African genetic diversity and adaptation inform a precision medicine agenda

L Pereira, L Mutesa, P Tindana, M Ramsay - Nature Reviews Genetics, 2021 - nature.com
The deep evolutionary history of African populations, since the emergence of modern
humans more than 300,000 years ago, has resulted in high genetic diversity and …

Connexin genes variants associated with non-syndromic hearing impairment: a systematic review of the global burden

SM Adadey, E Wonkam-Tingang, E Twumasi Aboagye… - Life, 2020 - mdpi.com
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 …

Gene-environment interactions during the first thousand days influence childhood neurological diagnosis

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 …

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

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 …

Hearing impairment overview in Africa: the case of Cameroon

E Wonkam Tingang, JJ Noubiap, JV F. Fokouo… - Genes, 2020 - mdpi.com
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 …

Has translational genomics come of age in Africa?

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 …

GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal

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 loss in Africa: current genetic profile

SM Adadey, E Wonkam-Tingang, ET Aboagye… - Human genetics, 2022 - Springer
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 …

Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform

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 …

Age Estimate of GJB2-p.(Arg143Trp) Founder Variant in Hearing Impairment in Ghana, Suggests Multiple Independent Origins across Populations

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 …