Albert E. Chudley

Mutations in the Gene for Cardiac Myosin-Binding Protein C and Late-Onset Familial Hypertrophic Cardiomyopathy

Hideshi Niimura, Linda L. Bachinski, Somkiat Sangwatanaroj et al. · New England Journal of Medicine · 1998 · 758 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

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

Massimo Attanasio, N. Henriette Uhlenhaut, Vitor H. Sousa et al. · Nature Genetics · 2007 · 237 citations

Inflammation, Mitophagy, Disease Mechanism +13

Kabuki syndrome: international consensus diagnostic criteria

Margaret P Adam, Siddharth Banka, Hans T. Björnsson et al. · Journal of Medical Genetics · 2018 · 229 citations · Full text

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