Lynne M. Bird

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

Diazoxide Choline Extended-release Tablets in Prader-Willi Syndrome: A Randomized, Double-blind, Withdrawal Period Study

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

7519 Withdrawal of DCCR (Diazoxide Choline) Extended-Release Tablets Worsens Hyperphagia and Increases Weight and BMI in a 16-week Double-blind, Placebo-controlled, Randomized Withdrawal Period in Patients with Prader Willi Syndrome

Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial

Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)

Diazoxide choline extended‐release tablet in people with <scp>Prader‐Willi</scp> syndrome: results from long‐term open‐label study

Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition

Characterization of the prenatal renal phenotype associated with 17q12, <i>HNF1B</i>, microdeletions

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics

Longitudinal EEG model detects antisense oligonucleotide treatment effect and increased UBE3A in Angelman syndrome

The <i>MAP3K7</i> gene: Further delineation of clinical characteristics and genotype/phenotype correlations

A dyadic approach to the delineation of diagnostic entities in clinical genomics

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III

Delta power robustly predicts cognitive function in Angelman syndrome

Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes

Electrophysiological Abnormalities in Angelman Syndrome Correlate With Symptom Severity

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model

Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes

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

Rare <i>SUZ12</i> variants commonly cause an overgrowth phenotype