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Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, Sulmonte LAG, Wonkam A, Schrauwen I, Leal SM, Azaiez H, Brewer CC, Riazuddin S, Hufnagel RB, Hoa M, Zein WM, de Dios JK, Friedman TB. Faridi R, et al. Among authors: wonkam a. Clin Genet. 2023 Jun;103(6):699-703. doi: 10.1111/cge.14312. Epub 2023 Mar 13. Clin Genet. 2023. PMID: 36807241 Free PMC article.
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.
Lebeko K, Sloan-Heggen CM, Noubiap JJ, Dandara C, Kolbe DL, Ephraim SS, Booth KT, Azaiez H, Santos-Cortez RL, Leal SM, Smith RJ, Wonkam A. Lebeko K, et al. Among authors: wonkam a. Clin Genet. 2016 Sep;90(3):288-90. doi: 10.1111/cge.12799. Epub 2016 Jun 1. Clin Genet. 2016. PMID: 27246798 Free PMC article.
GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.
Adadey SM, Esoh KK, Quaye O, Amedofu GK, Awandare GA, Wonkam A. Adadey SM, et al. Among authors: wonkam a. Exp Biol Med (Maywood). 2020 Sep;245(15):1355-1367. doi: 10.1177/1535370220931035. Epub 2020 Jun 11. Exp Biol Med (Maywood). 2020. PMID: 32524838 Free PMC article.
240 results