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A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.
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.
Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology.
Kadlubowska MK, Schrauwen I.
Kadlubowska MK, et al.
Genes (Basel). 2022 Feb 11;13(2):333. doi: 10.3390/genes13020333.
Genes (Basel). 2022.
PMID: 35205378
Free PMC article.
Review.
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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.
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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
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