Press releases

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program

Thomas Cloney, Lyndon Gallacher, Lynn S Pais, Natalie B Tan, Alison Yeung, Zornitza Stark, Natasha J Brown, George McGillivray, Martin B Delatycki, Michelle G de Silva, Lilian Downie, Chloe A Stutterd, Justine Elliott, Alison G Compton, Alysia Lovgren, Ralph Oertel, David Francis, Katrina M Bell, Simon Sadedin, Sze Chern Lim, Guy Helman, Cas Simons, Daniel G Macarthur, David R Thorburn, Anne H O'Donnell-Luria, John Christodoulou, Susan M White, Tiong Yang Tan

10.1136/jmedgenet-2021-107902

November 5, 2021

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

Suzanne E de Bruijn, Jeroen J Smits, Chang Liu, Cornelis P Lanting, Andy J Beynon, Joëlle Blankevoort, Jaap Oostrik, Wouter Koole, Erik de Vrieze, Cor W R J Cremers, Frans P M Cremers, Susanne Roosing, Helger G Yntema, Henricus P M Kunst, Bo Zhao, Ronald J E Pennings, Hannie Kremer, DOOFNL Consortium, M F van Dooren, H H W de Gier, E H Hoefsloot, M P van der Schroeff, S G Kant, L J C Rotteveel, F G Ropers, J C C Widdershoven, J R Hof, E K Vanhoutte, R J C Admiraal, I Feenstra, H Kremer, C P Lanting, R J E Pennings, H G Yntema, R H Free, J S Klein Wassink-Ruiter, R J Stokroos, A L Smit, M J van den Boogaard, F A Ebbens, S M Maas, A Plomp, T P M Goderie, P Merkus, J M van de Kamp

10.1136/jmedgenet-2020-106863

July 6, 2020