Novel duplication in glypican‐4 as an apparent cause of Simpson–Golabi–Behmel syndrome

Detection of large-scale variation in the human genome

A. John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics · 2004 · 2.9K citations

Life Sciences, Bioinformatics, Genetics +14

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

Giuseppe Pilia, Rhiannon M. Hughes‐Benzie, Alex MacKenzie et al. · Nature Genetics · 1996 · 767 citations

Life Sciences, Genetics, Molecular Genetics +8

Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families

R Hughes-Benzie, Giuseppe Pilia, J.Y. Xuan et al. · American Journal of Medical Genetics · 1996 · 136 citations

Life Sciences, Genetics, Molecular Genetics +15

A new X‐linked mental retardation‐overgrowth syndrome

Mahin Golabi, Linda Rosen, John M. Opitz · American Journal of Medical Genetics · 1984 · 136 citations

Medicine, Genetics, Pediatrics +15

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome

Madeline Li, Cheryl Shuman, Yan Ling Fei et al. · American Journal of Medical Genetics · 2001 · 129 citations

Life Sciences, Genetics, Molecular Genetics +14