| The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ... The American Journal of Human Genetics 97 (2), 199-215, 2015 | 782 | 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 | 433 | 2014 |
| 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 | 375 | 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 | 328 | 2015 |
| 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 | 308 | 2017 |
| 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 | 280 | 2010 |
| 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 | 255 | 2015 |
| 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, 1-15, 2017 | 244 | 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 | 241 | 2016 |
| 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 | 214 | 2014 |
| Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles Z Coban-Akdemir, JJ White, X Song, SN Jhangiani, JM Fatih, T Gambin, ... The American Journal of Human Genetics 103 (2), 171-187, 2018 | 195 | 2018 |
| Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes B Yuan, D Pehlivan, E Karaca, N Patel, WL Charng, T Gambin, ... The Journal of clinical investigation 125 (2), 636-651, 2015 | 191 | 2015 |
| PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia A Stray-Pedersen, PH Backe, HS Sorte, L Mørkrid, NY Chokshi, ... The American Journal of Human Genetics 95 (1), 96-107, 2014 | 179 | 2014 |
| NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits P Dittwald, T Gambin, P Szafranski, J Li, S Amato, MY Divon, LXR Rojas, ... Genome research 23 (9), 1395-1409, 2013 | 162 | 2013 |
| Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing J Wiszniewska, W Bi, C Shaw, P Stankiewicz, SHL Kang, AN Pursley, ... European Journal of Human Genetics 22 (1), 79-87, 2014 | 155 | 2014 |
| DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome J White, JF Mazzeu, A Hoischen, SN Jhangiani, T Gambin, MC Alcino, ... The American Journal of Human Genetics 96 (4), 612-622, 2015 | 150 | 2015 |
| 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 genetics 10 (3), e1004258, 2014 | 136 | 2014 |
| 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 | 136 | 2011 |
| Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations SR Lalani, P Liu, JA Rosenfeld, LB Watkin, T Chiang, MS Leduc, W Zhu, ... The American Journal of Human Genetics 98 (2), 347-357, 2016 | 132 | 2016 |
| De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder S Küry, T Besnard, F Ebstein, TN Khan, T Gambin, J Douglas, CA Bacino, ... The American Journal of Human Genetics 100 (2), 352-363, 2017 | 131 | 2017 |
Ania GambinInstitute of Informatics University of WarsawAdresse e-mail validée de mimuw.edu.pl