James J. Dowling
University of New Brunswick(CA)University of Toronto(CA)Royal Perth Hospital(AU)Hospital for Sick Children(CA)Canada Research Chairs(CA)Children's of Alabama(US)University of Alabama at Birmingham(US)Maine Farmland Trust(US)SickKids Foundation(CA)University of Pennsylvania(US)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Neurogenetic and Muscular Disorders Research, Cellular transport and secretion, Genomics and Rare Diseases
Most-Cited Works
- → Improving genetic diagnosis in Mendelian disease with transcriptome sequencing(2017)790 cited
- → Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test(2017)558 cited
- → Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J(2007)505 cited
- → Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival.(1996)501 cited
- → Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration(1995)441 cited
- → Approach to the diagnosis of congenital myopathies(2013)318 cited