J. Chong

发表

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2019, bioRxiv.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

A. Philippakis, M. Hurles, X. Estivill, 2017, 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.

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

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

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes

D. Nickerson, M. Bamshad, L. Hudgins, 2018, Human mutation.

The mutational constraint spectrum quantified from variation in 141,456 humans

Irina M. Armean, Judy H. Cho, Y. J. Kim, 2019, Nature.

The mutational constraint spectrum quantified from variation in 141,456 humans

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature.

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

Seema M Jamal, D. Nickerson, M. Bamshad, 2014, American journal of human genetics.

Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome

Zachary A. Szpiech, Zhaohui S. Qin, Francisco M. De La Vega, 2017, Scientific Reports.

Homozygous Founder Mutation in Desmocollin-2 (DSC2) Causes Arrhythmogenic Cardiomyopathy in the Hutterite Population

C. Ober, H. Duff, J. Chong, 2013, Circulation. Cardiovascular genetics.

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

Karynne E. Patterson, Danny E. Miller, H. Mefford, 2020, bioRxiv.

Disclosure of Genetic Research Results to Members of a Founder Population

C. Ober, Soma Das, J. Chong, 2014, Journal of Genetic Counseling.

Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis

R. Gibson, M. Bamshad, M. Emond, 2018, Annals of the American Thoracic Society.

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

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

Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry

Zachary A. Szpiech, Michael Bamshad, Ingo Ruczinski, 2016, Nature Communications.

Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

K. Gripp, J. Chong, C. Curry, 2014, American journal of medical genetics. Part A.

Beyond the exome: what’s next in diagnostic testing for Mendelian conditions

M. Wheeler, S. Montgomery, M. Bamshad, 2023, ArXiv.

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

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

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

M. Bamshad, V. Caputo, A. Pizzuti, 2016, American journal of human genetics.

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

M. Bamshad, V. Caputo, A. Pizzuti, 2016, bioRxiv.

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

D. Nickerson, E. Ashley, J. Priest, 2017, bioRxiv.

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.

Lawrence H. Uricchio, M. DePristo, K. Garimella, 2011, Human molecular genetics.

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.

Lawrence H. Uricchio, M. DePristo, K. Garimella, 2011, Human molecular genetics.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

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

Estimating human mutation rate using autozygosity in a founder population

Jay Shendure, Evan E. Eichler, Laura Vives, 2012, Nature Genetics.

Targeted long-read sequencing identifies missing disease-causing variation.

William H. Majoros, Karynne E. Patterson, Timothy E. Reddy, 2021, American journal of human genetics.

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Donna M. Martin, D. Nickerson, M. Bamshad, 2017, Genetics in Medicine.

Accurate Imputation of Rare and Common Variants in a Founder Population From a Small Number of Sequenced Individuals

Jessica X Chong, Carole Ober, Dan L Nicolae, 2012, Genetic epidemiology.

A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome

Zachary A. Szpiech, Zhaohui S. Qin, Francisco M. De La Vega, 2016, Nature Communications.

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

M. Rieder, D. Nickerson, J. Emerson, 2015, PLoS genetics.

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans

D. Nickerson, Joshua D. Smith, M. Bamshad, 2019, Human mutation.

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch‐German) Mennonite and Hutterite patients in North America

C. Ober, R. Hegele, V. Siu, 2012, American journal of medical genetics. Part A.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

J. Shendure, P. Kaplan, C. Haldeman-Englert, 2015, American journal of human genetics.

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Jessica X Chong, Carole Ober, C. Ober, 2012, American journal of human genetics.

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites

C. Ober, J. Chong, Z. Dai, 2011, European Journal of Human Genetics.

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.

M. Bamshad, H. Freeze, J. Chong, 2014, American journal of human genetics.

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2021, Nature.

Mendelian Gene Discovery: Fast and Furious with No End in Sight.

Michael J Bamshad, Deborah A Nickerson, Jessica X Chong, 2019, American journal of human genetics.

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

Gao T. Wang, G. Abecasis, J. Shendure, 2017, Scientific Reports.

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

Emily H Turner, J. Shendure, D. Nickerson, 2013, American journal of human genetics.

Exome-wide rare variant analysis in familial essential tremor.

D. Nickerson, E. Tolosa, M. Bamshad, 2020, Parkinsonism & related disorders.