Edith P Almanza Fuerte
4PUBLICATIONS
123CO-AUTHORS
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Publications (4)
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|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
|Nov 19, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.Annie T G Chiu, Mark F Bennett, Harshini Thiyagarajah
|May 07, 2025
Patient-derived models of <i>UBA5-</i>associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenues.Helen Chen, Christy W LaFlamme, Yong-Dong Wang
|Oct 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.Christy W LaFlamme, Cassandra Rastin, Soham Sengupta
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Frequent Collaborators
4 joint publications
Christy W LaFlamme
4 joint publications
Heather C Mefford
3 joint publications
Soham Sengupta
3 joint publications
Talia J Allan
2 joint publications
Ingrid E Scheffer
2 joint publications
Emily S Bonkowski
2 joint publications
Samuel F Berkovic
2 joint publications
Amy Schneider
2 joint publications
Gaetan Lesca
2 joint publications
Nicolas Chatron
