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| Germline cancer predisposition variants in pediatric rhabdomyosarcoma: a report from the children’s oncology group H Li, SD Sisoudiya, BA Martin-Giacalone, MM Khayat, S Dugan-Perez, ... JNCI: Journal of the National Cancer Institute 113 (7), 875-883, 2021 | 65 | 2021 |
| 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 |
| 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 |
| Exome variant discrepancies due to reference-genome differences H Li, M Dawood, MM Khayat, JR Farek, SN Jhangiani, ZM Khan, T Mitani, ... The American Journal of Human Genetics 108 (7), 1239-1250, 2021 | 41 | 2021 |
| A genocentric approach to discovery of Mendelian disorders AW Hansen, M Murugan, H Li, MM Khayat, L Wang, J Rosenfeld, ... The American Journal of Human Genetics 105 (5), 974-986, 2019 | 34 | 2019 |
| A universal next-generation sequencing protocol to generate noninfectious barcoded cDNA libraries from high-containment RNA viruses LA Moser, L Ramirez-Carvajal, V Puri, SJ Pauszek, K Matthews, KA Dilley, ... MSystems 1 (3), e00039-15, 2016 | 33 | 2016 |
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| Xia–Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition DR Murdock, Y Jiang, M Wangler, MM Khayat, A Sabo, J Juusola, ... Molecular Case Studies 5 (3), a003608, 2019 | 20 | 2019 |
| Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome MM Khayat, H Li, V Chander, J Hu, AW Hansen, S Li, J Traynelis, H Shen, ... Human mutation 42 (5), 577-591, 2021 | 19 | 2021 |
| Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation AW Hansen, P Arora, MM Khayat, LJ Smith, AM Lewis, LZ Rossetti, ... Human Genetics and Genomics Advances 2 (1), 2021 | 16 | 2021 |
| Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases X Montenegro‐Garreaud, AW Hansen, MM Khayat, V Chander, ... Human mutation 41 (12), 2094-2104, 2020 | 9 | 2020 |
| AHDC1 missense mutations in Xia-Gibbs syndrome MM Khayat, J Hu, Y Jiang, H Li, V Chander, M Dawood, AW Hansen, S Li, ... Human Genetics and Genomics Advances 2 (4), 2021 | 8 | 2021 |
| Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young M Tosur, C Soler‐Alfonso, KM Chan, MM Khayat, SN Jhangiani, Q Meng, ... Pediatric diabetes 22 (7), 960-968, 2021 | 7 | 2021 |
| Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism V Chander, M Mahmoud, J Hu, Z Dardas, CM Grochowski, M Dawood, ... Human mutation 43 (12), 2033-2053, 2022 | 5 | 2022 |
| An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates AM Mc Cartney, M Mahmoud, M Jochum, DP Agustinho, B Zorman, ... F1000Research 10, 2021 | 5 | 2021 |
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| Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine M Mahmoud, AR Gener, MM Khayat, AC English, A Balaji, A Zhou, ... F1000Research 9 (1141), 1141, 2020 | | 2020 |
