Title: DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
Authors: Anjali Vig, James A Poulter, Daniele Ottaviani, Erika Tavares, Katerina Toropova, Anna Maria Tracewska, Antonio Mollica, Jasmine Kang, Oshini Kehelwathugoda, Tara Paton, Jason T Maynes, Gabrielle Wheway, Gavin Arno, Genomics England Research Consortium; Kamron N Khan, Martin McKibbin, Carmel Toomes, Manir Ali, Matteo Di Scipio, Shuning Li, Jamie Ellingford, Graeme Black, Andrew Webster, Małgorzata Rydzanicz, Piotr Stawiński, Rafał Płoski, Ajoy Vincent , Michael E Cheetham, Chris F Inglehearn, Anthony Roberts, Elise Heon
Journal: Genetics in Medicine
Publication type: article
DOI: 10.1038/s41436-020-0915-1