Rita Genesio

University of Naples Federico II — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

22h-index1.9kcitations82works1.02yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Genomic variations and chromosomal abnormalities(25), Prenatal Screening and Diagnostics(15), Congenital heart defects research(14), Fetal and Pediatric Neurological Disorders(8), Genomics and Rare Diseases(7)

Publications80 total

[Corrigendum] Lithium chloride induces mesenchymal‑to‑epithelial reverting transition in primary colon cancer cell cultures
International Journal of Oncology·2025Open Access
AUTS2-related syndrome: Insights from a large European cohort
Genetics in Medicine·2025· 3 citedOpen Access
A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiency
Frontiers in Immunology·2024· 1 citedOpen Access
A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiency
2024Open Access
Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study)
Obstetrical & Gynecological Survey·2023
Profilin 1 deficiency drives mitotic defects and reduces genome stability
Communications Biology·2023· 13 citedOpen Access
Peculiar footprints in a child with agenesis of corpus callosum
Journal of Paediatrics and Child Health·2022
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
Prenatal Diagnosis·2022· 10 citedOpen Access
Invasive prenatal diagnosis during COVID-19 pandemic
Archives of Gynecology and Obstetrics·2021· 18 citedOpen Access
Human Trisomic iPSCs from Down Syndrome Fibroblasts Manifest Mitochondrial Alterations Early during Neuronal Differentiation
Biology·2021· 22 citedOpen Access
Case Report: Ophthalmologic Evaluation Over a Long Follow-Up Time in a Patient With Wolfram Syndrome Type 2: Slowly Progressive Optic Neuropathy as a Possible Clinical Finding
Frontiers in Pediatrics·2021· 2 citedOpen Access
Peculiar footprints in a child with agenesis of corpus callosum
Journal of Paediatrics and Child Health·2021
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene
Neurological Sciences·2020· 3 cited
P.185 The role for rare structural variants in the genetics of treatment resistant schizophrenia: preliminary data
European Neuropsychopharmacology·2020
Corrigendum: Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells
Frontiers in Genetics·2020Open Access
Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus
Haematologica·2020· 9 citedOpen Access
Clinical Phenotype, Immunological Abnormalities, and Genomic Findings in Patients with DiGeorge Spectrum Phenotype without 22q11.2 Deletion
The Journal of Allergy and Clinical Immunology In Practice·2020· 13 cited
Listen to Your Patients: A Diagnostic Clue
The Journal of Pediatrics·2020Open Access
A small 7q11.23 microduplication involving <scp> <i>GTF2I</i> </scp> in a family with intellectual disability
Clinical Genetics·2020· 13 citedOpen Access
Targeting Mitochondrial Network Architecture in Down Syndrome and Aging
International Journal of Molecular Sciences·2020· 38 citedOpen Access
page 1 of 4Next →

Frequent Co-authors

Lucio Nitsch(33), A. Conti(20), Antonella Izzo(14), Daniela Melis(11), Gerarda Cappuccio(10), Angela Mormile(10), Rita Cicatiello(9), Ennio Del Giudice(9), Generoso Andria(8), Nunzia Mollo(7), Valentina Ronga(7), Ferdinando Bonfiglio(6), Floriana Imperati(6), Simona Paladino(5), Alberto Casertano(5), Daniele De Brasi(5), Piero Pignataro(5), Gaetano Calı̀(4), Paolo Fontana(4), Nicola Brunetti‐Pierri(4)