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A cryptic microdeletion del(12)(p11.21p11.23) within an 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: layman lc. Sci Rep. 2023 Aug 10;13(1):12984. doi: 10.1038/s41598-023-40037-4. Sci Rep. 2023. PMID: 37563198 Free PMC article.
Unexplained Female Infertility Associated with Genetic Disease Variants.
Dougherty MP, Poch AM, Chorich LP, Hawkins ZA, Xu H, Roman RA, Liu H, Brakta S, Taylor HS, Knight J, Kim HG, Diamond MP, Layman LC. Dougherty MP, et al. Among authors: layman lc. N Engl J Med. 2023 Mar 16;388(11):1055-1056. doi: 10.1056/NEJMc2211539. N Engl J Med. 2023. PMID: 36920765 Free PMC article. No abstract available.
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: layman lc. Res Sq [Preprint]. 2023 Mar 27:rs.3.rs-2572736. doi: 10.21203/rs.3.rs-2572736/v1. Res Sq. 2023. Update in: Sci Rep. 2023 Aug 10;13(1):12984. doi: 10.1038/s41598-023-40037-4 PMID: 37034680 Free PMC article. Updated. Preprint.
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.
Ghasemi MR, Sadeghi H, Hashemi-Gorji F, Mirfakhraie R, Gupta V, Ben-Mahmoud A, Bagheri S, Razjouyan K, Salehpour S, Tonekaboni SH, Dianatpour M, Omrani D, Jang MH, Layman LC, Miryounesi M, Kim HG. Ghasemi MR, et al. Among authors: layman lc. BMC Med Genomics. 2024 Aug 5;17(1):196. doi: 10.1186/s12920-024-01969-6. BMC Med Genomics. 2024. PMID: 39103847 Free PMC article.
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Ghasemi MR, Fateh ST, Ben-Mahmoud A, Gupta V, Stühn LG, Lesca G, Chatron N, Platzer K, Edery P, Sadeghi H, Isidor B, Cogné B, Schulz HL, Krauspe-Stübecke I, Periyasamy R, Nampoothiri S, Mirfakhraie R, Alijanpour S, Syrbe S, Pfeifer U, Spranger S, Grundmann-Hauser K, Haack TB, Papadopoulou MT, da Silva Gonçalves T, Panagiotakaki E, Arzimanoglou A, Tonekaboni SH, Rossi M, Korenke GC, Lacassie Y, Jang MH, Layman LC, Miryounesi M, Kim HG. Ghasemi MR, et al. Among authors: layman lc. Am J Med Genet A. 2024 Dec 20:e63963. doi: 10.1002/ajmg.a.63963. Online ahead of print. Am J Med Genet A. 2024. PMID: 39707601
130 results