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Publications by Helen V. Firth

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

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

American Journal of Human Genetics

English

Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val

American Journal of Medical Genetics, Part A

English

A Syndromic Form of Pierre Robin Sequence Is Caused by 5q23 Deletions Encompassing FBN2 and PHAX

European Journal of Medical Genetics

English

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

English

Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

American Journal of Human Genetics

English

Confirmation of Diagnosis

English