| 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 | 736 | 2015 |
| Resolution of disease phenotypes resulting from multilocus genomic variation JE Posey, T Harel, P Liu, JA Rosenfeld, RA James, ZH Coban Akdemir, ... New England Journal of Medicine 376 (1), 21-31, 2017 | 635 | 2017 |
| 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 | 290 | 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 | 276 | 2017 |
| 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 | 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 | 221 | 2016 |
| 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 |
| Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis IK Chinn, OS Eckstein, EC Peckham-Gregory, BR Goldberg, LR Forbes, ... Blood, The Journal of the American Society of Hematology 132 (1), 89-100, 2018 | 174 | 2018 |
| 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 | 173 | 2018 |
| 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 | 170 | 2016 |
| A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function MT Lam, S Coppola, OHF Krumbach, G Prencipe, A Insalaco, C Cifaldi, ... Journal of Experimental Medicine 216 (12), 2778-2799, 2019 | 161 | 2019 |
| Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome MC Poli, F Ebstein, SK Nicholas, MM de Guzman, LR Forbes, IK Chinn, ... The American Journal of Human Genetics 102 (6), 1126-1142, 2018 | 146 | 2018 |
| 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 | 117 | 2016 |
| 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 | 116 | 2018 |
| Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort T Gambin, ZC Akdemir, B Yuan, S Gu, T Chiang, C Carvalho, C Shaw, ... Nucleic acids research 45 (4), 1633-1648, 2017 | 116 | 2017 |
| WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ... The American Journal of Human Genetics 102 (1), 27-43, 2018 | 111 | 2018 |
| p53 regulates a mitotic transcription program and determines ploidy in normal mouse liver S Kurinna, SA Stratton, Z Coban, JM Schumacher, M Grompe, ... Hepatology 57 (5), 2004-2013, 2013 | 105 | 2013 |
| Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate WL Charng, E Karaca, Z Coban Akdemir, T Gambin, MM Atik, S Gu, ... BMC medical genomics 9, 1-14, 2016 | 104 | 2016 |
| Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin Y Bayram, E Karaca, ZC Akdemir, EO Yilmaz, GA Tayfun, H Aydin, ... The Journal of clinical investigation 126 (2), 762-778, 2016 | 104 | 2016 |
| Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene MR Bekheirnia, N Bekheirnia, MN Bainbridge, S Gu, ZH Coban Akdemir, ... Genetics in Medicine 19 (4), 412-420, 2017 | 99 | 2017 |
James LupskiBaylor College of MedicineVerified email at bcm.edu
