Johan T. Den Dunnen
Leiden, ZH, Netherlands
Last Updated: 09/26/2026
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Found 106 publications
Standardizing variant naming in literature with VariantValidator to increase diagnostic rates.
Journal: Nature genetics
Published: October 02, 2024
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.
Journal: Genome medicine
Published: August 26, 2024
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
Journal: medRxiv : the preprint server for health sciences
Published: May 15, 2024
Comparison of the ABC and ACMG systems for variant classification.
Journal: European journal of human genetics : EJHG
Published: December 19, 2023
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Journal: Blood cells, molecules & diseases
Published: October 29, 2022
Human Mutation special issue on "Variant Effect Prediction".
Journal: Human mutation
Published: June 30, 2022
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD).
Journal: International journal of molecular sciences
Published: November 27, 2021
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
Journal: Human mutation
Published: June 21, 2021
The Role of the European Society of Human Genetics in Delivering Genomic Education.
Journal: Frontiers in genetics
Published: April 12, 2021
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Journal: European journal of human genetics : EJHG
Published: March 12, 2021
Last Updated: 09/26/2026