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ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.
Camarena V, Williams MM, Morales AA, Zafeer MF, Kilic OV, Kamiar A, Abad C, Rasmussen MA, Briski LM, Peart L, Bademci G, Barbouth DS, Smithson S, Wang G, Shehadeh LA, Walz K, Tekin M. Camarena V, et al. Among authors: zafeer mf. JCI Insight. 2024 Feb 1;9(5):e174417. doi: 10.1172/jci.insight.174417. JCI Insight. 2024. PMID: 38300707 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: zafeer mf. Hum Genomics. 2023 Nov 24;17(1):103. doi: 10.1186/s40246-023-00556-7. Hum Genomics. 2023. PMID: 37996878 Free PMC article.
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
Borja N, Zafeer MF, Rodriguez JA, Morel Swols D, Thorson W, Bademci G, Tekin M. Borja N, et al. Among authors: zafeer mf. Am J Med Genet A. 2023 Apr;191(4):1044-1049. doi: 10.1002/ajmg.a.63119. Epub 2023 Jan 11. Am J Med Genet A. 2023. PMID: 36628575 Review.
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: zafeer mf. 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.
24 results