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Publications by Katherine L. Helbig

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American Journal of Human Genetics

English

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

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

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

American Journal of Human Genetics

English

Biallelic VARS Variants Cause Developmental Encephalopathy With Microcephaly That Is Recapitulated in Vars Knockout Zebrafish

Nature Communications

Molecular Biology

English

Clinical Spectrum of STX1B-related Epileptic Disorders

English

Delineating the GRIN1 Phenotypic Spectrum

English

De Novo ITPR1 Variants Are a Recurrent Cause of Early-Onset Ataxia, Acting via Loss of Channel Function

European Journal of Human Genetics

English