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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients
A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies