Mutations in connexins are the most common causes of hearing impairment (HI) in many populations. Our aim was to review the global burden of pathogenic and likely pathogenic …
MS Scher - Seminars in Pediatric Neurology, 2022 - Elsevier
Gene-environment (G x E) interactions significantly influence neurologic outcomes. The maternal-placental-fetal (MPF) triad, neonate, or child less than 2 years may first exhibit …
A Wonkam, SM Adadey, I Schrauwen… - Communications …, 2022 - nature.com
We investigated hearing impairment (HI) in 51 families from Ghana with at least two affected members that were negative for GJB2 pathogenic variants. DNA samples from 184 family …
The incidence of hearing impairment (HI) is higher in low-and middle-income countries when compared to high-income countries. There is therefore a necessity to estimate the …
M Kamp, A Krause, M Ramsay - Human Molecular Genetics, 2021 - academic.oup.com
The rapid increase in genomics research in Africa and the growing promise of precision public health (PPH) begs the question of whether African genomics has come of age and is …
Y Dia, SM Adadey, JPD Diop, ET Aboagye, SA Ba… - Biology, 2022 - mdpi.com
Simple Summary The prevalence of GJB2-related (MIM: 121011) congenital non-syndromic hearing impairment (NSHI) accounts for close to 50% in populations of Asian and European …
Hearing impairment (HI) is highly heterogeneous with over 123 associated genes reported to date, mostly from studies among Europeans and Asians. Here, we performed a systematic …
DT Bui, ANV Ton, CTD Nguyen, SH Nguyen… - Scientific Reports, 2024 - nature.com
Among the most prevalent neurodevelopmental disorders, Autism Spectrum Disorder (ASD) is highly diverse showing a broad phenotypic spectrum. ASD also couples with a broad …
ET Aboagye, SM Adadey, K Esoh, M Jonas, C de Kock… - Biology, 2022 - mdpi.com
Simple Summary The incidence of the GJB2-p.(Arg143Trp) founder mutation in numerous populations of different ethnolinguistic and geographical backgrounds has generated …