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Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.
Singh S, Penney C, Griffin A, Woodland G, Werdyani S, Benteau TA, Abdelfatah N, Squires J, King B, Houston J, Dyer MJ, Roslin NM, Vincent D, Marquis P, O'Rielly DD, Hodgkinson K, Burt T, Baker A, Stanton SG, Young TL. Singh S, et al. Among authors: hodgkinson k. Eur J Hum Genet. 2023 Jul;31(7):815-823. doi: 10.1038/s41431-023-01358-0. Epub 2023 Apr 19. Eur J Hum Genet. 2023. PMID: 37072551 Free PMC article.
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.
Abdelfatah N, Mostafa AA, French CR, Doucette LP, Penney C, Lucas MB, Griffin A, Booth V, Rowley C, Besaw JE, Tranebjærg L, Rendtorff ND, Hodgkinson KA, Little LA, Agrawal S, Parnes L, Batten T, Moore S, Hu P, Pater JA, Houston J, Galutira D, Benteau T, MacDonald C, French D, O'Rielly DD, Stanton SG, Young TL. Abdelfatah N, et al. Among authors: hodgkinson ka. Hum Genet. 2022 Apr;141(3-4):965-979. doi: 10.1007/s00439-021-02381-1. Epub 2021 Oct 11. Hum Genet. 2022. PMID: 34633540 Free PMC article.
Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?
Brothers C, Etchegary H, Curtis F, Simmonds C, Houston J, Young TL, Pullman D, Mariathas HH, Connors S, Hodgkinson K. Brothers C, et al. Among authors: hodgkinson k. Public Health Genomics. 2021;24(5-6):253-260. doi: 10.1159/000517265. Epub 2021 Sep 9. Public Health Genomics. 2021. PMID: 34500452 Free article.
Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family.
Tung M, Van Petegem F, Lauson S, Collier A, Hodgkinson K, Fernandez B, Connors S, Leather R, Sanatani S, Arbour L. Tung M, et al. Among authors: hodgkinson k. Mol Genet Genomic Med. 2020 Apr;8(4):e1151. doi: 10.1002/mgg3.1151. Epub 2020 Jan 28. Mol Genet Genomic Med. 2020. PMID: 31994352 Free PMC article.
All-cause mortality and survival in adults with 22q11.2 deletion syndrome.
Van L, Heung T, Graffi J, Ng E, Malecki S, Van Mil S, Boot E, Corral M, Chow EWC, Hodgkinson KA, Silversides C, Bassett AS. Van L, et al. Among authors: hodgkinson ka. Genet Med. 2019 Oct;21(10):2328-2335. doi: 10.1038/s41436-019-0509-y. Epub 2019 Apr 5. Genet Med. 2019. PMID: 30948858 Free PMC article.
89 results