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Nature Medicine|June 5, 2019
Identification of rare-disease genes using blood transcriptome sequencing and large control cohortsLaure Frésard, Craig Smail, Nicole M Ferraro, et al.American Journal of Human Genetics|February 8, 2020
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model OrganismsKym M Boycott, Philippe M Campeau, Heather E Howley, et al.Annals of Neurology|June 13, 2019
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementationViorica Chelban, Matthew P Wilson, Jodi Warman Chardon, et al.Journal of Genetic Counseling|May 5, 2026
Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencingAbigail Hansen, Stephanie Luca, Olivia Moran, et al.American Journal of Human Genetics|May 6, 2017
International Cooperation to Enable the Diagnosis of All Rare Genetic DiseasesKym M Boycott, Ana Rath, Jessica X Chong, et al.Cell|February 24, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresVincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, et al.Nature Genetics|June 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locusDavid Pellerin, Giulia F Del Gobbo, Madeline Couse, et al.Human Mutation|August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.Nature Genetics|June 26, 2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, et al.European Journal of Human Genetics : EJHG|August 3, 2018
Registered access: authorizing data accessStephanie O M Dyke, Mikael Linden, Ilkka Lappalainen, et al.Pageof 24