Novel Pathogenic Variants in <i>PJVK</i>, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorde... by María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Pietro Scimemi, Patrizia Mancini, Nanna D. Rendtorff, Miguel A. Moreno-Pelayo, Lisbeth Tranebjaerg, Carme Medà, Rosamaria Santarelli, Ignacio del Castillo

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A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. by Mette Nyegaard, Nanna D Rendtorff, Morten S Nielsen, Thomas J Corydon, Ditte Demontis, Anna Starnawska, Anne Hedemand, Annalisa Buniello, Francesco Niola, Michael T Overgaard, Suzanne M Leal, Wasim Ahmad, Friedrik P Wikman, Kirsten B Petersen, Dorthe G Crüger, Jaap Oostrik, Hannie Kremer, Niels Tommerup, Morten Frödin, Karen P Steel, Lisbeth Tranebjærg, Anders D Børglum

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Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss by Giulia Ascari, Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Miriam Bauwens, Mattias Van Heetvelde, Mattias Van Heetvelde, Gavin Arno, Gavin Arno, Gavin Arno, Julie Jacob, David Creytens, David Creytens, Jo Van Dorpe, Jo Van Dorpe, Thalia Van Laethem, Thalia Van Laethem, Toon Rosseel, Toon Rosseel, Tim De Pooter, Tim De Pooter, Peter De Rijk, Peter De Rijk, Wouter De Coster, Wouter De Coster, Björn Menten, Björn Menten, Alfredo Dueñas Rey, Alfredo Dueñas Rey, Mojca Strazisar, Mojca Strazisar, Mette Bertelsen, Mette Bertelsen, Lisbeth Tranebjaerg, Lisbeth Tranebjaerg, Elfride De Baere, Elfride De Baere

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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction by Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

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