Claudia Ruivenkamp

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndrome

Expansion and mechanistic insights into <i>de novo</i> DEAF1 variants in <i>DEAF1</i>-associated neurodevelopmental disorders

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

DLG4-related synaptopathy: a new rare brain disorder

<i>CSNK2B</i>: A broad spectrum of neurodevelopmental disability and epilepsy severity

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

<i>KCND2</i> variants associated with global developmental delay differentially impair Kv4.2 channel gating

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Delineating the <i>GRIN1</i> phenotypic spectrum

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Central 22q11.2 deletions

Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature

Different mutations in <i>PDE4D</i> associated with developmental disorders with mirror phenotypes