Steven A. Skinner

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

MEF2C regulates NK cell effector functions through control of lipid metabolism

Clinical Features and Disease Progression in Older Individuals with Rett Syndrome

MECP2 Variants in Males: More Common than Previously Appreciated

Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study

Distribution of hand function by age in individuals with Rett syndrome

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in <i>VCP</i>

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes

A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome

Lessons learned from 40 novel <i>PIGA</i> patients and a review of the literature

A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

Hand stereotypies

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Biliary Tract Disease in Girls and Young Women With Rett Syndrome

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

The array of clinical phenotypes of males with mutations in <i>Methyl‐CpG binding protein 2</i>

The course of awake breathing disturbances across the lifespan in Rett syndrome

Behavioral profiles in Rett syndrome: Data from the natural history study

When Rett syndrome is due to genes other than <i>MECP2</i>

Longitudinal course of epilepsy in Rett syndrome and related disorders

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders