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)

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|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

Christy W LaFlamme

Ingrid E Scheffer

Talia J Allan

Samuel F Berkovic

Edith P Almanza Fuerte

Michael S Hildebrand

Amy Schneider

Nicolas Chatron

Gaetan Lesca

Soham Sengupta

Frequent Collaborators

Christy W LaFlamme

Ingrid E Scheffer

Talia J Allan

Samuel F Berkovic