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Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate.
Welzenbach J, Hammond NL, Nikolić M, Thieme F, Ishorst N, Leslie EJ, Weinberg SM, Beaty TH, Marazita ML, Mangold E, Knapp M, Cotney J, Rada-Iglesias A, Dixon MJ, Ludwig KU. Welzenbach J, et al. Among authors: cotney j. HGG Adv. 2021 Jun 8;2(3):100038. doi: 10.1016/j.xhgg.2021.100038. eCollection 2021 Jul 8. HGG Adv. 2021. PMID: 35047836 Free PMC article.
Ube3a unsilencer for the potential treatment of Angelman syndrome.
Vihma H, Li K, Welton-Arndt A, Smith AL, Bettadapur KR, Gilmore RB, Gao E, Cotney JL, Huang HC, Collins JL, Chamberlain SJ, Lee HM, Aubé J, Philpot BD. Vihma H, et al. Among authors: cotney jl. Nat Commun. 2024 Jul 8;15(1):5558. doi: 10.1038/s41467-024-49788-8. Nat Commun. 2024. PMID: 38977672 Free PMC article.
A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.
Bonfante B, Faux P, Navarro N, Mendoza-Revilla J, Dubied M, Montillot C, Wentworth E, Poloni L, Varón-González C, Jones P, Xiong Z, Fuentes-Guajardo M, Palmal S, Chacón-Duque JC, Hurtado M, Villegas V, Granja V, Jaramillo C, Arias W, Barquera R, Everardo-Martínez P, Sánchez-Quinto M, Gómez-Valdés J, Villamil-Ramírez H, Silva de Cerqueira CC, Hünemeier T, Ramallo V, Liu F, Weinberg SM, Shaffer JR, Stergiakouli E, Howe LJ, Hysi PG, Spector TD, Gonzalez-José R, Schüler-Faccini L, Bortolini MC, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Thauvin-Robinet C, Faivre L, Costedoat C, Balding D, Cox T, Kayser M, Duplomb L, Yalcin B, Cotney J, Adhikari K, Ruiz-Linares A. Bonfante B, et al. Among authors: cotney j. Sci Adv. 2021 Feb 5;7(6):eabc6160. doi: 10.1126/sciadv.abc6160. Print 2021 Feb. Sci Adv. 2021. PMID: 33547071 Free PMC article.
Rare genetic variants in SEC24D modify orofacial cleft phenotypes.
Curtis SW, Carlson JC, Beaty TH, Murray JC, Weinberg SM, Marazita ML, Cotney JL, Cutler DJ, Epstein MP, Leslie EJ. Curtis SW, et al. Among authors: cotney jl. medRxiv [Preprint]. 2023 Mar 27:2023.03.24.23287714. doi: 10.1101/2023.03.24.23287714. medRxiv. 2023. PMID: 37034635 Free PMC article. Preprint.
60 results