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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy
Unsolved recognizable patterns of human malformation: Challenges and opportunities
When One Diagnosis Is Not Enough
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms
