Amy Schneider

14PUBLICATIONS
228CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Infant and child healthDevelopmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (14)

|Aug 06, 2026
Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings in STXBP1 Encephalopathy.

|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

|Mar 14, 2025
Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy.

Marlene Rong, Paula T Marques, Quratulain Zulfiqar Ali

|Feb 11, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.

Christy W LaFlamme, Karim Karimi, Cassandra Rastin

|Aug 06, 2024
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

Christy W LaFlamme, Cassandra Rastin, Soham Sengupta

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Frequent Collaborators

7 joint publications

Ingrid E Scheffer

5 joint publications

Samuel F Berkovic

4 joint publications

Christy W LaFlamme

4 joint publications

Heather C Mefford