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| 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), 26, 2017 | 224 | 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 | 222 | 2016 |
| Reanalysis of clinical exome sequencing data P Liu, L Meng, EA Normand, F Xia, X Song, A Ghazi, J Rosenfeld, ... New England Journal of Medicine 380 (25), 2478-2480, 2019 | 221 | 2019 |
| Insights into genetics, human biology and disease gleaned from family based genomic studies JE Posey, AH O’Donnell-Luria, JX Chong, T Harel, SN Jhangiani, ... Genetics in Medicine 21 (4), 798-812, 2019 | 185 | 2019 |
| Model organisms facilitate rare disease diagnosis and therapeutic research MF Wangler, S Yamamoto, HT Chao, JE Posey, M Westerfield, ... Genetics 207 (1), 9-27, 2017 | 182 | 2017 |
| 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 | 176 | 2017 |
| Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ... The American Journal of Human Genetics 99 (4), 831-845, 2016 | 171 | 2016 |
| The undiagnosed diseases network: accelerating discovery about health and disease RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ... The American Journal of Human Genetics 100 (2), 185-192, 2017 | 159 | 2017 |
| Phenotypic expansion illuminates multilocus pathogenic variation E Karaca, JE Posey, Z Coban Akdemir, D Pehlivan, T Harel, SN Jhangiani, ... Genetics in Medicine 20 (12), 1528-1537, 2018 | 117 | 2018 |
| 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 |
| Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate WL Charng, E Karaca, ZC Akdemir, T Gambin, MM Atik, S Gu, JE Posey, ... BMC medical genomics 9 (1), 42, 2016 | 105 | 2016 |
| Genome sequencing and implications for rare disorders JE Posey Orphanet journal of rare diseases 14 (1), 153, 2019 | 101 | 2019 |
| POGZ truncating alleles cause syndromic intellectual disability J White, CR Beck, T Harel, JE Posey, SN Jhangiani, S Tang, KD Farwell, ... Genome medicine 8 (1), 3, 2016 | 95 | 2016 |
| The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance D Pehlivan, Y Bayram, N Gunes, ZC Akdemir, A Shukla, T Bierhals, ... The American Journal of Human Genetics 105 (1), 132-150, 2019 | 84 | 2019 |
| De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder D Lessel, C Schob, S Küry, MRF Reijnders, T Harel, MK Eldomery, ... The American Journal of Human Genetics 101 (5), 716-724, 2017 | 83 | 2017 |
| 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 |
| Phenotypic expansion in DDX3X – a common cause of intellectual disability in females X Wang, JE Posey, JA Rosenfeld, CA Bacino, F Scaglia, LD Immken, ... Annals of clinical and translational neurology 5 (10), 1277-1285, 2018 | 73 | 2018 |
| 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 |
| A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders KJ Ngo, JE Rexach, H Lee, LE Petty, S Perlman, JM Valera, JL Deignan, ... Human mutation 41 (2), 487-501, 2020 | 71 | 2020 |
