Callum Wilson

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Sarah E. Calvo, Elena J. Tucker, Alison G. Compton et al. · Nature Genetics · 2010 · 361 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

Eija Siintola, Meral Topçu, Nina Aula et al. · The American Journal of Human Genetics · 2007 · 230 citations · Full text

Life Sciences, Genetics, Neuroscience +12

New NBIA subtype

Penelope Hogarth, Allison Gregory, Michael C. Kruer et al. · Neurology · 2012 · 180 citations

Life Sciences, Neurology, Neuroscience +17

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma

A. T. Pagnamenta, Jan‐Willem Taanman, Callum Wilson et al. · Human Reproduction · 2006 · 171 citations

Life Sciences, Genetics, Molecular Genetics +17

Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficiency

Barbara Burwinkel, John W. Scott, Christoph Bührer et al. · The American Journal of Human Genetics · 2005 · 153 citations · Full text

Medicine, Genetics, Molecular Biology +17