Christy W LaFlamme

10PUBLICATIONS
176CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)HaematologyNeurology and neuromuscular diseasesMedical devicesEpigenetics (incl. genome methylation and epigenomics)
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Publications (10)

|May 07, 2026
Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

|May 01, 2026
High-resolution single-cell mapping of clonal hematopoiesis and structural variation in aplastic anemia.

|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 UBA5-associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenues.

Helen Chen, Christy W LaFlamme, Yong-Dong Wang

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

Christy W LaFlamme, Karim Karimi, Cassandra Rastin

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Frequent Collaborators

9 joint publications

Heather C Mefford

5 joint publications

Talia J Allan

4 joint publications

Soham Sengupta

4 joint publications

Samuel F Berkovic