Yolande Van Bever

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 48 publications

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Journal: European journal of human genetics : EJHG

Published: March 24, 2025

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Journal: HGG advances

Published: February 27, 2025

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: February 13, 2025

Functional analysis of SRY variants in individuals with 46,XY differences of sex development.

Functional analysis of SRY variants in individuals with 46,XY differences of sex development.

Journal: Molecular and cellular endocrinology

Published: November 03, 2024

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

Journal: HGG advances

Published: September 05, 2024

Genome-wide methylation analysis in patients with proximal hypospadias - a pilot study and review of the literature.

Genome-wide methylation analysis in patients with proximal hypospadias - a pilot study and review of the literature.

Journal: Epigenetics

Published: August 16, 2024

Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency.

Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency.

Journal: European journal of endocrinology

Published: June 14, 2024

Response to letter to the editor: 'Gonadal tumour screening in XY gonadal dysgenesis'.

Response to letter to the editor: 'Gonadal tumour screening in XY gonadal dysgenesis'.

Journal: Clinical endocrinology

Published: January 29, 2024

Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.

Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.

Journal: European journal of endocrinology

Published: September 19, 2023

Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins.

Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins.

Journal: Laboratory investigation; a journal of technical methods and pathology

Published: April 11, 2023

Undetectable anti-Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis.

Undetectable anti-Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis.

Journal: Clinical endocrinology

Published: February 11, 2023

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.

Journal: Human mutation

Published: October 11, 2022

Showing 1-12 of 48

Last Updated: 09/26/2026