Vicente A. Yepez

Garching Bei Munchen, BY, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 36 publications

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics

Published: January 06, 2026

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Journal: Annals of neurology

Published: September 24, 2025

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1.

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1.

Journal: American journal of medical genetics. Part A

Published: September 09, 2025

Multi-Omics Characterization of a KIF1C Structural Variant in a Patient with a Complex Movement Disorder Partially Responsive to Deep Brain Stimulation.

Multi-Omics Characterization of a KIF1C Structural Variant in a Patient with a Complex Movement Disorder Partially Responsive to Deep Brain Stimulation.

Journal: Cerebellum (London, England)

Published: August 10, 2025

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

Journal: American journal of human genetics

Published: July 14, 2025

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Journal: Nature genetics

Published: April 11, 2025

Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy.

Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy.

Journal: Neuromuscular disorders : NMD

Published: March 11, 2025

PROTRIDER: protein abundance outlier detection from mass spectrometry-based proteomics data with a conditional autoencoder.

PROTRIDER: protein abundance outlier detection from mass spectrometry-based proteomics data with a conditional autoencoder.

Journal: Bioinformatics (Oxford, England)

Published: February 03, 2025

Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

Journal: European journal of human genetics : EJHG

Published: December 10, 2024

An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.

An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.

Journal: NPJ genomic medicine

Published: December 04, 2024

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Journal: Nature genetics

Published: October 21, 2024

Aberrant gene expression prediction across human tissues.

Aberrant gene expression prediction across human tissues.

Journal: Nature communications

Published: October 08, 2024

Showing 1-12 of 36

Last Updated: 09/26/2026