Claire Bartolo

A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient

Thomas W. Prior, Audrey C. Papp, Pamela J. Snyder et al. · Nature Genetics · 1993 · 79 citations

Rare Diseases, Dystrophin Gene, Mendelian Disorder +7

Comparison of Capillary Electrophoresis and Polyacrylamide Gel Electrophoresis for the Evaluation of T and B Cell Clonality by Polymerase Chain Reaction

Nike Beaubier, Amy P. Hart, Claire Bartolo et al. · Diagnostic Molecular Pathology · 2000 · 49 citations

Identification of a missense mutation in a Friedreich's ataxia patient: Implications for diagnosis and carrier studies

Claire Bartolo, Jerry R. Mendell, Thomas W. Prior · American Journal of Medical Genetics · 1998 · 42 citations

Dystrophin expression in a Duchenne muscular dystrophy Patient with a frame shift deletion

Thomas W. Prior, Claire Bartolo, A C Papp et al. · Neurology · 1997 · 36 citations

Heteroduplex analysis of the dystrophin gene: Application to point mutation and carrier detection

Thomas W. Prior, Audrey C. Papp, Pamela J. Snyder et al. · American Journal of Medical Genetics · 1994 · 27 citations