Jorge Saraiva

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Cornelius F. Boerkoel, Hiroshi Takashima, Joy John et al. · Nature Genetics · 2002 · 325 citations

Chromatin, Genome Instability, Chromatin Structure +7

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier, Maarit Peippo, Juliane Hoyer et al. · The American Journal of Human Genetics · 2007 · 312 citations · Full text

Clinical Disorders, Psychiatry, Pitt-hopkins Syndrome +6

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

Janson J. White, Juliana F. Mazzeu, Alexander Hoischen et al. · The American Journal of Human Genetics · 2015 · 135 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

Harry C. Dietz, Jorge Saraiva, Reed E. Pyeritz et al. · Human Mutation · 1992 · 134 citations

Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients

Ana Beleza‐Meireles, Rachel Hart, Jill Clayton‐Smith et al. · European Journal of Medical Genetics · 2015 · 108 citations

Oculo-auriculo-vertebral Spectrum, Histopathology, Pathology +6