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Page 1
Perils of predictive testing for unaffected people from motor neuron disease families with no identified causal gene.
Mcneill A, Douglas AGL, Macleod R, Lahiri N; UK PREDICTIVE NEUROGENETICS TESTING CONSORTIUM. Mcneill A, et al. Among authors: lahiri n. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Dec 9:1-2. doi: 10.1080/21678421.2024.2438153. Online ahead of print. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 39648759 No abstract available.
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.
Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T, Dolzhenko E, Martin-Trujillo A, Gies SJ, Altman G, Rocca C, Barbosa M, Jain M, Lahiri N, Lachlan K, Houlden H, Paten B; Genomics England Research Consortium; Project MinE ALS Sequencing Consortium; Veldink J, Tucci A, Sharp AJ. Jadhav B, et al. Among authors: lahiri n. Nat Genet. 2024 Nov;56(11):2322-2332. doi: 10.1038/s41588-024-01917-1. Epub 2024 Sep 23. Nat Genet. 2024. PMID: 39313615
Genetic testing in dementia.
O'Connor A, Ryan NS, Belder CRS, Lynch DS, Lahiri N, Houlden H, Rohrer JD, Fox NC, O'Dowd S. O'Connor A, et al. Among authors: lahiri n. Pract Neurol. 2024 Sep 17:pn-2024-004241. doi: 10.1136/pn-2024-004241. Online ahead of print. Pract Neurol. 2024. PMID: 39288984
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Ibnouf Hussein R, Lindsay SJ, Lalloo F, Banos-Pinero B, Evans D, Mallin L, Waite A, Evans J, Newman A, Allen Z, Perez-Becerril C, Ryan G, Hart R, Taylor J, Bedenham T, Clement E, Blair E, Hay E, Forzano F, Higgs J, Canham N, Majumdar A, McEntagart M, Lahiri N, Stewart H, Smithson S, Calpena E, Jackson A, Banka S, Titheradge H, McGowan R, Rankin J, Shaw-Smith C, Evans DG, Burghel GJ, Smith MJ, Anderson E, Madhu R, Firth H, Ellard S, Brennan P, Anderson C, Taupin D, Rogers MT, Cook JA, Durkie M, East JE, Fowler D, Wilson L, Igbokwe R, Gardham A, Tomlinson I, Baralle D, Uhlig HH, Taylor JC. Pagnamenta AT, et al. Among authors: lahiri n. Am J Hum Genet. 2024 Jun 6;111(6):1140-1164. doi: 10.1016/j.ajhg.2024.04.018. Epub 2024 May 21. Am J Hum Genet. 2024. PMID: 38776926 Free PMC article.
97 results