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.
Saved in:
| 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 |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1432-1203 |
|---|---|
| DOI: | 10.1007/s00439-024-02706-w |
