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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: french cr. 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: french cr. 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.
The Axenfeld-Rieger Syndrome Gene FOXC1 Contributes to Left-Right Patterning.
Chrystal PW, French CR, Jean F, Havrylov S, van Baarle S, Peturson AM, Xu P, Crump JG, Pilgrim DB, Lehmann OJ, Waskiewicz AJ. Chrystal PW, et al. Among authors: french cr. Genes (Basel). 2021 Jan 26;12(2):170. doi: 10.3390/genes12020170. Genes (Basel). 2021. PMID: 33530637 Free PMC article.
foxc1 is required for embryonic head vascular smooth muscle differentiation in zebrafish.
Whitesell TR, Chrystal PW, Ryu JR, Munsie N, Grosse A, French CR, Workentine ML, Li R, Zhu LJ, Waskiewicz A, Lehmann OJ, Lawson ND, Childs SJ. Whitesell TR, et al. Among authors: french cr. Dev Biol. 2019 Sep 1;453(1):34-47. doi: 10.1016/j.ydbio.2019.06.005. Epub 2019 Jun 11. Dev Biol. 2019. PMID: 31199900 Free article.
49 results