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Publications by Matthew E. Hurles

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

American Journal of Human Genetics

English

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

American Journal of Human Genetics

English

Molecular Autopsy by Trio Exome Sequencing (ES) and Postmortem Examination in Fetuses and Neonates With Prenatally Identified Structural Anomalies

Genetics in Medicine

English

Paternal Exposure to Benzo(a)pyrene Induces Genome-Wide Mutations in Mouse Offspring

Communications Biology

Molecular Biology

Biological Sciences

English

Integrating Healthcare and Research Genetic Data Empowers the Discovery of 49 Novel Developmental Disorders

English

The Functional Impact of Structural Variation in Humans

Trends in Genetics

English