Cas Simons

The paper identifies immune cell type-specific gene expression regulated by tandem repeats using multi-omics data from large cohorts.

The paper identifies six patients with biallelic IRAK4 variants causing severe neurological autoinflammation without immunodeficiency, expanding the known phenotype of IRAK4-related disease.

This study identifies a homozygous SECISBP2 variant causing lethal perinatal cardiomyopathy through loss of selenoprotein function, including GPX4, and suggests a ferroptosis mechanism.

This study uses proteomics to identify a cryptic JPH2 loss-of-function in a paediatric DCM patient, revealing a novel mechanism of recessive disease.

The Evidence Aggregator (EvAgg) uses generative AI to streamline rare disease diagnostics by extracting and summarizing genetic variant and clinical information from literature, improving efficiency and accuracy.

The paper creates a genome-wide map of homozygous deletions in 125,730 individuals, identifying novel rare disease genes and variants.

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

The paper identifies two non-coding structural variants associated with Axenfeld-Rieger Syndrome, showing how enhancer disruption can cause disease without affecting the PITX2 gene itself.

This study identifies BLOC1S1 variants causing a hypomyelinating leukodystrophy with epileptic encephalopathy, showing impaired lysosomal and autophagic function.

This study shows integrin β1-Talin1 at focal adhesions drive uncontrolled endothelial cell enlargement in CCM vasculature, independent of KLF2/4.

The paper identifies biallelic variants in RNU4-2 causing a recessive neurodevelopmental syndrome with distinct white matter changes, expanding the known genotypic and phenotypic spectrum of RNU4-2-related disorders.

The paper develops an automated tool for reanalyzing genomic data in rare disease cohorts, showing improved diagnostic yields through iterative reanalysis.

This study uses saturation genome editing to analyze RNU4-2 variants, identifying functional impacts and redefining the ReNU syndrome critical region.

The paper identifies a common intronic SVA_E insertion in ASPA as the most frequent pathogenic variant in Canavan disease using long-read sequencing.

The paper evaluates the diagnostic effectiveness of genomic sequencing in mitochondrial diseases using blood samples, finding a 55% diagnostic yield with higher rates in pediatric cases.

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.

The paper identifies a deep intronic MME variant causing CMT through aberrant splicing, highlighting the importance of considering deep intronic variants in CMT diagnosis.

The paper identifies a deep intronic variant in NDUFB10 causing a cryptic exon and isolated Complex I deficiency through RNA sequencing in two affected siblings.

This study identifies heterozygous TMEM63A variants causing transient hypomyelination in infancy, with clinical improvement over time.