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Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J. Rabin R, et al. Among authors: menzies l. Am J Med Genet A. 2020 Sep;182(9):2037-2048. doi: 10.1002/ajmg.a.61724. Epub 2020 Jul 24. Am J Med Genet A. 2020. PMID: 32710489
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S; Genomics England Research Consortium; Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M; Ponnudas (Prab) Prabhakar; Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA. Ververi A, et al. Among authors: menzies l. Hum Mol Genet. 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. Hum Mol Genet. 2023. PMID: 36067010 Free PMC article.
L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
Accogli A, Goergen S, Izzo G, Mankad K, Krajden Haratz K, Parazzini C, Fahey M, Menzies L, Baptista J, Carpineta L, Tortora D, Fulcheri E, Gaetano Vellone V, Paladini D, Spaccini L, Toto V, Trayers C, Ben Sira L, Reches A, Malinger G, Salpietro V, De Marco P, Srour M, Zara F, Capra V, Rossi A, Severino M. Accogli A, et al. Among authors: menzies l. Ann Clin Transl Neurol. 2021 Oct;8(10):2004-2012. doi: 10.1002/acn3.51448. Epub 2021 Sep 12. Ann Clin Transl Neurol. 2021. PMID: 34510796 Free PMC article.
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates.
MacPherson MJ, Erickson SL, Kopp D, Wen P, Aghanoori MR, Kedia S, Burns KML, Vitobello A, Tran Mau-Them F, Thomas Q, Gold NB, Brucker W, Amlie-Wolf L, Gripp KW, Bodamer O, Faivre L, Muona M, Menzies L, Baptista J, Guegan K, Male A, Wei XC, He G, Long Q, Innes AM, Yang G. MacPherson MJ, et al. Among authors: menzies l. Cell Rep. 2021 Jun 8;35(10):109226. doi: 10.1016/j.celrep.2021.109226. Cell Rep. 2021. PMID: 34107259 Free article.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Neurocognitive endophenotypes of obsessive-compulsive disorder.
Menzies L, Achard S, Chamberlain SR, Fineberg N, Chen CH, del Campo N, Sahakian BJ, Robbins TW, Bullmore E. Menzies L, et al. Brain. 2007 Dec;130(Pt 12):3223-36. doi: 10.1093/brain/awm205. Epub 2007 Sep 13. Brain. 2007. PMID: 17855376
32 results