Sarah Ball

Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human

Amanda E. Toland, Paraskevi Briassouli, John P. de Koning et al. · Nature Genetics · 2003 · 320 citations

Oncology, Medicine, Pathology +8

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

Clara D.M. van Karnebeek, William S. Sly, Colin J.D. Ross et al. · The American Journal of Human Genetics · 2014 · 104 citations

Localization of the gene for X‐linked spinal muscular atrophy

Kenneth H. Fischbeck, Victor Ionâşescu, Albert W. Ritter et al. · Neurology · 1986 · 84 citations

Mendelian Disorder, Genetic Disorder, Medicine +9

Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe.

Kay E. Davies, J Jackson, R. Williamson et al. · Journal of Medical Genetics · 1983 · 75 citations · Full text

Allelic Variant, Myotonic Dystrophy Families, Mendelian Disorder +15

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Johanna Uusimaa, Julie Evans, Conrad Smith et al. · European Journal of Human Genetics · 2013 · 70 citations · Full text