Publications

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Filters: Author is Li, He and Keyword is Phenotype  [Clear All Filters]
Journal Article
Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Akdemir ZHCoban, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM, Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, V Sutton R, Lupski JR, Boerwinkle E, Gibbs RA. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 ;105(5):974-986.
Sisoudiya SDushyant, Mishra P, Li H, Schraw JM, Scheurer ME, Salvi S, Doddapaneni H, Muzny DM, Mitchell D, Taylor O, Sabo A, Lupo PJ, Plon SE. Identification of USP9X as a leukemia susceptibility gene. Blood Adv. 2023 ;7(16):4563-4575.
Khayat MM, Li H, Chander V, Hu J, Hansen AW, Li S, Traynelis J, Shen H, Weissenberger G, Stossi F, Johnson HL, Lupski JR, Posey JE, Sabo A, Meng Q, Murdock DR, Wangler M, Gibbs RA. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat. 2021 ;42(5):577-591.
Montenegro-Garreaud X, Hansen AW, Khayat MM, Chander V, Grochowski CM, Jiang Y, Li H, Mitani T, Kessler E, Jayaseelan J, Shen H, Gezdirici A, Pehlivan D, Meng Q, Rosenfeld JA, Jhangiani SN, Madan-Khetarpal S, Scott DA, Abarca-Barriga H, Trubnykova M, Gingras M-C, Muzny DM, Posey JE, Liu P, Lupski JR, Gibbs RA. Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 ;41(12):2094-2104.