Matias Wagner

Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohort

The paper uses fibroblast RNA-seq to improve molecular diagnosis in dystonia patients by identifying RNA expression and splicing defects missed by genomic sequencing.

Systematic assessment of rare and de novo structural variants in 57 patient-parent trios using optical genome mapping

This study uses optical genome mapping to identify de novo and rare inherited structural variants in 57 patient-parent trios, finding 13 de novo SVs and 11 rare inherited SVs, some of which are pathogenic or candidate disease-causing.

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

This study identifies IFT74 variants causing skeletal ciliopathy and motile cilia defects in humans and mice, revealing functional differences between motile and primary cilia.

A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2

The paper identifies a novel syndrome caused by the gain-of-function variant p.Glu1099Lys in NSD2, leading to distinct clinical features compared to loss-of-function variants.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

GestaltMatcher improves diagnosis of ultra-rare genetic disorders by matching facial phenotypes to molecular diagnoses using a deep learning model trained on a large dataset of patient photographs.

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.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

The paper identifies and functionally characterizes new ATAD3A variants in neurological disorders using exome sequencing and Drosophila models.