Using next‐generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities
Kasmintan A. Schrader, David G. Huntsman(BC Cancer Agency), Paula J. Waters(BC Children's Hospital), Sohrab P. Shah(Memorial Sloan Kettering Cancer Center), Gavin Ha(AstraZeneca (United Kingdom)), Alireza Heravi‐Moussavi(University of British Columbia), Terry‐Lynn Young(Memorial University of Newfoundland), Torsten O. Nielsen(University of British Columbia), Marco A. Marra(University of British Columbia), Martin Hirst(University of British Columbia), Niki Boyd(University of British Columbia), James Whelan(Memorial University of Newfoundland), Janine Senz(University of British Columbia), Steven J.M. Jones(University of British Columbia), Jane Green(Memorial University of Newfoundland), Barry Gallagher, Patrice Eydoux(Hôpital Ambroise-Paré), Arusha Oloumi(École Nationale Supérieure de Chimie de Montpellier), Bridget A. Fernandez(Memorial University of Newfoundland)
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