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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 | 193 | 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 | 175 | 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 | 137 | 2016 |
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| 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 | 113 | 2017 |
| 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 | 109 | 2021 |
| 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 | 106 | 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 | 92 | 2016 |
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| 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 | 84 | 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 | 82 | 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 | 76 | 2016 |
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| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 64 | 2023 |
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| 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 | 55 | 2017 |
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