Valeria Capra

25PUBLICATIONS
226CO-AUTHORS
Developmental genetics (incl. sex determination)NeonatologyNeurogeneticsNeurology and neuromuscular diseasesMedical microbiology not elsewhere classified
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Publications (25)

|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

9 joint publications

Mariasavina Severino

9 joint publications

Marcello Scala

7 joint publications

Andrea Rossi

6 joint publications

Domenico Tortora