Wouter Koole

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 18 publications

Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case report.

Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case report.

Journal: European journal of human genetics : EJHG

Published: April 28, 2026

Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.

Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.

Journal: BMJ neurology open

Published: November 11, 2025

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

Journal: Human genetics

Published: October 07, 2025

Prevalence of germline pathogenic variants in 779 patients with metastatic prostate cancer.

Prevalence of germline pathogenic variants in 779 patients with metastatic prostate cancer.

Journal: BJU international

Published: September 02, 2025

Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance.

Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance.

Journal: Journal of medical genetics

Published: August 21, 2025

An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2.

An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2.

Journal: European journal of human genetics : EJHG

Published: November 08, 2024

Patients' experiences with pre-test genetic counseling provided by breast cancer healthcare professionals: Results from a large prospective multicenter study.

Patients' experiences with pre-test genetic counseling provided by breast cancer healthcare professionals: Results from a large prospective multicenter study.

Journal: Breast (Edinburgh, Scotland)

Published: February 10, 2023

Surgical Oncologists and Nurses in Breast Cancer Care are Ready to Provide Pre-Test Genetic Counseling.

Surgical Oncologists and Nurses in Breast Cancer Care are Ready to Provide Pre-Test Genetic Counseling.

Journal: Annals of surgical oncology

Published: November 16, 2022

Mainstream germline genetic testing for patients with epithelial ovarian cancer leads to higher testing rates and a reduction in genetics-related healthcare costs from a healthcare payer perspective.

Mainstream germline genetic testing for patients with epithelial ovarian cancer leads to higher testing rates and a reduction in genetics-related healthcare costs from a healthcare payer perspective.

Journal: Gynecologic oncology

Published: May 12, 2022

Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants.

Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants.

Journal: Cancers

Published: April 14, 2021

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.

Journal: Journal of clinical immunology

Published: August 25, 2020

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.

Journal: Journal of medical genetics

Published: January 14, 2020

Showing 1-12 of 18

Last Updated: 09/26/2026