Valeria Capra

25PUBLICATIONS

226CO-AUTHORS

Developmental genetics (incl. sex determination)NeonatologyNeurogeneticsNeurology and neuromuscular diseasesMedical microbiology not elsewhere classified

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Publications (25)

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|May 27, 2026

Studying Familial Bainbridge-Ropers Syndrome Due to a Novel ASXL3 Germline Variant and Expanding the Clinical Spectrum.

|Apr 09, 2026

Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome.

Amber S E van Oirsouw, Tzung-Chien Hsieh, Martijn Koetsier

|Apr 02, 2026

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Camille Engel, Michaela Rendek, Jessica Assoumani

|Dec 31, 2025

The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.

Nami Altin, Kamel Mamchaoui, Jessica Ohana

|Oct 23, 2025

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Pasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri

|Jul 29, 2025

Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis.

Marzia Ognibene, Gianluca Piccolo, Marco Crocco

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Frequent Collaborators

Mariasavina Severino

Marcello Scala

Andrea Rossi

Domenico Tortora

Federico Zara

Pasquale Striano

Patrizia De Marco

Giovanni Morana

Marco Pavanello

Juliette Piard

Frequent Collaborators

Mariasavina Severino

Marcello Scala

Andrea Rossi

Domenico Tortora