D. Ross McLeod

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Cornelius F. Boerkoel, Hiroshi Takashima, Joy John et al. · Nature Genetics · 2002 · 330 citations

Life Sciences, Genetics, Molecular Biology +11

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

Stephen R. Williams, Micheala A. Aldred, Vazken M. Der Kaloustian et al. · The American Journal of Human Genetics · 2010 · 305 citations · Full text

Medicine, Genetics, Molecular Genetics +8

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas et al. · Human Mutation · 2005 · 285 citations

Life Sciences, Genetics, Molecular Genetics +17

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 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 220 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14