Bo Yuan

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Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

Dona M. Kanavy, Shannon M. McNulty, Tamara S. Roman, 2020, American journal of human genetics.

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

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

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.

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus.

J. Lupski, C. Stratakis, C. Carvalho, 2018, Journal of the Endocrine Society.

Passage Number is a Major Contributor to Genomic Structural Variations in Mouse iPSCs

J. Lupski, J. Hanna, O. Reiner, 2014, Stem cells.

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates

J. Lupski, D. Schwartz, J. Akey, 2015, PLoS genetics.

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

A. Breman, C. Shaw, J. Lupski, 2020, Genetics in Medicine.

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.

X-linked Acrogigantism ( X-LAG ) Syndrome : Clinical Profile and Therapeutic Responses

Lim, Jean-François, J. Lupski, 2015 .

X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

J. Lupski, F. Faucz, Jacques Young, 2015, Endocrine-related cancer.

Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral–basilar artery dissection (IVAD)

Zhihong Wu, Yiping Shen, Shuyang Zhang, 2018, Journal of Human Genetics.

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.

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.

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

J. Rosenfeld, S. Lalani, V. Sutton, 2019, American journal of medical genetics. Part A.

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.

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

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

A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay

J. Rosenfeld, K. Schoch, J. Phillips, 2022, Human mutation.

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.

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.

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

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

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

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

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

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

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.

Global transcriptional disturbances underlie

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

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.

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.

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

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

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.

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

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

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.

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 .

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.

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.

Mechanisms for Complex Chromosomal Insertions

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

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.

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

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

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.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

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

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.

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.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

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

Clinical characterization of individuals with the distal 1q21.1 microdeletion

J. Rosenfeld, E. Grigorenko, J. Posey, 2021, American journal of medical genetics. Part A.

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

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

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

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

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients

Yaping Yang, F. Xia, M. Leduc, 2021, Molecular genetics & genomic medicine.

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

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

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.

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

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

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.

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.

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.

Reanalysis of Clinical Exome Sequencing Data.

J. Rosenfeld, E. Zackai, C. Shaw, 2019, The New England journal of medicine.

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.

Analysis of the ABCA4 genomic locus in Stargardt disease.

J. Lupski, P. Gouras, S. Tsang, 2014, Human molecular genetics.

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.

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome

J. Lupski, C. Stratakis, N. Pellegata, 2016, Endocrine.

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.

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

David R. Murdock, Michael F. Wangler, J. Rosenfeld, 2020, American journal of human genetics.

Potocki-Lupski Syndrome

L. Potocki, Bo Yuan, Juanita Neira-Fresneda, 1993 .

Replication of linkage of familial hypobetalipoproteinemia to chromosome 3p in six kindreds.

D. Gerhard, R. Neuman, S. Duan, 2002, Journal of lipid research.

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency.

J. Lupski, F. Baas, R. Badolato, 2020, Blood.

Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia

D. Gerhard, R. Neuman, G. Schonfeld, 2002, Human mutation.

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.

Deforming Polyarthritis in a North Indian Family—Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI)

I. Chinn, A. Rawat, Anit Kaur, 2020, Journal of Clinical Immunology.

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.

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 .

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.

Multi-Omics Data Integration Analysis of an Immune-Related Gene Signature in LGG Patients With Epilepsy

Kun Liu, Hui Cao, Q. Cheng, 2021, Frontiers in Cell and Developmental Biology.

Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3

S. Rosenzweig, S. Nicholas, I. Chinn, 2021, Journal of clinical immunology.