Nele Boeckx

Antwerpen, VLG, Belgium

Last Updated: 09/26/2026

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Found 15 publications

Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients.

Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients.

Journal: European journal of human genetics : EJHG

Published: December 10, 2025

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

Journal: NPJ genomic medicine

Published: December 01, 2023

RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease.

RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease.

Journal: Clinical genetics

Published: October 26, 2023

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.

Journal: Journal of medical genetics

Published: January 17, 2023

Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges.

Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges.

Journal: Diagnostics (Basel, Switzerland)

Published: January 11, 2023

Genetic association analysis of 77,539 genomes reveals rare disease etiologies.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies.

Journal: Nature medicine

Published: October 21, 2022

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.

Journal: Journal of medical genetics

Published: June 29, 2022

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.

Journal: Human mutation

Published: January 24, 2022

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.

Journal: European journal of human genetics : EJHG

Published: October 31, 2018

Mutation and Methylation Analysis of Circulating Tumor DNA Can Be Used for Follow-up of Metastatic Colorectal Cancer Patients.

Mutation and Methylation Analysis of Circulating Tumor DNA Can Be Used for Follow-up of Metastatic Colorectal Cancer Patients.

Journal: Clinical colorectal cancer

Published: December 15, 2017

Effect of Primary Tumor Location on Second- or Later-line Treatment Outcomes in Patients With RAS Wild-type Metastatic Colorectal Cancer and All Treatment Lines in Patients With RAS Mutations in Four Randomized Panitumumab Studies.

Effect of Primary Tumor Location on Second- or Later-line Treatment Outcomes in Patients With RAS Wild-type Metastatic Colorectal Cancer and All Treatment Lines in Patients With RAS Mutations in Four Randomized Panitumumab Studies.

Journal: Clinical colorectal cancer

Published: December 04, 2017

pyAmpli: an amplicon-based variant filter pipeline for targeted resequencing data.

pyAmpli: an amplicon-based variant filter pipeline for targeted resequencing data.

Journal: BMC bioinformatics

Published: September 05, 2017

Showing 1-12 of 15

Last Updated: 09/26/2026