Virginia K. Proud

Mutations of <i>ARX</i> are associated with striking pleiotropy and consistent genotype–phenotype correlation

Mitsuhiro Kato, Soma Das, Kristin Petras et al. · Human Mutation · 2004 · 327 citations

Genetics, Pathology, Molecular Genetics +17

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

Stephen G. Kaler, Linda K. Gallo, Virginia K. Proud et al. · Nature Genetics · 1994 · 260 citations

Mild Menkes Phenotype, Mendelian Disorder, Genetic Disorder +9

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi‐Goutières syndrome

Georgia Ramantani, Jürgen Kohlhase, Christoph Hertzberg et al. · Arthritis & Rheumatism · 2010 · 209 citations

Duplication of 7p11.2-p13, Including GRB10, in Silver-Russell Syndrome

David Monk, Emma Wakeling, Virginia K. Proud et al. · The American Journal of Human Genetics · 2000 · 151 citations · Full text

Genetic Disorder, Genetics, Pathology +4

Family study of the inheritance of pectus excavatum

Heather Creswick, Michael W. Stacey, Robert E. Kelly et al. · Journal of Pediatric Surgery · 2006 · 145 citations

Pectus Excavatum, Axial Skeleton