Cinthia Aguilera

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

N. Baena, E. Gabau, A. Ruiz, 2017, BMC Medical Genetics.

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

N. Baena, S. Derdak, X. de la Cruz, 2020, bioRxiv.

The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome

A. Jeyaprakash, M. Segura, Stefan Hümmer, 2021, Frontiers in Neuroscience.

Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience

A. Riera-Mestre, P. Cerdà, A. Padró-Miquel, 2023, Genes.

Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome

N. Baena, S. Derdak, E. Gabau, 2018, Molecular genetics & genomic medicine.

New genetic drivers in hemorrhagic hereditary telangiectasia.

M. Graupera, P. Cerdà, A. Iriarte, 2023, European journal of internal medicine.