Alexander Jm Dingemans

5PUBLICATIONS
183CO-AUTHORS
Gene mappingEpigenetics (incl. genome methylation and epigenomics)Language documentation and descriptionGenomics and transcriptomicsOpen access
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Publications (5)

|Mar 05, 2026
Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants.

Evi Andriessen, Elke de Boer, Gholson J Lyon

|Mar 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.

Lauren Rekerle, Daniel Danis, Filip Rehburg

|Mar 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases.

Leonardo Chimirri, J Harry Caufield, Yasemin Bridges

|Nov 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world.

Michael A Gargano, Nicolas Matentzoglu, Ben Coleman

|Jan 13, 2021
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.

Alexander J M Dingemans, Diante E Stremmelaar, Lisenka E L M Vissers

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Frequent Collaborators

4 joint publications

Bert Ba de Vries

3 joint publications

Melissa A Haendel

3 joint publications

Peter N Robinson

3 joint publications

Justin Reese