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A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Ben-Mahmoud A, Kishikawa S, Gupta V, Leach NT, Shen Y, Moldovan O, Goel H, Hopper B, Ranguin K, Gruchy N, Maas SM, Lacassie Y, Kim SH, Kim WY, Quade BJ, Morton CC, Kim CH, Layman LC, Kim HG. Ben-Mahmoud A, et al. Among authors: kim hg, kim wy, kim sh, kim ch. Res Sq [Preprint]. 2023 Mar 27:rs.3.rs-2572736. doi: 10.21203/rs.3.rs-2572736/v1. Res Sq. 2023. PMID: 37034680 Free PMC article. Updated. Preprint.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium; Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M. Shepherdson JL, et al. Among authors: kim ch. Am J Hum Genet. 2024 Mar 7;111(3):487-508. doi: 10.1016/j.ajhg.2024.01.007. Epub 2024 Feb 6. Am J Hum Genet. 2024. PMID: 38325380
Complimentary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome.
Lee KH, Stafford AM, Pacheco-Vergara M, Cichewicz K, Canales CP, Seban N, Corea M, Rahbarian D, Bonekamp KE, Gillie GR, Cruz DP, Gill AM, Hwang HE, Uhl KL, Jager TE, Shinawi M, Li X, Obenaus A, Crandall SR, Jeong J, Nord AS, Kim CH, Vogt D. Lee KH, et al. Among authors: kim ch. bioRxiv [Preprint]. 2024 May 26:2024.05.26.595966. doi: 10.1101/2024.05.26.595966. bioRxiv. 2024. PMID: 38826421 Free PMC article. Preprint.
5,765 results