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Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

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Title: Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
Authors: Velde HM; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Vaseghi-Shanjani M; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada., Smits JJ; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Ramakrishnan G; Department of Medical Biosciences, Radboudumc, Nijmegen, The Netherlands., Oostrik J; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands., Wesdorp M; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands., Astuti G; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Yntema HG; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Hoefsloot L; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Lanting CP; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Huynen MA; Center for Molecular and Biomolecular Informatics, Radboudumc, Nijmegen, The Netherlands., Lehman A; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada., Turvey SE; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada., Pennings RJE; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Kremer H; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl.; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl.
Corporate Authors: DOOFNL Consortium
Source: Human genetics [Hum Genet] 2024 Nov; Vol. 143 (11), pp. 1379-1399. Date of Electronic Publication: 2024 Oct 16.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
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  Data: <searchLink fieldCode="AU" term="%22Velde+HM%22">Velde HM</searchLink>; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Vaseghi-Shanjani+M%22">Vaseghi-Shanjani M</searchLink>; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Smits+JJ%22">Smits JJ</searchLink>; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Ramakrishnan+G%22">Ramakrishnan G</searchLink>; Department of Medical Biosciences, Radboudumc, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Oostrik+J%22">Oostrik J</searchLink>; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wesdorp+M%22">Wesdorp M</searchLink>; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Astuti+G%22">Astuti G</searchLink>; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Yntema+HG%22">Yntema HG</searchLink>; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoefsloot+L%22">Hoefsloot L</searchLink>; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lanting+CP%22">Lanting CP</searchLink>; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Huynen+MA%22">Huynen MA</searchLink>; Center for Molecular and Biomolecular Informatics, Radboudumc, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lehman+A%22">Lehman A</searchLink>; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Turvey+SE%22">Turvey SE</searchLink>; Department of Pediatrics, The University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Pennings+RJE%22">Pennings RJE</searchLink>; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kremer+H%22">Kremer H</searchLink>; Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl.; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Hannie.Kremer@radboudumc.nl.
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