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Publications by Elizabeth Sweeney

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

American Journal of Human Genetics

English

Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

American Journal of Human Genetics

English

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

American Journal of Human Genetics

English

brainR: Interactive 3 and 4D Images of High Resolution Neuroimage Data

Numerical Analysis

English

Freesurfer: Connecting the Freesurfer Software With R

Molecular Biology

English

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

American Journal of Human Genetics

English