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The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW; DOOFNL Consortium; Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ. Colbert BM, et al. Among authors: blanton s. Hum Genet. 2024 May;143(5):721-734. doi: 10.1007/s00439-024-02648-3. Epub 2024 Apr 30. Hum Genet. 2024. PMID: 38691166 Free PMC article.
Preimplantation genetic testing for hereditary hearing loss in Chinese population.
Bi Q, Huang S, Wang H, Gao X, Ma M, Han M, Lu S, Kang D, Nourbakhsh A, Yan D, Blanton S, Liu X, Yuan Y, Yao Y, Dai P. Bi Q, et al. Among authors: blanton s. J Assist Reprod Genet. 2023 Jul;40(7):1721-1732. doi: 10.1007/s10815-023-02753-8. Epub 2023 Apr 5. J Assist Reprod Genet. 2023. PMID: 37017887 Free PMC article.
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Peart L, Gonzalez J, Morel Swols D, Duman D, Saridogan T, Ramzan M, Zafeer MF, Liu XZ, Eshraghi AA, Hoffer ME, Angeli SI, Bademci G, Blanton S, Smith C, Telischi FF, Tekin M. Peart L, et al. Among authors: blanton s. Hum Genomics. 2023 Nov 24;17(1):103. doi: 10.1186/s40246-023-00556-7. Hum Genomics. 2023. PMID: 37996878 Free PMC article.
Identifying X-chromosome variants associated with age-related macular degeneration.
Grunin M, Igo RP Jr, Song YE, Blanton SH, Pericak-Vance MA, Haines JL; International Age-related Macular Degeneration Genomics Consortium. Grunin M, et al. Among authors: blanton sh. Hum Mol Genet. 2024 Sep 26:ddae141. doi: 10.1093/hmg/ddae141. Online ahead of print. Hum Mol Genet. 2024. PMID: 39324238
295 results