Melanie O'Leary

8PUBLICATIONS
193CO-AUTHORS
NeurogeneticsGene mappingNeurology and neuromuscular diseasesMedical devicesMedical infection agents (incl. prions)
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Publications (8)

|May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

|Apr 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Rocio Rius, Alexander J M Blakes, Yuyang Chen

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Feb 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Mar 22, 2025
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.

Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat

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Frequent Collaborators

4 joint publications

Matthew T Wheeler

4 joint publications

Jonathan A Bernstein

4 joint publications

Christel Depienne

4 joint publications

Tobias Haack