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Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.
Wonkam A, Adadey SM, Schrauwen I, Aboagye ET, Wonkam-Tingang E, Esoh K, Popel K, Manyisa N, Jonas M, deKock C, Nembaware V, Cornejo Sanchez DM, Bharadwaj T, Nasir A, Everard JL, Kadlubowska MK, Nouel-Saied LM, Acharya A, Quaye O, Amedofu GK, Awandare GA, Leal SM. Wonkam A, et al. Among authors: kadlubowska mk. Commun Biol. 2022 Apr 19;5(1):369. doi: 10.1038/s42003-022-03326-8. Commun Biol. 2022. PMID: 35440622 Free PMC article.
A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.
Yalcouyé A, Traoré O, Diarra S, Schrauwen I, Esoh K, Kadlubowska MK, Bharadwaj T, Adadey SM, Kéita M, Guinto CO, Leal SM, Landouré G, Wonkam A. Yalcouyé A, et al. Among authors: kadlubowska mk. Mol Genet Genomic Med. 2022 Jul;10(7):e1995. doi: 10.1002/mgg3.1995. Epub 2022 Jun 14. Mol Genet Genomic Med. 2022. PMID: 35698919 Free PMC article.
Rare-variant association analysis reveals known and new age-related hearing loss genes.
Cornejo-Sanchez DM, Li G, Fabiha T, Wang R, Acharya A, Everard JL, Kadlubowska MK, Huang Y, Schrauwen I, Wang GT, DeWan AT, Leal SM. Cornejo-Sanchez DM, et al. Among authors: kadlubowska mk. Eur J Hum Genet. 2023 Jun;31(6):638-647. doi: 10.1038/s41431-023-01302-2. Epub 2023 Feb 15. Eur J Hum Genet. 2023. PMID: 36788145 Free PMC article.