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| MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ... The American Journal of Human Genetics 100 (6), 843-853, 2017 | 177 | 2017 |
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| A recurrent p. Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development A Bashamboo, PA Donohoue, E Vilain, S Rojo, P Calvel, SN Seneviratne, ... Human molecular genetics 25 (16), 3446-3453, 2016 | 122 | 2016 |
| A syndromic neurodevelopmental disorder caused by de novo variants in EBF3 HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ... The American Journal of Human Genetics 100 (1), 128-137, 2017 | 114 | 2017 |
| Exposure to the BPA-substitute bisphenol S causes unique alterations of germline function Y Chen, L Shu, Z Qiu, DY Lee, SJ Settle, S Que Hee, D Telesca, X Yang, ... PLoS genetics 12 (7), e1006223, 2016 | 107 | 2016 |
| IRF2BPL is associated with neurological phenotypes PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ... The American Journal of Human Genetics 103 (2), 245-260, 2018 | 91 | 2018 |
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| A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative V Shashi, K Schoch, R Spillmann, H Cope, QKG Tan, N Walley, L Pena, ... Genetics in Medicine 21 (1), 161-172, 2019 | 76 | 2019 |
| A C. elegans Screening Platform for the Rapid Assessment of Chemical Disruption of Germline Function P Allard, NC Kleinstreuer, TB Knudsen, MP Colaiácovo Environmental health perspectives 121 (6), 717-724, 2013 | 76 | 2013 |
| Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ... The American Journal of Human Genetics 102 (3), 494-504, 2018 | 72 | 2018 |
| Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, ... The American Journal of Human Genetics 104 (1), 164-178, 2019 | 70 | 2019 |
| De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype V Shashi, LDM Pena, K Kim, B Burton, M Hempel, K Schoch, ... The American Journal of Human Genetics 99 (4), 991-999, 2016 | 68 | 2016 |
| Characterization of a novel ectodermal signaling center regulating Tbx2 and Shh in the vertebrate limb S Nissim, P Allard, A Bandyopadhyay, BD Harfe, CJ Tabin Developmental biology 304 (1), 9-21, 2007 | 65 | 2007 |
| The memory of environmental chemical exposure in C. elegans is dependent on the jumonji demethylases jmjd-2 and jmjd-3/utx-1 J Camacho, L Truong, Z Kurt, YW Chen, M Morselli, G Gutierrez, ... Cell reports 23 (8), 2392-2404, 2018 | 63 | 2018 |
| Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ... The American Journal of Human Genetics 104 (6), 1127-1138, 2019 | 60 | 2019 |
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YEN-WEI CHENPhD student in molecular toxicology, University of California, Los AngelesVerified email at g.ucla.edu
