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Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. Talkowski ME, et al. Among authors: parikh a. Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011. Am J Hum Genet. 2011. PMID: 21981781 Free PMC article.
2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.
Massingham LJ, Nuñez S, Bernstein JA, Gardner DP, Parikh AS, Strovel ET, Quintero-Rivera F; Association of Professors of Human and Medical Genetics Course Directors Special Interest Group Medical Education Core Curriculum Workgroup. Massingham LJ, et al. Among authors: parikh as. Genet Med. 2022 Oct;24(10):2167-2179. doi: 10.1016/j.gim.2022.07.014. Epub 2022 Aug 31. Genet Med. 2022. PMID: 36040446 Free article.
Hepatic Encephalopathy Secondary to Non-cirrhotic Portosystemic Shunt.
Trivedi B, Parikh A, Botros M, Robles A, Laks S, Zuckerman M. Trivedi B, et al. Among authors: parikh a. J Investig Med High Impact Case Rep. 2024 Jan-Dec;12:23247096241258063. doi: 10.1177/23247096241258063. J Investig Med High Impact Case Rep. 2024. PMID: 38828786 Free article.
Modeling epithelial homeostasis and perturbation in three-dimensional human esophageal organoids.
Shimonosono M, Morimoto M, Hirose W, Tomita Y, Matsuura N, Flashner S, Ebadi MS, Okayasu EH, Lee CY, Britton WR, Martin C, Wuertz BR, Parikh AS, Sachdeva UM, Ondrey FG, Atigadda VR, Elmets CA, Abrams JA, Muir AB, Klein-Szanto AJ, Weinberg KI, Momen-Heravi F, Nakagawa H. Shimonosono M, et al. Among authors: parikh as. bioRxiv [Preprint]. 2024 May 22:2024.05.20.595023. doi: 10.1101/2024.05.20.595023. bioRxiv. 2024. PMID: 38826379 Free PMC article. Preprint.
A persistent variant telomere sequence in a human pedigree.
Hinchie AM, Sanford SL, Loughridge KE, Sutton RM, Parikh AH, Gil Silva AA, Sullivan DI, Chun-On P, Morrell MR, McDyer JF, Opresko PL, Alder JK. Hinchie AM, et al. Among authors: parikh ah. Nat Commun. 2024 Jun 1;15(1):4681. doi: 10.1038/s41467-024-49072-9. Nat Commun. 2024. PMID: 38824190 Free PMC article.
1,041 results