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Page 1
Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
Alade AA, Buxo-Martinez CJ, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Adeleke C, Busch T, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Li M, Petrin A, Olotu J, Aldous C, Olutayo J, Ogunlewe MO, Abate F, Hailu T, Muhammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Oti AA, Olatosi O, Miller SE, Donkor P, Dunnwald MM, Marazita ML, Adeyemo AA, Murray JC, Butali A. Alade AA, et al. Among authors: busch t. Mol Genet Genomic Med. 2020 Aug;8(8):e1355. doi: 10.1002/mgg3.1355. Epub 2020 Jun 17. Mol Genet Genomic Med. 2020. PMID: 32558391 Free PMC article. Review.
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.
Moreno LM, Mansilla MA, Bullard SA, Cooper ME, Busch TD, Machida J, Johnson MK, Brauer D, Krahn K, Daack-Hirsch S, L'heureux J, Valencia-Ramirez C, Rivera D, López AM, Moreno MA, Hing A, Lammer EJ, Jones M, Christensen K, Lie RT, Jugessur A, Wilcox AJ, Chines P, Pugh E, Doheny K, Arcos-Burgos M, Marazita ML, Murray JC, Lidral AC. Moreno LM, et al. Among authors: busch td. Hum Mol Genet. 2009 Dec 15;18(24):4879-96. doi: 10.1093/hmg/ddp444. Epub 2009 Sep 24. Hum Mol Genet. 2009. PMID: 19779022 Free PMC article.
Replication of a genome-wide association study of birth weight in preterm neonates.
Ryckman KK, Feenstra B, Shaffer JR, Bream EN, Geller F, Feingold E, Weeks DE, Gadow E, Cosentino V, Saleme C, Simhan HN, Merrill D, Fong CT, Busch T, Berends SK, Comas B, Camelo JL, Boyd H, Laurie CC, Crosslin D, Zhang Q, Doheny KF, Pugh E, Melbye M, Marazita ML, Dagle JM, Murray JC. Ryckman KK, et al. Among authors: busch t. J Pediatr. 2012 Jan;160(1):19-24.e4. doi: 10.1016/j.jpeds.2011.07.038. Epub 2011 Aug 31. J Pediatr. 2012. PMID: 21885063 Free PMC article.
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.
Leslie EJ, Taub MA, Liu H, Steinberg KM, Koboldt DC, Zhang Q, Carlson JC, Hetmanski JB, Wang H, Larson DE, Fulton RS, Kousa YA, Fakhouri WD, Naji A, Ruczinski I, Begum F, Parker MM, Busch T, Standley J, Rigdon J, Hecht JT, Scott AF, Wehby GL, Christensen K, Czeizel AE, Deleyiannis FW, Schutte BC, Wilson RK, Cornell RA, Lidral AC, Weinstock GM, Beaty TH, Marazita ML, Murray JC. Leslie EJ, et al. Among authors: busch t. Am J Hum Genet. 2015 Mar 5;96(3):397-411. doi: 10.1016/j.ajhg.2015.01.004. Epub 2015 Feb 19. Am J Hum Genet. 2015. PMID: 25704602 Free PMC article.
Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations.
Gowans LJ, Adeyemo WL, Eshete M, Mossey PA, Busch T, Aregbesola B, Donkor P, Arthur FK, Bello SA, Martinez A, Li M, Augustine-Akpan EA, Deressa W, Twumasi P, Olutayo J, Deribew M, Agbenorku P, Oti AA, Braimah R, Plange-Rhule G, Gesses M, Obiri-Yeboah S, Oseni GO, Olaitan PB, Abdur-Rahman L, Abate F, Hailu T, Gravem P, Ogunlewe MO, Buxó CJ, Marazita ML, Adeyemo AA, Murray JC, Butali A. Gowans LJ, et al. Among authors: busch t. J Dent Res. 2016 Oct;95(11):1245-56. doi: 10.1177/0022034516657003. Epub 2016 Jul 1. J Dent Res. 2016. PMID: 27369588 Free PMC article.
Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.
Liu H, Busch T, Eliason S, Anand D, Bullard S, Gowans LJJ, Nidey N, Petrin A, Augustine-Akpan EA, Saadi I, Dunnwald M, Lachke SA, Zhu Y, Adeyemo A, Amendt B, Roscioli T, Cornell R, Murray J, Butali A. Liu H, et al. Among authors: busch t. Birth Defects Res. 2017 Jan 20;109(1):27-37. doi: 10.1002/bdra.23596. Birth Defects Res. 2017. PMID: 28029220 Free PMC article.
The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa.
Gowans LJ, Busch TD, Mossey PA, Eshete MA, Adeyemo WL, Aregbesola B, Donkor P, Arthur FK, Agbenorku P, Olutayo J, Twumasi P, Braimah R, Oti AA, Plange-Rhule G, Obiri-Yeboah S, Abate F, Hoyte-Williams PE, Hailu T, Murray JC, Butali A. Gowans LJ, et al. Among authors: busch td. Mol Genet Genomic Med. 2017 Jan 12;5(2):164-171. doi: 10.1002/mgg3.273. eCollection 2017 Mar. Mol Genet Genomic Med. 2017. PMID: 28361103 Free PMC article.
391 results