Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
PubWeight™: 0.75‹?›
Published in Hum Genet on February 28, 2022
Authors
Hedwig M Velde1,2, Janine Reurink2,3, Sebastian Held4, Catherina H Z Li2,5, Suzanne Yzer2,5, Jaap Oostrik1,2, Jack Weeda5, Lonneke Haer-Wigman2,3, Helger G Yntema2,3, Susanne Roosing6, Laurenz Pauleikhoff7, Clemens A Lange8, Laura Whelan9, Adrian Dockery9,10, Julia Zhu11, David J Keegan11, G Jane Farrar9, Hannie Kremer12,13,14, Cornelis P Lanting1,2, Markus Damme4, Ronald J E Pennings15,16
Author Affiliations
1: Hearing and Genes, Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands.
2: Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.
3: Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.
4: Department of Biochemistry, University of Kiel, Kiel, Germany.
5: Department of Ophthalmology, Radboudumc, Nijmegen, The Netherlands.
6: Laboratory for Pediatric Brain Disease, New York Genome Center, Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
7: Eye Center, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
8: UCL Institute of Ophthalmology, University College London, London EC1V 9EL, England, UK.
9: The School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.
10: Next Generation Sequencing Laboratory, Pathology Department, The Mater Misericordiae University Hospital, Dublin, Ireland.
11: Mater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, Dublin, Ireland.
12: Department of Otorhinolaryngology, Hearing & Genes, Radboud university medical center, Nijmegen, 6525GA, the Netherlands hannie.kremer@radboudumc.nl s.siddiqi@ibge.edu.pk.
13: Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525GA, The Netherlands.
14: Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, 6525GA, The Netherlands.
15: Hearing and Genes, Department of Otorhinolaryngology, Radboudumc, Nijmegen, The Netherlands. Ronald.Pennings@radboudumc.nl.
16: Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands. Ronald.Pennings@radboudumc.nl.
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