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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: o rielly dd. 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.
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL. Pater JA, et al. Among authors: o rielly dd. Hum Genet. 2022 Apr;141(3-4):431-444. doi: 10.1007/s00439-022-02444-x. Epub 2022 Mar 12. Hum Genet. 2022. PMID: 35278131 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: o rielly dd. 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.
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer.
Grafodatskaya D, O'Rielly DD, Bedard K, Butcher DT, Howlett CJ, Lytwyn A, McCready E, Parboosingh J, Spriggs EL, Vaags AK, Stockley TL. Grafodatskaya D, et al. Among authors: o rielly dd. J Med Genet. 2022 Aug;59(8):727-736. doi: 10.1136/jmedgenet-2021-108238. Epub 2022 Apr 7. J Med Genet. 2022. PMID: 35393334 Free PMC article. Review.
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
Akter H, Hossain MS, Dity NJ, Rahaman MA, Furkan Uddin KM, Nassir N, Begum G, Hameid RA, Islam MS, Tusty TA, Basiruzzaman M, Sarkar S, Islam M, Jahan S, Lim ET, Woodbury-Smith M, Stavropoulos DJ, O'Rielly DD, Berdeiv BK, Nurun Nabi AHM, Ahsan MN, Scherer SW, Uddin M. Akter H, et al. Among authors: o rielly dd. NPJ Genom Med. 2021 Feb 16;6(1):14. doi: 10.1038/s41525-021-00173-0. NPJ Genom Med. 2021. PMID: 33594065 Free PMC article.
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