S. Jhangiani

发表

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

Joshua M. Korn, Christopher A. Miller, Derek Y. Chiang, 2008, Nature.

Somatic mutations affect key pathways in lung adenocarcinoma

Brian H. Dunford-Shore, T. Fennell, K. Cibulskis, 2008, Nature.

The Common Marmoset Genome Provides Insight into Primate Biology and Evolution

Albert J. Vilella, Charles E. Vejnar, Matthew W. Hahn, 2014, Nature Genetics.

The sheep genome illuminates biology of the rumen and lipid metabolism

Bronwen L. Aken, S. Searle, P. Flicek, 2014, Science.

The Drosophila melanogaster Genetic Reference Panel

Kevin R. Thornton, Maite G. Barrón, R. Gibbs, 2012, Nature.

Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

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

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

B. V. van Bon, A. Hoischen, J. Lupski, 2018, American journal of human genetics.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Karynne E. Patterson, Debra J. H. Mathews, J. Shendure, 2015, American journal of human genetics.

The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits

C. Shaw, J. Lupski, R. Gibbs, 2020, bioRxiv.

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

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

Lessons learned from additional research analyses of unsolved clinical exome cases

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, Genome Medicine.

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

Eric Boerwinkle, William B. Dobyns, Tomasz Gambin, 2014, Cell.

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo

H. Peeters, J. Lupski, S. Jhangiani, 2018, American journal of medical genetics. Part A.

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

David N. Messina, Ryan D. Hernandez, Jeffery P. Demuth, 2007, Science.

Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development

Yoshiyuki Sakaki, Sumio Sugano, Anthony T Papenfuss, 2011, Genome Biology.

Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development

S. Searle, G. Weinstock, R. Gibbs, 2013, Genome Biology.

The First Myriapod Genome Sequence Reveals Conservative Arthropod Gene Content and Genome Organisation in the Centipede Strigamia maritima

Galina A. Erikson, Peshtewani K. Aqrawi, Adelaide C. Rhodes, 2014, PLoS biology.

A Massive Expansion of Effector Genes Underlies Gall-Formation in the Wheat Pest Mayetiola destructor

Susan J. Brown, Martin N. Andersson, D. Muzny, 2015, Current Biology.

Hemichordate genomes and deuterostome origins

Nicholas H. Putnam, R. Gibbs, L. Peshkin, 2015, Nature.

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

J. Lupski, R. Gibbs, D. Muzny, 2013, Genome Medicine.

Germline mutations in shelterin complex genes are associated with familial glioma.

R. Gibbs, K. Aldape, D. Muzny, 2015, Journal of the National Cancer Institute.

Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genetics in Medicine.

Secondary findings and carrier test frequencies in a large multiethnic sample

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, Genome Medicine.

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

Justyna A. Karolak, P. Stankiewicz, C. Shaw, 2020, Genetics in Medicine.

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

J. Rosenfeld, H. Hakonarson, J. Lupski, 2019, Brain : a journal of neurology.

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

C. Shaw, J. Lupski, R. Gibbs, 2016, Nucleic acids research.

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.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Ivan K. Chinn, Eric A. Smith, J. Lupski, 2017, The Journal of allergy and clinical immunology.

Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20

J. Lupski, R. Gibbs, D. Muzny, 2015, Acta cardiologica.

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.

Genomic innovations, transcriptional plasticity and gene loss underlying the evolution and divergence of two highly polyphagous and invasive Helicoverpa pest species

K. C. Worley, S. L. Pearce, L. S. Jermiin, 2017, BMC Biology.

The Genome of the Model Beetle and Pest Tribolium Castaneum Vertebrate-specific Orthologues Insect-specific Orthologues Homology Undetectable Similarity

Peer Bork, Alexandre Souvorov, Liangjiang Wang, 2022 .

Cerebral visual impairment and intellectual disability caused by PGAP1 variants

J. Lupski, S. Jhangiani, F. Cremers, 2015, European Journal of Human Genetics.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Michael F. Wangler, Katerina O. Wells, E. Roeder, 2019, Human mutation.

Rhesus Macaque Genome Sequencing and Analysis Rhesus Macaque Genome Evolutionary and Biomedical Insights from the

Christian J. Buhay, Granger G. Sutton, Yan Ding, 2010 .

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

B. V. van Bon, A. Hoischen, J. Lupski, 2016, American journal of human genetics.

Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.

R. Gibbs, S. Jhangiani, M. Bainbridge, 2017, Molecular genetics and metabolism.

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

J. Lupski, R. Gibbs, D. Muzny, 2019, The Journal of clinical endocrinology and metabolism.

Targeted Sequencing in Chromosome 17q Linkage Region Identifies Familial Glioma Candidates in the Gliogene Consortium

R. Gibbs, K. Aldape, D. Muzny, 2015, Scientific Reports.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

B. D. de Vries, T. Matise, E. Boerwinkle, 2020, American journal of medical genetics. Part A.

Berardinelli-Seip syndrome patient with novel AGPAT 2 splicesite mutation and concomitant development of non-diabetic polyneuropathy Short title : New AGPAT 2 splicesite mutation with polyneuropathy

Alicja, J. Lupski, S. Jhangiani, 2019 .

Berardinelli-Seip syndrome patient with novel AGPAT2 splicesite mutation and concomitant development of non-diabetic polyneuropathy

J. Lupski, S. Jhangiani, W. Wiszniewski, 2018, Journal of clinical research in pediatric endocrinology.

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Joshua L. Deignan, D. Geschwind, S. Nelson, 2020, Human mutation.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Donna M. Martin, J. Rosenfeld, J. Lupski, 2016, American journal of human genetics.

A Genocentric Approach to Discovery of Mendelian Disorders.

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2019, American journal of human genetics.

Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant

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

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs

P. Stankiewicz, P. Szafranski, J. Lupski, 2016, American journal of medical genetics. Part A.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

Variant‐level matching for diagnosis and discovery: Challenges and opportunities

J. Lupski, S. Jhangiani, M. Bamshad, 2022, Human mutation.

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

L. Vissers, A. Hoischen, J. Lupski, 2017, European Journal of Human Genetics.

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.

Alyssa A. Tran, Denise G. Lanza, J. Rosenfeld, 2021, American journal of human genetics.

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

J. Lupski, R. Gibbs, S. Jhangiani, 2019, Annals of clinical and translational neurology.

Biallelic variants in KIF14 cause intellectual disability with microcephaly

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

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.

J. Lupski, R. Gibbs, D. Muzny, 2016, JIMD reports.

De novo mutation and identity-by-descent drive disease haplotypes, biallelic traits and multilocus pathogenic variation

C. Shaw, J. Lupski, R. Gibbs, 2022, bioRxiv.

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Annals of neurology.

Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

J. Lupski, R. Gibbs, D. Muzny, 2022, Human mutation.

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

J. Lupski, S. Leal, S. Jhangiani, 2021, Human Genetics.

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy

J. Lupski, R. Gibbs, S. Jhangiani, 2021, Neurology: Genetics.

FBN1 contributing to familial congenital diaphragmatic hernia

Alexander Hanbo Li, J. Lupski, R. Gibbs, 2015, American journal of medical genetics. Part A.

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

Ankita Patel, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

Mutations in PI3K110&dgr; cause impaired natural killer cell function partially rescued by rapamycin treatment

J. Lupski, R. Gibbs, D. Muzny, 2018, The Journal of allergy and clinical immunology.

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.

J. Lupski, S. Jhangiani, J. Orange, 2020, Journal of Allergy and Clinical Immunology: In Practice.

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Mark S. Anderson, Christopher S. Law, J. Lupski, 2015, Nature Genetics.

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

J. Lupski, R. Gibbs, S. Jhangiani, 2022, HGG advances.

Erratum to: Genomic innovations, transcriptional plasticity and gene loss underlying the evolution and divergence of two highly polyphagous and invasive Helicoverpa pest species

R. Gibbs, G. Sutton, B. Walenz, 2017, BMC Biology.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Lisa T. Emrick, Ivan K. Chinn, Denise G. Lanza, 2019, American journal of human genetics.

Identification of Intellectual Disability Genes in Female Patients with a Skewed X‐Inactivation Pattern

J. Lupski, R. Gibbs, D. Muzny, 2016, Human mutation.

Germ-line and somatic DICER1 mutations in pineoblastoma

J. Lupski, S. Jhangiani, W. Foulkes, 2014, Acta Neuropathologica.

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait

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

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Lisa T. Emrick, Ivan K. Chinn, J. Rosenfeld, 2018, American journal of human 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 mutations in IRF8 impair human NK cell maturation and function

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

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.

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

Feng Zhang, S. Jhangiani, Zhihong Wu, 2022 .

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.

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.

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.

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.

Novel genetic causes for cerebral visual impairment

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

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.

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..

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.

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.

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.

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.

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.

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, J. Lupski, R. Gibbs, 2020, Science.

Phenotypic Expansion Illuminates Multilocus Pathogenic Variation

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

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

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

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

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

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.

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

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

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

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

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.

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

R A Gibbs, B. V. van Bon, E. Haan, 2015, Molecular Psychiatry.

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

J. Lupski, R. Gibbs, D. Muzny, 2014, European 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.

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.

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

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

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.

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.

Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young

David R. Murdock, Michael M. Khayat, R. Gibbs, 2021, Pediatric diabetes.

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

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

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

Alyssa A. Tran, Denise G. Lanza, J. Rosenfeld, 2020, bioRxiv.

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.

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.

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.

Whole‐Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI

Alyssa A. Tran, R. Gibbs, S. Jhangiani, 2018, JBMR plus.

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.

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.

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

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

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.

INAUGURAL ARTICLE by a Recently Elected Academy Member:Epistasis dominates the genetic architecture of Drosophila quantitative traits

R. Gibbs, D. Muzny, S. Jhangiani, 2012 .

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.

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.

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.

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

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

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

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

Centers for Mendelian Genomics: A decade of facilitating gene discovery

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

Exome variant discrepancies due to reference genome differences.

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

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.

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.

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

Mahshid S. Azamian, Magalie S Leduc, B. Coe, 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.

Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds

R. Gibbs, P. Taberlet, F. Pompanon, 2018, Nature Communications.

Whole-Exome Sequencing in Familial Parkinson Disease.

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

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.

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

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

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

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

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

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

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

C. Shaw, J. Lupski, R. Gibbs, 2016, Human mutation.

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.

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.

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

L. Vissers, A. Hoischen, R. Pfundt, 2016, Genetics in Medicine.

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

A. V. Vulto-van Silfhout, P. Lockhart, D. Muzny, 2014, Orphanet Journal of Rare Diseases.

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.

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.

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Michael P. Morrissey, J. Shendure, J. Lupski, 2016, JAMA neurology.

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.

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

R. Gibbs, D. Muzny, S. Jhangiani, 2013, Human molecular genetics.

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.

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

J. Lupski, S. Jhangiani, K. Doheny, 2021, Orphanet Journal of Rare Diseases.

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.

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

J. Lupski, R. Gibbs, S. Jhangiani, 2021, Annals of clinical and translational neurology.

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

J. Rosenfeld, J. Lupski, R. Gibbs, 2020, Annals of clinical and translational neurology.

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 .

Human NK cell deficiency as a result of biallelic mutations in MCM10

J. Lupski, R. Gibbs, D. Muzny, 2019, bioRxiv.

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.

J. Lupski, R. Gibbs, D. Schatz, 2020, The Journal of clinical investigation.

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.

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

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

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.

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.

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.

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 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.

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.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

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

Secondary findings and carrier test frequencies in a large multiethnic sample

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, Genome Medicine.

Human genome meeting 2016

A. Pang, W. Chung, J. Lupski, 2016, Human Genomics.

Genetic architecture of laterality defects revealed by whole exome sequencing

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

Genetic immunodeficiency and autoimmune disease reveal distinct roles of Hem1 in the WAVE2 and mTORC2 complexes

Andrew J. Oler, J. Lupski, R. Gibbs, 2019, bioRxiv.

Germ cell selection in genetic mosaics in Drosophila melanogaster

Kevin R. Thornton, Maite G. Barrón, Yiming Zhu, 2022 .

The common marmoset genome provides insight into primate biology and evolution

Albert J. Vilella, Charles E. Vejnar, Miriam K. Konkel, 2014, Nature 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.

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

J. Lupski, S. Jhangiani, J. Orange, 2019, Front. Pediatr..

The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits

C. Shaw, J. Lupski, R. Gibbs, 2023, bioRxiv.

Human Mutation

Michael F. Wangler, Nurit Assia Batzir, Katerina O. Wells, 2019 .

Human genome meeting 2016

Kumar Kshitij Patel, Jose Maria Gonzalez-Izarzugaza, A. Pang, 2016, Human Genomics.

INAUGURAL ARTICLE by a Recently Elected Academy Member:Epistasis dominates the genetic architecture of Drosophila quantitative traits

R. Gibbs, S. Jhangiani, T. Mackay, 2012 .

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

C. Shaw, J. Lupski, R. Gibbs, 2016, Human mutation.

Somatic mutations affect key pathways in lung adenocarcinoma

Brian H. Dunford-Shore, T. Fennell, K. Cibulskis, 2008, Nature.

Whole-Exome Sequencing in Familial Parkinson Disease.

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

The genome of the model beetle and pest Tribolium castaneum

Susan J. Brown, Jeffery P. Demuth, Robert M. Waterhouse, 2008, Nature.

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

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

Epistasis dominates the genetic architecture of Drosophila quantitative traits

R. Gibbs, S. Jhangiani, T. Mackay, 2012, Proceedings of the National Academy of Sciences.

NR2F1 mutations cause optic atrophy with intellectual disability.

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

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

David N. Messina, Matthew W. Hahn, Miriam K. Konkel, 2007 .

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

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

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

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

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

J. Lupski, S. Jhangiani, D. Calame, 2023, Nucleic acids research.