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Page 1
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.
Yalcouyé A, Schrauwen I, Traoré O, Bamba S, Aboagye ET, Acharya A, Bharadwaj T, Latanich R, Esoh K, Fortes-Lima CA, de Kock C, Jonas M, Maiga ADB, Cissé CAK, Sangaré MA, Guinto CO, Landouré G, Leal SM, Wonkam A. Yalcouyé A, et al. Among authors: schrauwen i. HGG Adv. 2025 Jan 9;6(1):100391. doi: 10.1016/j.xhgg.2024.100391. Epub 2024 Dec 10. HGG Adv. 2025. PMID: 39663698 Free PMC article.
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. Thomas HB, et al. Among authors: schrauwen i. medRxiv [Preprint]. 2024 Oct 11:2024.10.10.24315152. doi: 10.1101/2024.10.10.24315152. medRxiv. 2024. Update in: Am J Hum Genet. 2025 Apr 03;112(4):952-962. doi: 10.1016/j.ajhg.2025.02.005. PMID: 39417135 Free PMC article. Updated. Preprint.
Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly.
Abdullah, Bharadwaj T, Javed S, Khan H, Acharya A, Ji W, Umm-E-Kalsoom, Ali H, Schrauwen I, Ahmad W, Lakhani SA, Leal SM. Abdullah, et al. Among authors: schrauwen i. Genes (Basel). 2025 Sep 21;16(9):1118. doi: 10.3390/genes16091118. Genes (Basel). 2025. PMID: 41010063 Free PMC article.
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Tshering KC, DiStefano MT, Oza AM, Ajuyah P, Webb R, Edoh E, Broeren E, Ratliff J, Gitau V, Paris K, Aburyyan A, Alexander J, Albano V, Bai D, Booth KTA, Buonfiglio PI, Charfeddine C, Dalamón V, Castillo ID, Moreno-Pelayo MA, Duzkale H, Dorshorst B, Faridi R, Kenna M, Lewis MA, Luo M, Lu Y, Mkaouar R, Matsunaga T, Nara K, Pandya A, Redfield S, Roux I, Schimmenti LA, Schrauwen I, Shaaban S, Shen J, Vona B, Smith RJ, Rehm HL, Azaiez H, Abou Tayoun AN, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. Tshering KC, et al. Among authors: schrauwen i. Genet Med. 2025 Oct;27(10):101500. doi: 10.1016/j.gim.2025.101500. Epub 2025 Sep 7. Genet Med. 2025. PMID: 40923570 Free article. No abstract available.
Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss.
Twumasi Aboagye E, Adadey SM, Alves de Souza Rios L, Esoh KK, Wonkam-Tingang E, Xhakaza L, De Kock C, Schrauwen I, Amenga-Etego L, Lang D, Awandare GA, Leal SM, Mowla S, Wonkam A. Twumasi Aboagye E, et al. Among authors: schrauwen i. Int J Mol Sci. 2025 Apr 3;26(7):3337. doi: 10.3390/ijms26073337. Int J Mol Sci. 2025. PMID: 40244166 Free PMC article.
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Mancilar H, Tumer S, Esen FN, Uctepe E, Topcu V, Yesilyurt A, Afzal E, Salari M, Carroll C, Zifarelli G, Bauer P, Kor D, Bulut FD, Houlden H, Maroofian R, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. Thomas HB, et al. Among authors: schrauwen i. Am J Hum Genet. 2025 Apr 3;112(4):952-962. doi: 10.1016/j.ajhg.2025.02.005. Epub 2025 Mar 4. Am J Hum Genet. 2025. PMID: 40043708 Free PMC article.
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Tshering KC, DiStefano MT, Oza AM, Ajuyah P, Webb R, Edoh E, Broeren E, Ratliff J, Gitau V, Paris K, Aburyyan A, Alexander J, Albano V, Bai D, Booth KTA, Buonfiglio PI, Charfeddine C, Dalamón V, Castillo ID, Moreno-Pelayo MA, Duzkale H, Dorshorst B, Faridi R, Kenna M, Lewis MA, Luo M, Lu Y, Mkaouar R, Matsunaga T, Nara K, Pandya A, Redfield S, Roux I, Schimmenti LA, Schrauwen I, Shaaban S, Shen J, Vona B, Smith RJ, Rehm HL, Azaiez H, Abou Tayoun AN, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. Tshering KC, et al. Among authors: schrauwen i. Genet Med. 2025 May;27(5):101392. doi: 10.1016/j.gim.2025.101392. Epub 2025 Feb 19. Genet Med. 2025. PMID: 39987489
144 results