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Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.
Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, Jain SP, Chioza BA, Walz K, Steel KP, Nasir J, Tekin M. Bademci G, et al. Among authors: chioza ba. Proc Natl Acad Sci U S A. 2022 Jun 28;119(26):e2204084119. doi: 10.1073/pnas.2204084119. Epub 2022 Jun 21. Proc Natl Acad Sci U S A. 2022. PMID: 35727972 Free PMC article.
SLITRK6 mutations cause myopia and deafness in humans and mice.
Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH. Tekin M, et al. Among authors: chioza ba. J Clin Invest. 2013 May;123(5):2094-102. doi: 10.1172/JCI65853. Epub 2013 Apr 1. J Clin Invest. 2013. PMID: 23543054 Free PMC article.
Mutation of HERC2 causes developmental delay with Angelman-like features.
Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH. Harlalka GV, et al. Among authors: chioza ba. J Med Genet. 2013 Feb;50(2):65-73. doi: 10.1136/jmedgenet-2012-101367. Epub 2012 Dec 14. J Med Genet. 2013. PMID: 23243086
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
Muggenthaler MM, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, Zahka K, Faqeih E, Blakley B, Jackson M, Lees M, Dolinsky V, Cross L, Stanier P, Salter C, Baple EL, Alkuraya FS, Crosby AH, Triggs-Raine B, Chioza BA. Muggenthaler MM, et al. Among authors: chioza ba. PLoS Genet. 2017 Jan 12;13(1):e1006470. doi: 10.1371/journal.pgen.1006470. eCollection 2017 Jan. PLoS Genet. 2017. PMID: 28081210 Free PMC article.
MNS1 variant associated with situs inversus and male infertility.
Leslie JS, Rawlins LE, Chioza BA, Olubodun OR, Salter CG, Fasham J, Jones HF, Cross HE, Lam S, Harlalka GV, Muggenthaler MMA, Crosby AH, Baple EL. Leslie JS, et al. Among authors: chioza ba. Eur J Hum Genet. 2020 Jan;28(1):50-55. doi: 10.1038/s41431-019-0489-z. Epub 2019 Sep 18. Eur J Hum Genet. 2020. PMID: 31534215 Free PMC article.
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
Khan K, Mehmood S, Liu C, Siddiqui M, Ahmad A, Faiz BY, Chioza BA, Baple EA, Ullah MI, Akram Z, Satti HS, Khan R, Harlalka GV, Jameel M, Akram T, Baig SM, Crosby AH, Hassan MJ, Zhang F, Davis EE, Khan TN. Khan K, et al. Among authors: chioza ba. Am J Med Genet A. 2022 Feb;188(2):498-508. doi: 10.1002/ajmg.a.62545. Epub 2021 Oct 25. Am J Med Genet A. 2022. PMID: 34697879
Defective mitochondrial mRNA maturation is associated with spastic ataxia.
Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN. Crosby AH, et al. Among authors: chioza ba. Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21. Am J Hum Genet. 2010. PMID: 20970105 Free PMC article.
56 results