Bert A. De Vries

Nijmegen, GE 6525GA, Netherlands

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 184 publications

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Journal: American journal of human genetics

Published: March 11, 2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Journal: American journal of human genetics

Published: February 06, 2026

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants.

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants.

Journal: Clinical genetics

Published: January 23, 2026

De novo variants in ATP2B1 lead to neurodevelopmental delay.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Journal: American journal of human genetics

Published: November 12, 2025

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.

De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.

Journal: Genome medicine

Published: August 05, 2025

A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study.

A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study.

Journal: Clinical epigenetics

Published: April 11, 2025

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.

Journal: American journal of human genetics

Published: April 08, 2025

Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases.

Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases.

Journal: EBioMedicine

Published: March 16, 2025

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: ArXiv

Published: February 24, 2025

Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome.

Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome.

Journal: Molecular psychiatry

Published: November 27, 2024

GraphPPL.jl: A Probabilistic Programming Language for Graphical Models.

GraphPPL.jl: A Probabilistic Programming Language for Graphical Models.

Journal: Entropy (Basel, Switzerland)

Published: September 19, 2024

Showing 1-12 of 184

Last Updated: 09/26/2026