R. Gibbs, D. Muzny, 2023, HGG advances.

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

J. Lupski, V. Sutton, S. Penney, 2014, European journal of medical genetics.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

FOXI3 pathogenic variants cause one form of craniofacial microsomia

J. Lupski, Xiaogang Wang, S. Antonarakis, 2023, Nature Communications.

A large CRISPR-induced bystander mutation causes immune dysregulation

Mark S. Anderson, Daniel S. Rokhsar, James Zou, 2019, Communications Biology.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

J. Lupski, R. Gibbs, E. Boerwinkle, 2018, European Journal of Human Genetics.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

Plasmids for the selection and analysis of prokaryotic promoters.

J. Lupski, J. Brosius, 1987, Methods in enzymology.

Secondary findings and carrier test frequencies in a large multiethnic sample

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, Genome Medicine.

PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, BMC Genomics.

Human genome meeting 2016

A. Pang, W. Chung, J. Lupski, 2016, Human Genomics.

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

J. Lupski, D. Seelow, D. Horn, 2023, European Journal of Human Genetics.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Clinical presentation and evolution of Xia‐Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)

J. Lupski, K. Devriendt, V. Bours, 2020, American Journal of Medical Genetics. Part A.

Genetic architecture of laterality defects revealed by whole exome sequencing

Alexander Hanbo Li, Mahshid S. Azamian, J. Lupski, 2019, European Journal of Human Genetics.

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Identification of ABCA4 Regulatory Mutations in Stargart Families

J. Lupski, W. Wiszniewski, R. Lewis, 2005 .

Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet–Biedl syndrome

J. Lupski, S. Wu, N. Katsanis, 2007, Vision Research.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

J. Lupski, S. Bale, S. Lalani, 2016, Human Genetics.

Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy

J. Lupski, R. Gibbs, D. Muzny, 2014, Journal of Clinical Immunology.

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits

J. Lupski, R. Gibbs, S. Jhangiani, 2023, Clinical genetics.

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia.

J. Lupski, R. Gibbs, S. Jhangiani, 2015, Fertility and sterility.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Rebecca C. Spillmann, Q. K. Tan, J. Lupski, 2023, medRxiv.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical Epigenetics.

Genetic immunodeficiency and autoimmune disease reveal distinct roles of Hem1 in the WAVE2 and mTORC2 complexes

Andrew J. Oler, Ivan K. Chinn, J. Lupski, 2019, bioRxiv.

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene

J. Lupski, P. Gouras, A. Hutchinson, 2003, Human mutation.

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Alexander Hanbo Li, Mahshid S. Azamian, J. Rosenfeld, 2017, Genome Medicine.

Human genome meeting 2016

Kumar Kshitij Patel, A. Pang, W. Chung, 2016, Human Genomics.

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

Ivan K. Chinn, J. Lupski, S. Jhangiani, 2019, Front. Pediatr..

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.

Chimeric transcripts resulting from complex duplications in chromosome Xq28

J. Lupski, C. Carvalho, Benjamin Alleva, 2016, Human Genetics.

Somatic cell structural variant mutagenesis and neurologic disease

J. Lupski, 2023, Cell genomics.

SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads

J. Lupski, R. Gibbs, D. Muzny, 2017, BMC Genomics.

The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits

C. Shaw, J. Lupski, R. Gibbs, 2023, bioRxiv.

Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta‐analysis of 105 cases

J. Lupski, P. Patel, S. Girirajan, 2007, Clinical genetics.

Molecular Epidemiological Analysis of the Changing Nature of a Meningococcal Outbreak following a Vaccination Campaign

J. Lupski, A. Beaudet, D. Behar, 2002, Journal of Clinical Microbiology.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Vertebrate genome evolution and the zebrafish gene map

Margaret R. Thomson, J. Lupski, A. Force, 1998, Nature Genetics.

Human Mutation

Michael F. Wangler, Nurit Assia Batzir, Katerina O. Wells, 2020 .

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, Ankita Patel, C. Shaw, 2019, Genome Medicine.

Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role of Autonomic Testing, Nerve Biopsy, and Skin Biopsy (An Evidence‐Based Review)

J. Lupski, K. Szigeti, Robert G. Miller, 2009, PM & R : the journal of injury, function, and rehabilitation.

Corrigendum: A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

J. Lupski, J. Nathans, A. Peiffer, 1997, Nature Genetics.

Exploring the utility of whole‐exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

David R. Murdock, J. Lupski, R. Gibbs, 2013, Clinical genetics.

Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.

P. Stankiewicz, Z. Xia, J. Lupski, 2010, European journal of medical genetics.

Charcot-Marie-Tooth disease and related inherited neuropathies.

J. Lupski, L. Reiter, T. Murakami, 1996, Medicine.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

ROBO4 Variants Predispose Individuals to Bicuspid Aortic Valve and Thoracic Aortic Aneurysm

Russell A. Gould, Christopher L. Bennett, J. Lupski, 2018, Nature Genetics.

Detection of the CMTlA/HNPP recombination hotspot in unrelated patients of European descent

J. Lupski, E. Nelis, T. Koeuth, 2022 .

J. Lupski, R. Barrantes, A. Ekici, 2009, neurogenetics.

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

J. Lupski, T. Scott, F. High, 2023, The American Journal of Human Genetics.

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

C. Shaw, J. Lupski, R. Gibbs, 2016, Human mutation.

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Z. Ou, Ankita Patel, J. Lupski, 2008, American Journal of Human Genetics.

Detection of clinically relevant exonic copy‐number changes by array CGH

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, Human mutation.

Genomic hypomethylation in the human germline associates with structural mutability in the human genome

L. D. White, A. C. Chinault, Ankita Patel, 2012 .

Approaches for identifying germ cell mutagens: Report of the 2013 IWGT workshop on germ cell assays(☆).

J. Lupski, M. Waters, M. Aardema, 2015, Mutation research. Genetic toxicology and environmental mutagenesis.

Inverted Low‐Copy Repeats and Genome Instability—A Genome‐Wide Analysis

P. Stankiewicz, J. Lupski, C. Carvalho, 2013, Human mutation.

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

J. Lupski, L. Potocki, M. Withers, 2010, American journal of human genetics.

Whole-Exome Sequencing in Familial Parkinson Disease.

J. Lupski, R. Gibbs, R. Myers, 2016, JAMA neurology.

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.

J. Rosenfeld, J. Lupski, S. Lalani, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING.

Ivan K. Chinn, J. Lupski, J. Orange, 2018, Cell reports.

Charcot-Marie-Tooth disease and related inherited neuropathies.

J. Lupski, L. Reiter, Carlos A. Garcia, 1996, Medicine.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

W. Chung, J. Lupski, R. Gibbs, 2015, Neuron.

Genomic disorders: A window into human gene and genome evolution

J. Lupski, C. Carvalho, Feng Zhang, 2010, Proceedings of the National Academy of Sciences.

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.

J. Lupski, 1998, Trends in genetics : TIG.

Mechanisms for recurrent and complex human genomic rearrangements.

J. Lupski, C. Carvalho, P. Hastings, 2012, Current opinion in genetics & development.

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.

A. C. Chinault, J. Lupski, S. Cheung, 2009, Human molecular genetics.

Localization of mariner DNA transposons in the human genome by PRINS.

J. Lupski, T. Liehr, B. Rautenstrauss, 1999, Genome research.

An evaluation of the draft human genome sequence

J. Lupski, K. Worley, N. Katsanis, 2001, Nature genetics.

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

L. Vissers, R. Pfundt, N. de Leeuw, 2014, Genomics data.

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in drosophila.

J. Lupski, H. Bellen, J. Fock, 2022, Human molecular genetics.

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

J. Lupski, R. Gibbs, A. Sabo, 2014, American journal of human genetics.

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, medRxiv.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

J. Lupski, S. Lalani, Matteo P. Ferla, 2023, Brain : a journal of neurology.

Human genome meeting 2016

Kumar Kshitij Patel, Jose Maria Gonzalez-Izarzugaza, A. Pang, 2016, Human Genomics.

Mutation survey of known LCA genes and loci in the Saudi Arabian population.

J. Lupski, R. Gibbs, G. Mardon, 2009, Investigative Ophthalmology and Visual Science.

Practice Parameter: The Evaluation of Distal Symmetric Polyneuropathy: The Role of Laboratory and Genetic Testing (An Evidence‐Based Review)

J. Lupski, K. Szigeti, Robert G. Miller, 2009, PM & R : the journal of injury, function, and rehabilitation.

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.

J. Lupski, G. Braunstein, F. Faucz, 2015, European journal of endocrinology.

X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

J. Lupski, F. Faucz, Jacques Young, 2015, Endocrine-related cancer.

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

J. Lupski, R. Gibbs, E. Boerwinkle, 2014, Cell.

Assessing structural variation in a personal genome—towards a human reference diploid genome

Caleb F. Davis, P. Stankiewicz, J. Lupski, 2015, BMC Genomics.

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.

J. Lupski, R. Gibbs, E. Boerwinkle, 2013, JAMA neurology.

A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

J. Lupski, K. Fischbeck, S. Züchner, 2013, Human mutation.

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.

A. Reymond, J. Lupski, K. Walz, 2008, Human molecular genetics.

Increased blood–brain barrier permeability with thymidine phosphorylase deficiency

J. Lupski, K. Szigeti, A. Adesina, 2004, Annals of neurology.

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

J. Lupski, P. Sulem, S. Küry, 2024, American journal of human genetics.

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

J. Lupski, S. Jhangiani, D. Calame, 2023, Nucleic acids research.

Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain

J. Lupski, B. Menten, P. Lapunzina, 2011 .

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A.

L. Shaffer, J. Lupski, C. Kashork, 1999, Annals of the New York Academy of Sciences.

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

C. Cytrynbaum, R. Weksberg, J. Lupski, 2024, NPJ genomic medicine.

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.

J. Rosenfeld, J. Lupski, C. Bönnemann, 2023, American journal of human genetics.