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Rosangela Artuso | doi.page

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Rosangela Artuso

Meyer Children's Hospital(IL)Meyer Children's Hospital(IT)

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, SARS-CoV-2 and COVID-19 Research, Genomic variations and chromosomal abnormalities, Renal Diseases and Glomerulopathies, Genomics and Rare Diseases

Most-Cited Works

→ FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome(2008)432 cited
→ Mutations in FN1 cause glomerulopathy with fibronectin deposits(2008)152 cited
→ The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis(2017)122 cited
→ Novel FOXG1 mutations associated with the congenital variant of Rett syndrome(2009)108 cited
→ Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome(2010)102 cited
→ Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome(2019)94 cited
→

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome

(2009)

93 cited

→ 2q24–q31 Deletion: Report of a case and review of the literature(2006)89 cited

→ Advances in Alport syndrome diagnosis using next-generation sequencing(2011)82 cited

→ Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria(2009)72 cited