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Publications by Helen Waller-Evans

Bi-Allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

American Journal of Human Genetics

English

Endolysosomal Calcium Regulation and Disease

Biochemical Society Transactions

English

Related publications

Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy

American Journal of Human Genetics

English

De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features

Cold Spring Harbor molecular case studies

Molecular Medicine

English

Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

American Journal of Human Genetics

English

Bi-Allelic Inactivating Variants in the COCH Gene Cause Autosomal Recessive Prelingual Hearing Impairment

European Journal of Human Genetics

English

RINT1 Bi-Allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities

American Journal of Human Genetics

English

Bi-Allelic TMEM94 Truncating Variants Are Associated With Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

American Journal of Human Genetics

English

A Review of the Genomic Analysis of Children Presenting With Developmental Delay/Intellectual Disability and Associated Dysmorphic Features

English

Developmental Delay, Coarse Facial Features, and Epilepsy in a Patient With EXT2 Gene Variants

Clinical Case Reports

English

Attention-Deficit/Hyperactivity Disorder (ADHD): A Review of Neuroscientific Evidence of Developmental Delay and Dysfunction

Journal of Systems and Integrative Neuroscience

English