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Jorge Saraiva | doi.page

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Jorge Saraiva

Hospitais da Universidade de Coimbra(PT)University of Coimbra(PT)

Publications by Year

Research Areas

Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Connective tissue disorders research, Immunodeficiency and Autoimmune Disorders, Retinal Development and Disorders

Most-Cited Works

→ Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia(2002)326 cited
→ Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)(2007)315 cited
→ Joubert syndrome: A review(1992)299 cited
→ Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update(2014)178 cited
→ DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome(2015)136 cited
→ Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains(1992)134 cited

→ Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients(2015)

108 cited

→ Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome(2013)107 cited

→ Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome(2014)100 cited

→ Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis(2003)88 cited