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22 results

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Page 1
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
Ansari M, Halachev M, Parry D, Campos JL, D'Souza EN, Barnett C, Wilkie AOM, Barnicoat A, Patel CV, Sukarova-Angelovska E, Girisha KM, Firth HV, Prescott K, Wilson LC, McEntagart M, Davidson R, Lynch SA, Joss S, Holden ST, Lam WK, Sisodiya SM, Green AJ, Poke G, Whiffin N, FitzPatrick DR, Meynert A. Ansari M, et al. Among authors: halachev m. Hum Mutat. 2025 Jan 30;2025:4711663. doi: 10.1155/humu/4711663. eCollection 2025. Hum Mutat. 2025. PMID: 40677927 Free PMC article.
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM, Klaric L, Muckian MD, Johnston K, Drake C, Halachev M, Cowan E, Snadden L, Dean J, Zheng SL, Thami PK, Ware JS, Tzoneva G, Shuldiner AR, Miedzybrodzka Z, Wilson JF. Kerr SM, et al. Among authors: halachev m. Am J Hum Genet. 2025 Apr 3;112(4):793-807. doi: 10.1016/j.ajhg.2025.02.018. Epub 2025 Mar 14. Am J Hum Genet. 2025. PMID: 40088892 Free PMC article.
Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.
Black HA, de Proce SM, Campos JL, Meynert A, Halachev M, Marsh JA, Hirst RA, O'Callaghan C, Shoemark A, Toddie-Moore D; Scottish Genomes Partnership; Santoyo-Lopez J, Murray J, Macleod K, Urquhart DS, Unger S, Aitman TJ, Mill P. Black HA, et al. Among authors: halachev m. Pediatr Pulmonol. 2024 Dec;59(12):3322-3332. doi: 10.1002/ppul.27200. Epub 2024 Aug 8. Pediatr Pulmonol. 2024. PMID: 39115449 Free PMC article.
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Hall HN, Parry D, Halachev M, Williamson KA, Donnelly K, Campos Parada J, Bhatia S, Joseph J, Holden S, Prescott TE, Bitoun P, Kirk EP, Newbury-Ecob R, Lachlan K, Bernar J, van Heyningen V, FitzPatrick DR, Meynert A. Hall HN, et al. Among authors: halachev m. J Med Genet. 2024 Feb 21;61(3):250-261. doi: 10.1136/jmg-2023-109181. J Med Genet. 2024. PMID: 38050128 Free PMC article.
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.
Bengani H, Grozeva D, Moyon L, Bhatia S, Louros SR, Hope J, Jackson A, Prendergast JG, Owen LJ, Naville M, Rainger J, Grimes G, Halachev M, Murphy LC, Spasic-Boskovic O, van Heyningen V, Kind P, Abbott CM, Osterweil E, Raymond FL, Roest Crollius H, FitzPatrick DR. Bengani H, et al. Among authors: halachev m. PLoS One. 2021 Aug 13;16(8):e0256181. doi: 10.1371/journal.pone.0256181. eCollection 2021. PLoS One. 2021. PMID: 34388204 Free PMC article.
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, Splitt M, McKee S, Németh AH, Scott RH, Wright CF, Marsh JA, Hurles ME, FitzPatrick DR; DDD Study. Aitken S, et al. Among authors: halachev m. Am J Hum Genet. 2019 Nov 7;105(5):933-946. doi: 10.1016/j.ajhg.2019.09.015. Epub 2019 Oct 10. Am J Hum Genet. 2019. PMID: 31607427 Free PMC article.
22 results