David W. Stockton

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

Olga Zhuchenko, Jennifer M. Bailey, Penelope E. Bonnen et al. · Nature Genetics · 1997 · 1.6K citations

Small Polyglutamine Expansions, Neurobiology Of Disease, Molecular Neuroscience +14

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe et al. · New England Journal of Medicine · 2012 · 620 citations · Full text

Mutation of PAX9 is associated with oligodontia

David W. Stockton, Parimal Das, Monica Goldenberg et al. · Nature Genetics · 2000 · 524 citations

Mendelian Disorder, Genetic Disorder, Medicine +5

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Hiroshi Takashima, Cornelius F. Boerkoel, Joy John et al. · Nature Genetics · 2002 · 521 citations

Genome Instability, Neurodegenerative Diseases, Molecular Neuroscience +10

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

Sonny Ang, Hua Chen, Kiichi Hirota et al. · Nature Genetics · 2002 · 498 citations

Chuvash Polycythemia, Developmental Biology, Physiology +9