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104 results

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A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC. Strong A, et al. Among authors: butali a. Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751037 Free PMC article.
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.
Robinson K, Mosley TJ, Rivera-González KS, Jabbarpour CR, Curtis SW, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Cutler DJ, Epstein MP, Gowans LJJ, Hecht JT, Murray JC, Shaw GM, Uribe LM, Weinberg SM, Brand H, Marazita ML, Lipinski RJ, Leslie EJ. Robinson K, et al. Among authors: butali a. HGG Adv. 2023 Aug 25;4(4):100234. doi: 10.1016/j.xhgg.2023.100234. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37719664 Free PMC article.
Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa.
Butali A, Mossey PA, Adeyemo WL, Eshete MA, Gaines LA, Even D, Braimah RO, Aregbesola BS, Rigdon JV, Emeka CI, James O, Ogunlewe MO, Ladeinde AL, Abate F, Hailu T, Mohammed I, Gravem PE, Deribew M, Gesses M, Adeyemo AA, Murray JC. Butali A, et al. Mol Genet Genomic Med. 2014 May;2(3):254-60. doi: 10.1002/mgg3.66. Epub 2014 Jan 27. Mol Genet Genomic Med. 2014. PMID: 24936515 Free PMC article.
Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population.
Butali A, Mossey P, Adeyemo W, Eshete M, Gaines L, Braimah R, Aregbesola B, Rigdon J, Emeka C, Olutayo J, Ogunlewe O, Ladeinde A, Abate F, Hailu T, Mohammed I, Gravem P, Deribew M, Gesses M, Adeyemo A, Marazita M, Murray J. Butali A, et al. Am J Med Genet A. 2014 Oct;164A(10):2567-71. doi: 10.1002/ajmg.a.36691. Epub 2014 Jul 31. Am J Med Genet A. 2014. PMID: 25081408 Free PMC article.
Multidisciplinary approach to genomics research in Africa: the AfriCRAN model.
Butali A, Mossey P, Tiffin N, Adeyemo W, Eshete M, Mumena C, Audu R, Onwuamah C, Agbenorku P, Ogunlewe M, Adebola A, Olasoji H, Aregbesola B, Braimah R, Oladugba A, Onah I, Adebiyi E, Olaitan P, Abdur-Rahman L, Adeyemo A. Butali A, et al. Pan Afr Med J. 2015 Jul 30;21:229. doi: 10.11604/pamj.2015.21.229.7380. eCollection 2015. Pan Afr Med J. 2015. PMID: 26523171 Free PMC article.
104 results