Francesca Madia

10PUBLICATIONS
102CO-AUTHORS
Developmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesNeurogeneticsMolecular targets
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Publications (10)

|May 27, 2026
Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.

|Feb 13, 2026
Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.

Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi

|Feb 03, 2026
Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy.

Anna Corradi, Antonella Riva, Bruno Sterlini

|Dec 31, 2025
The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.

Nami Altin, Kamel Mamchaoui, Jessica Ohana

|Apr 14, 2025
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.

Cristina Chelleri, Marcello Scala, Patrizia De Marco

|Jul 22, 2024
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Angela Clara-Hwang, Stefani Stefani, Tracy Lau

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Frequent Collaborators

6 joint publications

Marcello Scala

5 joint publications

Federico Zara

4 joint publications

Pasquale Striano

3 joint publications

Marzia Ognibene