| Whole-genome sequencing for optimized patient management MN Bainbridge, W Wiszniewski, DR Murdock, J Friedman, ... Science translational medicine 3 (87), 87re3-87re3, 2011 | 345 | 2011 |
| Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome PM Campeau, JC Kim, JT Lu, JA Schwartzentruber, OA Abdul-Rahman, ... The American Journal of Human Genetics 90 (2), 282-289, 2012 | 137 | 2012 |
| Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing DR Murdock, H Dai, LC Burrage, JA Rosenfeld, S Ketkar, MF Müller, ... The Journal of clinical investigation 131 (1), 2021 | 112 | 2021 |
| Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome V Béziat, SJ Tavernier, YH Chen, CS Ma, M Materna, A Laurence, J Staal, ... Journal of Experimental Medicine 217 (6), 2020 | 105 | 2020 |
| Harmonizing clinical sequencing and interpretation for the eMERGE III network H Zouk, E Venner, NJ Lennon, DM Muzny, D Abrams, S Adunyah, ... The American Journal of Human Genetics 105 (3), 588-605, 2019 | 93 | 2019 |
| Combining optical tweezers and patch clamp for studies of cell membrane electromechanics F Qian, S Ermilov, D Murdock, WE Brownell, B Anvari Review of Scientific Instruments 75 (9), 2937-2942, 2004 | 75 | 2004 |
| Whole‐exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria DR Murdock, GD Clark, MN Bainbridge, I Newsham, YQ Wu, DM Muzny, ... American journal of medical genetics Part A 155 (9), 2071-2077, 2011 | 70 | 2011 |
| Best practices for the interpretation and reporting of clinical whole genome sequencing CA Austin-Tse, V Jobanputra, DL Perry, D Bick, RJ Taft, E Venner, ... NPJ genomic medicine 7 (1), 27, 2022 | 67 | 2022 |
| 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 |
| Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region MK Kelly, M Park, I Mihalek, A Rochtus, M Gramm, E Pérez‐Palma, ... Epilepsia 60 (3), 406-418, 2019 | 60 | 2019 |
| Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN‐related epilepsy L Fleming, M Lemmon, N Beck, M Johnson, W Mu, D Murdock, J Bodurtha, ... American Journal of Medical Genetics Part A 170 (1), 77-86, 2016 | 55 | 2016 |
| Cohesin complex-associated holoprosencephaly P Kruszka, SI Berger, V Casa, MR Dekker, J Gaesser, K Weiss, ... Brain 142 (9), 2631-2643, 2019 | 51 | 2019 |
| De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia O Kanca, JC Andrews, PT Lee, C Patel, SR Braddock, AM Slavotinek, ... The American Journal of Human Genetics 105 (2), 413-424, 2019 | 49 | 2019 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 47 | 2022 |
| Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ... Biological psychiatry 87 (2), 100-112, 2020 | 45 | 2020 |
| The phenotypic spectrum of Xia‐Gibbs syndrome Y Jiang, MF Wangler, AL McGuire, JR Lupski, JE Posey, MM Khayat, ... American journal of medical genetics Part A 176 (6), 1315-1326, 2018 | 45 | 2018 |
| Effects of chlorpromazine on mechanical properties of the outer hair cell plasma membrane DR Murdock, SA Ermilov, AA Spector, AS Popel, WE Brownell, B Anvari Biophysical journal 89 (6), 4090-4095, 2005 | 42 | 2005 |
| De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ... The American Journal of Human Genetics 106 (4), 570-583, 2020 | 41 | 2020 |
| BICRA, a SWI/SNF complex member, is associated with BAF-disorder related phenotypes in humans and model organisms S Barish, TS Barakat, BC Michel, N Mashtalir, JB Phillips, AM Valencia, ... The American Journal of Human Genetics 107 (6), 1096-1112, 2020 | 40 | 2020 |
| De novo pathogenic variants in N-cadherin cause a syndromic neurodevelopmental disorder with corpus callosum, axon, cardiac, ocular, and genital defects A Accogli, S Calabretta, J St-Onge, N Boudrahem-Addour, ... The American Journal of Human Genetics 105 (4), 854-868, 2019 | 36 | 2019 |
