List of works - Lut Van Laer

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.

scientific article published in February 2018

A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation

scientific article

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature

scientific article published on 23 January 2019

Arterial tortuosity syndrome: 40 new families and literature review

scientific article

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.

scientific article

Cardiogeneticsbank@UZA: A Collection of DNA, Tissues, and Cell Lines as a Translational Tool

scientific article published on 06 September 2019

Clinical characterization of the first Belgian SCN5A founder mutation cohort

scientific article published on 22 November 2020

Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report

scientific article published on 24 July 2020

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

scientific article published on 22 February 2019

Correction: Arterial tortuosity syndrome: 40 new families and literature review

scientific article published on 01 August 2019

Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy

scientific article

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

scientific article published on 7 September 2020

Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

scientific article published on 08 September 2020

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

scientific article published on 08 August 2018

Familial aggregation of pure tone hearing thresholds in an aging European population

scientific article published on July 2013

GRM7 variants confer susceptibility to age-related hearing impairment

scientific article

Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait

scientific article published on 28 August 2008

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

scientific article

Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome

scientific article published on 28 May 2018

Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.

scientific article published on 11 October 2016

Intermittent Brugada syndrome in an anorexic adolescent girl

scientific article published on 22 July 2014

Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.

scientific article published on 9 October 2017

Loeys-Dietz syndrome

scientific article

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

scientific article published on 15 September 2016

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

scientific article published on 02 July 2018

Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study

scientific article

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

article

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

article by Ingrid M B H van de Laar et al published 13 December 2011 in Journal of Medical Genetics

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

scientific article published on 19 November 2018

Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature

scientific article

Spontaneous Coronary Artery Dissection in a Man With a Novel Missense Mutation in SMAD2 Treated by Optical Coherence Tomography-Guided Percutaneous Coronary Intervention

scientific article published on 15 November 2018

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease

article

The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss

scientific article published in October 2007

The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment

scientific article published on 6 October 2007

pBRIT: Gene Prioritization by Correlating Functional and Phenotypic Annotations Through Integrative Data Fusion

scientific article published on 14 February 2018

List of works by Lut Van Laer

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.

A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation

Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature

Arterial tortuosity syndrome: 40 new families and literature review

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.

Cardiogeneticsbank@UZA: A Collection of DNA, Tissues, and Cell Lines as a Translational Tool

Clinical characterization of the first Belgian SCN5A founder mutation cohort

Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report

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

Correction: Arterial tortuosity syndrome: 40 new families and literature review

Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

Familial aggregation of pure tone hearing thresholds in an aging European population

GRM7 variants confer susceptibility to age-related hearing impairment

Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome

Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.

Intermittent Brugada syndrome in an anorexic adolescent girl

Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.

Loeys-Dietz syndrome

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature

Spontaneous Coronary Artery Dissection in a Man With a Novel Missense Mutation in SMAD2 Treated by Optical Coherence Tomography-Guided Percutaneous Coronary Intervention

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease

The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss

The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment

pBRIT: Gene Prioritization by Correlating Functional and Phenotypic Annotations Through Integrative Data Fusion