Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
2018 · Genetics in Medicine · 106 citations
https://doi.org/10.1038/gim.2017.221
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Stefano Giuseppe Caraffi
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Stefano Giuseppe Caraffi is an academic researcher from Azienda Sanitaria Unità Locale di Reggio Emilia. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities. The author has an h-index of 17, co-authored 73 publications.
ORCID: 0000-0002-5033-7854Papers by this author
worksNeuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients
2016 · Genetics in Medicine · 55 citations
https://doi.org/10.1038/gim.2016.176
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
2023 · The American Journal of Human Genetics · 29 citations
https://doi.org/10.1016/j.ajhg.2023.04.008
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
2023 · Journal of Medical Genetics · 13 citations
https://doi.org/10.1136/jmg-2023-109141
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies
2018 · The Italian Journal of Pediatrics/Italian journal of pediatrics · 8 citations
https://doi.org/10.1186/s13052-018-0467-z
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders
2025 · European Journal of Human Genetics · 2 citations
https://doi.org/10.1038/s41431-025-01947-1
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