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Browsing by Author "Nasir, Abdul"

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Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment

Author: Wonkam-Tingang, Edmond ; Schrauwen, Isabelle ; Esoh, Kevin K ; Bharadwaj, Thashi ; Nouel-Saied, Liz M ; Acharya, Anushree ; Nasir, Abdul ; Adadey, Samuel M ; Mowla, Shaheen ; Leal, Suzanne M ; Wonkam, Ambroise Date: 23 Oct 2020 DNA samples from five members of a multiplex non-consanguineous Cameroonian family, segregating prelingual and progressive autosomal recessive non-syndromic sensorineural hearing impairment, underwent whole exome sequencing. We identified ... Read more c b
A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

Author: Manyisa, Noluthando ; Schrauwen, Isabelle ; de Souza Rios, Leonardo Alves ; Mowla, Shaheen ; Tekendo-Ngongang, Cedrik ; Popel, Kalinka ; Esoh, Kevin ; Bharadwaj, Thashi ; Nouel-Saied, Liz M. ; Acharya, Anushree ; Nasir, Abdul ; Wonkam-Tingang, Edmond ; Kock, Carmen de ; Dandara, Collet ; Leal, Suzanne M. ; Wonkam, Ambroise Date: 06 Nov 2021 Hearing impairment (HI) is a sensory disorder with a prevalence of 0.0055 live births in South Africa. DNA samples from a South African family presenting with progressive, autosomal dominant non-syndromic HI were subjected to whole-exome ... Read more c b

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