Thomas D. Bird

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

Phillip F. Chance, M. Kathryn Alderson, Kathleen A. Leppig et al. · Cell · 1993 · 806 citations

Life Sciences, Genetics, Molecular Genetics +12

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Michael D. Koob, Melinda L. Moseley, Lawrence J. Schut et al. · Nature Genetics · 1999 · 639 citations

Medicine, Molecular Genetics, Neurology +13

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

Max A. Tischfield, Hagit Baris, Chen Wu et al. · Cell · 2010 · 602 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +14

A Worldwide Study of the Huntington's Disease Mutation: The Sensitivity and Specificity of Measuring CAG Repeats

Berry Kremer, Paul Goldberg, Susan E. Andrew et al. · New England Journal of Medicine · 1994 · 596 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Laura M. Amendola, Michael O. Dorschner, Peggy D. Robertson et al. · Genome Research · 2015 · 369 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17