Dagmar Wieczorek

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

Biallelic variants in YRDC cause a developmental disorder with progeroid features

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

Genetics of intellectual disability in consanguineous families

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

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

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

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

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

The epilepsy phenotypic spectrum associated with a recurrent <i>CUX2</i> variant

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

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

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome