Heather Mefford

22PUBLICATIONS
289CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)HaematologyNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Cell and nuclear division
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Publications (22)

|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

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Jul 15, 2025
The Association Between Sleep Phenotypes and Epilepsy Genes.

Jonathan Read Gaillard, Gita Gupta, Heather C Mefford

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Frequent Collaborators

9 joint publications

Christy W LaFlamme

6 joint publications

Ingrid E Scheffer

5 joint publications

Talia J Allan

5 joint publications

Samuel F Berkovic