Francesca Madia

Istituto Giannina Gaslini — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

34h-index4.5kcitations134works3.92yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(35), Genomics and Rare Diseases(22), Epilepsy research and treatment(19), Peripheral Neuropathies and Disorders(19), Hereditary Neurological Disorders(16)

Publications123 total

A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion
European Journal of Medical Genetics·2025Open Access
<i>USP25</i> in genetic generalized epilepsy: a gene under scrutiny
Brain·2025· 1 cited
Biallelic <i>COL4A2</i> Variants Associated With Brain Small Vessel Disease and Brain Malformations
Clinical Genetics·2025Open Access
Functional Characterization of a Novel Intronic Variant in <scp><i>PIEZO2</i></scp> in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (<scp>DAIPT</scp>)
Molecular Genetics & Genomic Medicine·2025Open Access
An Unusual Mainly Skeletal Prenatal Presentation of Cornelia de Lange Syndrome Due To a Novel Variant in <i>NIPBL</i>
Prenatal Diagnosis·2025
SC22 HBV and HCV testing in Italy’s marginalized groups: advancing who’s 2030 elimination goal
2025
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications
European Journal of Human Genetics·2025· 1 cited
The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital Myopathy
Human Mutation·2025Open Access
A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: phenotypic and genotypic expansion
SSRN Electronic Journal·2025Open Access
Novel causative variants in Legius syndrome: <i>SPRED1</i> Genotype spectrum expansion
American Journal of Medical Genetics Part A·2024· 6 citedOpen Access
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
Neurology Genetics·2024· 5 citedOpen Access
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
The American Journal of Human Genetics·2024· 3 citedOpen Access
Truncating variants in <i>PAPSS2</i> gene: A cause of early prenatal onset brachyolmia?
Prenatal Diagnosis·2024
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia
Frontiers in Pediatrics·2023· 3 citedOpen Access
<i>MYT1L</i> variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy
Epileptic Disorders·2023· 1 citedOpen Access
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
Human Genetics·2023· 14 citedOpen Access
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity
Human Mutation·2023· 4 citedOpen Access
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213
Cancers·2023· 7 citedOpen Access
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting
Genes·2023· 7 citedOpen Access
Unilateral Lisch nodules in a pediatric patient: a sign for genetic mosaicism?
Minerva Pediatrics·2023
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Frequent Co-authors

Federico Zara(27), Pasquale Striano(20), Mario Sabatelli(18), Elena Di Gennaro(15), Amelia Conte(15), Marco Luigetti(14), Carlo Minetti(12), Alessandra Del Grande(9), Pierangelo Veggiotti(8), Amedeo Bianchi(8), P. Tonali(8), Maria Margherita Mancardi(8), Giuseppe Capovilla(7), R. Gaggero(7), Federico Vigevano(7), Michele Iacomino(7), Ganna Balagura(7), Antonella Riva(7), Vincenzo Salpietro(7), Bernardo Dalla Bernardina(6)