Michael T. Geraghty

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Deborah J. Marsh, Jennifer B. Kum, Kathryn L. Lunetta et al. · Human Molecular Genetics · 1999 · 613 citations

Medicine, Molecular Genetics, Oncology +17

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

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Kym M. Boycott, Taila Hartley, Shelin Adam et al. · Journal of Medical Genetics · 2015 · 234 citations · Full text

Medicine, Pharmacology, Biochemical Pharmacology +13

Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome

Peter C. Rowe, Diana F. Barron, Hugh Calkins et al. · The Journal of Pediatrics · 1999 · 224 citations

Medicine, Internal Medicine, Physiology +13

Phenylketonuria in adulthood: A collaborative study

Richard Koch, Barbara K. Burton, George Hoganson et al. · Journal of Inherited Metabolic Disease · 2002 · 215 citations

Medicine, Endocrinology, Pediatrics +3