Nienke E. Verbeek

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

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

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

<i>ATP6V0C</i> variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

The different clinical facets of SYN1-related neurodevelopmental disorders

<i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Treatment Responsiveness in KCNT1-Related Epilepsy

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

The landscape of epilepsy-related GATOR1 variants

<i>GRIN2A</i> -related disorders: genotype and functional consequence predict phenotype

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in <i><scp>SCN</scp>1A</i>‐related seizure phenotypes

Mosaicism of de novo pathogenic <i><scp>SCN</scp>1A</i> variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Outcomes and comorbidities of SCN1A-related seizure disorders

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

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

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Neurodevelopmental Disorders Caused by De Novo Variants in <i>KCNB1 </i>Genotypes and Phenotypes

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Exome sequencing identifies <i>DYNC2H1</i> mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement