Jeremy Schwartzentruber
European Bioinformatics Institute
86 papers found
Refreshing results…
Publisher Correction: Molecular and functional variation in iPSC-derived sensory neurons
Download from www.nature.comBiallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.
Download from journals.sagepub.comMolecular and functional variation in iPSC-derived sensory neurons
Download from www.nature.comVery low depth whole genome sequencing in complex trait association studies
UploadWhole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits
UploadNovel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.
Download from doi.orgSevere Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
UploadMutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
UploadJoubert Syndrome in French Canadians and Identification of Mutations in CEP104
Download from doi.orgMissing publications? Search for publications with a matching author name.