Robert A. Saul

22q13 deletion syndrome

Mary C. Phelan, R. Curtis Rogers, Robert A. Saul et al. · American Journal of Medical Genetics · 2001 · 274 citations

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation

Luigi Boccuto, Kazuhiro Aoki, Heather Flanagan‐Steet et al. · Human Molecular Genetics · 2013 · 177 citations · Full text

Genetics, Glycobiology, Molecular Biology +17

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

Bradley Lee Griggs, Sydney Ladd, Robert A. Saul et al. · Genomics · 2007 · 93 citations · Full text

Inflammation, Cytokine, Autoimmune Disease +9

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Gabriela Jones, Pia Østergaard, Anthony T. Moore et al. · European Journal of Human Genetics · 2013 · 90 citations · Full text

Genetic Disorder, Kif11 Mutations, Pathology +6

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

Sonja A. Rasmussen, Steven D. Colman, Vikki Ho et al. · Journal of Medical Genetics · 1998 · 89 citations · Full text

Nf1 Gene Deletion, Mendelian Disorder, Genetic Disorder +13