Christiane Zweier

SysNDD: A Systematic Database for Neurodevelopmental Disorders

SysNDD is a curated database of gene-disease associations for neurodevelopmental disorders, providing standardized evidence and annotations for 4,275 entities from 4,932 publications.

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms

The paper identifies de novo LDB1 variants linked to distinct neurodevelopmental phenotypes based on variant location and pathomechanisms, confirmed through in vitro and in vivo studies.

CFTR Gene Variant Detection in Moroccan Individuals via Nanopore Long-Read Sequencing

This paper uses nanopore long-read sequencing to detect CFTR variants in Moroccan individuals, identifying new pathogenic variants and demonstrating the utility of the method for genetic screening in African populations.

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

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland

SwissGenVar is a platform for sharing and interpreting genetic variants to improve clinical decision-making in Switzerland by harmonizing variant significance assessment and integrating clinical data.

Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

This study characterizes 29 individuals with FOXP2 variants, showing high prevalence of speech disorders and language impairments, with relatively specific phenotypes compared to other monogenic conditions.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.

Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?

The paper describes prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compares their clinical and genetic data to previous studies, highlighting the need for accurate variant classification.

A hundred genes implicated in intellectual disability and autism regulate habituation learning and reveal an opposing role for Ras-MAPK signaling in inhibitory and excitatory neurons

The paper identifies over 100 genes linked to intellectual disability and autism that regulate habituation learning, revealing opposing roles for Ras-MAPK signaling in inhibitory and excitatory neurons.