Cornelia S. Kraus

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets

This study performs a GWAS meta-analysis of psoriasis, identifying 109 susceptibility loci, including 45 new ones, and highlights potential therapeutic targets and disease mechanisms.

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.

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study

The paper identifies pathogenic variants in tubulointerstitial kidney disease genes in 12.5% of a CKD cohort using targeted sequencing and clinical criteria.

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.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

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.

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

The paper identifies and characterizes TUBA1A variants in 166 individuals with tubulinopathy, highlighting common phenotypes and genotype-phenotype associations.

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium

The paper analyzes genetic integrity in iPSCs from the ForIPS consortium, identifying somatic variants and highlighting the need for individual clone evaluation.