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
F
Francesca Peluso
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Francesca Peluso is an academic researcher from Azienda Sanitaria Unità Locale di Reggio Emilia. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Congenital heart defects research & Genetics and Neurodevelopmental Disorders. The author has an h-index of 8, co-authored 29 publications.
ORCID: 0000-0002-0976-1258Papers by this author
worksAn early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
2018 · The Italian Journal of Pediatrics/Italian journal of pediatrics · 15 citations
https://doi.org/10.1186/s13052-018-0580-z
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
An uncommon neuroradiological finding of hippocampal malrotation in childhood onset schizophrenia and 22q11.2 Deletion Syndrome: a case report and a brief review of the literature
2024 · European Child & Adolescent Psychiatry · 2 citations
https://doi.org/10.1007/s00787-024-02569-6
Two novel compound heterozygous <scp><i>HOXB1</i></scp> variants in congenital facial palsy: A case report and a brief review of the literature
2024 · American Journal of Medical Genetics Part A · 1 citations
https://doi.org/10.1002/ajmg.a.63848
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