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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: bharadwaj t. 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.
A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.
Wonkam-Tingang E, Schrauwen I, Esoh KK, Bharadwaj T, Nouel-Saied LM, Acharya A, Nasir A, Leal SM, Wonkam A. Wonkam-Tingang E, et al. Among authors: bharadwaj t. Exp Biol Med (Maywood). 2021 Jul;246(13):1524-1532. doi: 10.1177/1535370221999746. Epub 2021 Mar 9. Exp Biol Med (Maywood). 2021. PMID: 33715530 Free PMC article.
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
Acharya A, Raza SI, Anwar MZ, Bharadwaj T, Liaqat K, Khokhar MAS, Everard JL, Nasir A; University of Washington Center for Mendelian Genomics; Nickerson DA, Bamshad MJ, Ansar M, Schrauwen I, Ahmad W, Leal SM. Acharya A, et al. Among authors: bharadwaj t. J Hum Genet. 2021 Oct;66(10):1009-1018. doi: 10.1038/s10038-021-00922-0. Epub 2021 Apr 21. J Hum Genet. 2021. PMID: 33879837 Free PMC article.
Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
Acharya A, Raza SI, Anwar MZ, Bharadwaj T, Liaqat K, Khokhar MAS, Everard JL, Nasir A; University of Washington Center for Mendelian Genomics; Nickerson DA, Bamshad MJ, Ansar M, Schrauwen I, Ahmad W, Leal SM. Acharya A, et al. Among authors: bharadwaj t. J Hum Genet. 2021 Oct;66(10):1019. doi: 10.1038/s10038-021-00949-3. J Hum Genet. 2021. PMID: 34135457 Free PMC article. No abstract available.
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
Bharadwaj T, Schrauwen I, Rehman S, Liaqat K, Acharya A, Giese APJ, Nouel-Saied LM, Nasir A, Everard JL, Pollock LM, Zhu S, Bamshad MJ, Nickerson DA, Ali RH, Ullah A, Wali A, Ali G, Santos-Cortez RLP, Ahmed ZM, McDermott BM Jr, Ansar M, Riazuddin S, Ahmad W, Leal SM. Bharadwaj T, et al. Eur J Hum Genet. 2022 Jan;30(1):22-33. doi: 10.1038/s41431-021-00913-x. Epub 2021 Jun 16. Eur J Hum Genet. 2022. PMID: 34135477 Free PMC article.
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment.
Adadey SM, Schrauwen I, Aboagye ET, Bharadwaj T, Esoh KK, Basit S, Acharya A, Nouel-Saied LM, Liaqat K, Wonkam-Tingang E, Mowla S, Awandare GA, Ahmad W, Leal SM, Wonkam A. Adadey SM, et al. Among authors: bharadwaj t. J Hum Genet. 2021 Dec;66(12):1169-1175. doi: 10.1038/s10038-021-00954-6. Epub 2021 Jul 5. J Hum Genet. 2021. PMID: 34226616 Free PMC article.
A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family.
Manyisa N, Schrauwen I, de Souza Rios LA, Mowla S, Tekendo-Ngongang C, Popel K, Esoh K, Bharadwaj T, Nouel-Saied LM, Acharya A, Nasir A, Wonkam-Tingang E, Kock C, Dandara C, Leal SM, Wonkam A. Manyisa N, et al. Among authors: bharadwaj t. Genes (Basel). 2021 Nov 6;12(11):1765. doi: 10.3390/genes12111765. Genes (Basel). 2021. PMID: 34828371 Free PMC article.
82 results