Jillian S. Parboosingh

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans et al. · Nature Cell Biology · 2015 · 245 citations · Full text

Ciliopathy Genes, Functional Genomics, Glioma +10

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Kym M. Boycott, Chandree L. Beaulieu, Kristin D. Kernohan et al. · The American Journal of Human Genetics · 2015 · 224 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Autosomal-recessive Intellectual Disability +10

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

François P. Bernier, Oana Caluseriu, Sarah Ng et al. · The American Journal of Human Genetics · 2012 · 223 citations · Full text

Genetic Disorder, Natural Sciences, Genetics +10

Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

Kym M. Boycott, Shauna Flavelle, Alexandre Bureau et al. · The American Journal of Human Genetics · 2005 · 216 citations · Full text

Homozygous Deletion, Neurodegenerative Diseases, Mendelian Disorder +6