Johan T den Dunnen
9PUBLICATIONS
23CO-AUTHORS
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Publications (9)
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|Dec 20, 2024
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.Reece K Hart, Ivo F A C Fokkema, Marina DiStefano
|Nov 27, 2021
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.Benjamin Billiet, Patrizia Amati-Bonneau, Valérie Desquiret-Dumas
|Aug 27, 2021
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.Pleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans
|Aug 06, 2021
ACO2 clinicobiological dataset with extensive phenotype ontology annotation.Khadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau
|May 13, 2021
Stepwise ABC system for classification of any type of genetic variant.Gunnar Houge, Andreas Laner, Sebahattin Cirak
|Aug 10, 2019
Efficient variant data preparation for Human Mutation manuscripts: Variants and phenotypes.Johan T den Dunnen
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Frequent Collaborators
2 joint publications
Guy Lenaers
2 joint publications
Pascal Reynier
2 joint publications
Marc Ferré
1 joint publications
Stefan J White
1 joint publications
Rick Jansen
1 joint publications
Lude Franke
1 joint publications
Szymon M Kiełbasa
1 joint publications
Peter A C 't Hoen
1 joint publications
Gunnar Houge
1 joint publications
Pleuntje J van der Sluijs
