Lut Van Laer

Antwerpen, VLG, Belgium

Last Updated: 09/26/2026

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Found 81 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

Phenotypic spectrum of the first Belgian MYBPC3 founder: a large multi-exon deletion with a varying phenotype.

Phenotypic spectrum of the first Belgian MYBPC3 founder: a large multi-exon deletion with a varying phenotype.

Journal: Frontiers in genetics

Published: February 27, 2024

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Journal: Genome medicine

Published: January 26, 2024

Variants in structural cardiac genes in patients with cancer therapy-related cardiac dysfunction after anthracycline chemotherapy: a case control study.

Variants in structural cardiac genes in patients with cancer therapy-related cardiac dysfunction after anthracycline chemotherapy: a case control study.

Journal: Cardio-oncology (London, England)

Published: January 03, 2024

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

Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier.

Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier.

Journal: Frontiers in genetics

Published: July 02, 2023

Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation.

Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation.

Journal: Stem cell research

Published: February 09, 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

Generation of a human TGFB3-hIPSC line, BBANTWi010-A, from a Loeys-Dietz syndrome type V patient.

Generation of a human TGFB3-hIPSC line, BBANTWi010-A, from a Loeys-Dietz syndrome type V patient.

Journal: Stem cell research

Published: August 05, 2022

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.

Journal: Orphanet journal of rare diseases

Published: July 19, 2022

varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.

varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.

Journal: Bioinformatics (Oxford, England)

Published: February 13, 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

Showing 1-12 of 81

Last Updated: 09/26/2026