Heather C. Mefford

Medical Genetics | Pediatrics

262 Danny Thomas Pl
Memphis, TN 38105

Last Updated: 09/26/2026

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Found 219 publications

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: May 07, 2026

Toward a Disease-Modifying Therapy for Dravet Syndrome.

Toward a Disease-Modifying Therapy for Dravet Syndrome.

Journal: The New England journal of medicine

Published: March 04, 2026

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Journal: Genome medicine

Published: January 20, 2026

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 26, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.

Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.

Journal: Annals of neurology

Published: May 21, 2025

Patient-derived models of UBA5-associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenues.

Patient-derived models of UBA5-associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenues.

Journal: Science translational medicine

Published: May 07, 2025

Biallelic ACSF3 variants with combined malonic and methylmalonic acidemia and associated developmental epileptic encephalopathy phenotype: A novel genotype-phenotype correlation.

Biallelic ACSF3 variants with combined malonic and methylmalonic acidemia and associated developmental epileptic encephalopathy phenotype: A novel genotype-phenotype correlation.

Journal: Seizure

Published: April 16, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: April 16, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 01, 2025

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.

Journal: bioRxiv : the preprint server for biology

Published: March 31, 2025

Showing 1-12 of 219

Last Updated: 09/26/2026