Martin A. Mensah
Anna Louisa Karsch Str. 2
Berlin, BE 10178, Germany
Berlin, BE 10178, Germany
Last Updated: 09/26/2026
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Found 36 publications
Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.
Journal: American journal of medical genetics. Part A
Published: April 29, 2026
Foundation artificial intelligence models enable high-accuracy diagnostic differentiation of hybrid neurofibroma/schwannoma using whole-slide images.
Journal: Journal of pathology informatics
Published: March 26, 2026
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Journal: Nature genetics
Published: June 24, 2025
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.
Journal: Nature
Published: August 20, 2024
STIGMA: Single-cell tissue-specific gene prioritization using machine learning.
Journal: American journal of human genetics
Published: March 08, 2024
REEV: review, evaluate and explain variants.
Journal: Nucleic acids research
Published: February 13, 2024
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.
Journal: American journal of medical genetics. Part A
Published: January 22, 2024
STIGMA: Single-cell tissue-specific gene prioritization using machine learning.
Journal: American journal of human genetics
Published: August 04, 2023
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Journal: Nature genetics
Published: July 19, 2023
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Journal: American journal of human genetics
Published: June 10, 2023
Last Updated: 09/26/2026