Alma Kuechler

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

Systematic analysis and prediction of genes associated with disorders on chromosome X

The paper systematically analyzes chrX genes to predict disease associations, identifying 235 genes likely involved in disorders and reporting damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism.

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

The paper evaluates negative exome sequencing in neurodevelopmental disorders by systematically scoring candidate genes to improve prioritization and validation.