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JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ...
The American Journal of Human Genetics 97 (2), 199-215, 2015
|A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases|
S Yamamoto, M Jaiswal, WL Charng, T Gambin, E Karaca, G Mirzaa, ...
Cell 159 (1), 200-214, 2014
|Detection of clinically relevant exonic copy‐number changes by array CGH|
PM Boone, CA Bacino, CA Shaw, PA Eng, PM Hixson, AN Pursley, ...
Human mutation 31 (12), 1326-1342, 2010
|COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis|
LB Watkin, B Jessen, W Wiszniewski, TJ Vece, M Jan, Y Sha, M Thamsen, ...
Nature genetics 47 (6), 654-660, 2015
|Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy|
C Gonzaga-Jauregui, T Harel, T Gambin, M Kousi, LB Griffin, ...
Cell reports 12 (7), 1169-1183, 2015
|Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease|
E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ...
Neuron 88 (3), 499-513, 2015
|Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function|
E Karaca, S Weitzer, D Pehlivan, H Shiraishi, T Gogakos, T Hanada, ...
Cell 157 (3), 636-650, 2014
|Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders|
A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ...
Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017
|Molecular diagnostic experience of whole-exome sequencing in adult patients|
JE Posey, JA Rosenfeld, RA James, M Bainbridge, Z Niu, X Wang, S Dhar, ...
Genetics in Medicine 18 (7), 678-685, 2016
|Lessons learned from additional research analyses of unsolved clinical exome cases|
MK Eldomery, Z Coban-Akdemir, T Harel, JA Rosenfeld, T Gambin, ...
Genome medicine 9 (1), 1-15, 2017
|NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits|
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Genome research 23 (9), 1395-1409, 2013
|PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia|
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The American Journal of Human Genetics 95 (1), 96-107, 2014
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J Wiszniewska, W Bi, C Shaw, P Stankiewicz, SHL Kang, AN Pursley, ...
European Journal of Human Genetics 22 (1), 79-87, 2014
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B Yuan, D Pehlivan, E Karaca, N Patel, WL Charng, T Gambin, ...
The Journal of clinical investigation 125 (2), 636-651, 2015
|Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE|
PBS Celestino-Soper, CA Shaw, SJ Sanders, J Li, MT Murtha, ...
Human molecular genetics 20 (22), 4360-4370, 2011
|Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome|
MF Wangler, C Gonzaga-Jauregui, T Gambin, S Penney, T Moss, ...
PLoS Genet 10 (3), e1004258, 2014
|Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome|
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PLoS Genet 8 (5), e1002692, 2012
|DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome|
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The American Journal of Human Genetics 96 (4), 612-622, 2015
|Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort|
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Nucleic acids research 45 (4), 1633-1648, 2017
|Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles|
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The American Journal of Human Genetics 103 (2), 171-187, 2018