Athina Ververi

7PUBLICATIONS
95CO-AUTHORS
Epidemiological methodsNeurology and neuromuscular diseasesNeonatologyEpigenetics (incl. genome methylation and epigenomics)Haematological tumours
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Publications (7)

|Jun 24, 2025
An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.

E Woods, N Holmes, A S Denommé-Pichon

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

|Aug 26, 2023
Beckwith-Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations.

Maria Moutafi, Nikolaos Gkiourtzis, Athina Ververi

|Sep 06, 2022
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Athina Ververi, Sara Zagaglia, Lara Menzies

|May 20, 2022
Patient with recurrent mosaic KRAS variant: Rare oculoectodermal syndrome with severe neurologic phenotype.

Athina Ververi, Stamatia Laidou, Anastasia Chatzidimitriou

|Jan 20, 2022
Lethal COG6-CDG in neonatal patient with arachnodactyly, joint contractures, and skin manifestations: Founder mutation in the Southeastern European population?

Athina Ververi, Theodora Stathopoulou, Aggeliki Kontou

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Frequent Collaborators

1 joint publications

E Woods

1 joint publications

A S Denommé-Pichon

1 joint publications

C Gooch

1 joint publications

C W Ockeloen