| Exome sequencing for the diagnosis of 46, XY disorders of sex development RM Baxter, VA Arboleda, H Lee, H Barseghyan, MP Adam, PY Fechner, ... The Journal of Clinical Endocrinology & Metabolism 100 (2), E333-E344, 2015 | 229 | 2015 |
| 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 | 180 | 2017 |
| 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 |
| 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 | 124 | 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 | 115 | 2017 |
| Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis H Barseghyan, W Tang, RT Wang, M Almalvez, E Segura, MS Bramble, ... Genome medicine 9, 1-11, 2017 | 107 | 2017 |
| 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 | 94 | 2018 |
| A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing MS Bramble, EH Goldstein, A Lipson, T Ngun, A Eskin, JE Gosschalk, ... Human Reproduction 31 (4), 905-914, 2016 | 88 | 2016 |
| Optical genome mapping as a next-generation cytogenomic tool for detection of structural and copy number variations for prenatal genomic analyses NS Sahajpal, H Barseghyan, R Kolhe, A Hastie, A Chaubey Genes 12 (3), 398, 2021 | 84 | 2021 |
| 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 | 80 | 2019 |
| 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 | 73 | 2019 |
| 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 | 73 | 2018 |
| 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 | 69 | 2016 |
| Genetics of disorders of sex development: the DSD-TRN experience EC Délot, JC Papp, M Fox, W Grody, H Lee, E Vilain, C Keegan, ... Endocrinology and Metabolism Clinics 46 (2), 519-537, 2017 | 63 | 2017 |
| 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 | 61 | 2019 |
| MAP3K1‐related gonadal dysgenesis: Six new cases and review of the literature A Granados, VI Alaniz, L Mohnach, H Barseghyan, E Vilain, H Ostrer, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017 | 51 | 2017 |
| Long-read single-molecule maps of the functional methylome H Sharim, A Grunwald, T Gabrieli, Y Michaeli, S Margalit, D Torchinsky, ... Genome research 29 (4), 646-656, 2019 | 50 | 2019 |
| Sex-specific effects of testosterone on the sexually dimorphic transcriptome and epigenome of embryonic neural stem/progenitor cells MS Bramble, L Roach, A Lipson, N Vashist, A Eskin, T Ngun, ... Scientific reports 6 (1), 36916, 2016 | 49 | 2016 |
| Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases LDM Pena, YH Jiang, K Schoch, RC Spillmann, N Walley, N Stong, ... Genetics in medicine 20 (4), 464-469, 2018 | 48 | 2018 |
| A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay K Schoch, L Meng, S Szelinger, DR Bearden, A Stray-Pedersen, OL Busk, ... The American Journal of Human Genetics 100 (2), 343-351, 2017 | 48 | 2017 |
