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Publications by Heather C. Mefford

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics

English

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics

English

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics

English

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics

English

Rare Copy Number Variants Are an Important Cause of Epileptic Encephalopathies

Annals of Neurology

English

Contribution of Ultrarare Variants in mTOR Pathway Genes to Sporadic Focal Epilepsies

Annals of Clinical and Translational Neurology

English

Epileptic Spasms Are a Feature ofDEPDC5mTORopathy

Neurology: Genetics

English

Pitfalls in Genetic Testing: The Story of missedSCN1Amutations

Molecular genetics & genomic medicine

Molecular Biology

English