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Page 1
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.
Halachev M, Meynert A, Taylor MS, Vitart V, Kerr SM, Klaric L; S. G. P. Consortium; Aitman TJ, Haley CS, Prendergast JG, Pugh C, Hume DA, Harris SE, Liewald DC, Deary IJ, Semple CA, Wilson JF. Halachev M, et al. PLoS Genet. 2019 Nov 25;15(11):e1008480. doi: 10.1371/journal.pgen.1008480. eCollection 2019 Nov. PLoS Genet. 2019. PMID: 31765389 Free PMC article.
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Rainger J, Williamson KA, Soares DC, Truch J, Kurian D, Gillessen-Kaesbach G, Seawright A, Prendergast J, Halachev M, Wheeler A, McTeir L, Gill AC, van Heyningen V, Davey MG; UK10K; FitzPatrick DR. Rainger J, et al. Among authors: halachev m. Hum Mutat. 2017 Aug;38(8):942-946. doi: 10.1002/humu.23246. Epub 2017 Jun 6. Hum Mutat. 2017. PMID: 28493397 Free PMC article.
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, Falkous G, Williams D, Cox P, Meynert A, Raymond ES, Morrison H, Brown S, Allan E, Aligianis I, Jackson AP, Ramsahoye BH, von Kriegsheim A, Taylor RW, Finch AJ, FitzPatrick DR. Handley MT, et al. Among authors: halachev m. PLoS Genet. 2019 Mar 11;15(3):e1007605. doi: 10.1371/journal.pgen.1007605. eCollection 2019 Mar. PLoS Genet. 2019. PMID: 30856165 Free PMC article.
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
Thormann A, Halachev M, McLaren W, Moore DJ, Svinti V, Campbell A, Kerr SM, Tischkowitz M, Hunt SE, Dunlop MG, Hurles ME, Wright CF, Firth HV, Cunningham F, FitzPatrick DR. Thormann A, et al. Among authors: halachev m. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3. Nat Commun. 2019. PMID: 31147538 Free PMC article.
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.
Kerr SM, Klaric L, Halachev M, Hayward C, Boutin TS, Meynert AM, Semple CA, Tuiskula AM, Swan H, Santoyo-Lopez J, Vitart V, Haley C, Dean J, Miedzybrodzka Z, Aitman TJ, Wilson JF. Kerr SM, et al. Among authors: halachev m. Sci Rep. 2019 Jul 29;9(1):10964. doi: 10.1038/s41598-019-47436-6. Sci Rep. 2019. PMID: 31358886 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.
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.
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.
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.
19 results