Vicente A Yépez

15PUBLICATIONS
133CO-AUTHORS
Regenerative medicine (incl. stem cells)Genetics not elsewhere classifiedGene expression (incl. microarray and other genome-wide approaches)Cardiovascular medicine and haematology not elsewhere classifiedDevelopmental genetics (incl. sex determination)
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Publications (15)

|Dec 15, 2025
RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1.

Jana van der Westhuizen, Vicente A Yépez, Shahida Moosa

|Sep 09, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Vicente A Yépez, German Demidov, Kornelia Ellwanger

|Mar 29, 2025
Aberrant gene expression prediction across human tissues.

Florian R Hölzlwimmer, Jonas Lindner, Georgios Tsitsiridis

|Oct 21, 2024
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan

|Jul 27, 2024
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.

Alba Segarra-Casas, Vicente A Yépez, German Demidov

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