L. Van Laer

发表

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

Ilmari Pyykkö, Elina Mäki-Torkko, Vedat Topsakal, 2008, Journal of the Association for Research in Otolaryngology.

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

Y. Okazaki, P. Govaert, B. Loeys, 2015, American journal of human genetics.

Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility.

B. Loeys, L. Van Laer, Elisabeth Gillis, 2013, Circulation research.

Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy

H. Heidbuchel, P. Pauwels, B. Loeys, 2022, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

A dominant-negative GFI1B mutation in the gray platelet syndrome.

M. Kempers, J. Jansen, E. Fransen, 2013, New England Journal of Medicine.

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

G. Pals, S. Bierma-Zeinstra, J. Timmermans, 2011, Journal of Medical Genetics.

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

Michelle S. Miller, G. Mortier, M. Simpson, 2014, European Journal of Human Genetics.

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

J. Timmermans, M. Kempers, D. Micha, 2018, Journal of Medical Genetics.

Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

M. Hurles, A. McCallion, A. Franco‐Cereceda, 2019, Nature Genetics.

TGF-β signalopathies as a paradigm for translational medicine.

B. Loeys, L. Van Laer, A. Verstraeten, 2015, European journal of medical genetics.

Aggressive Cardiovascular Phenotype of Aneurysms-osteoarthritis Syndrome Caused by Pathogenic Smad3 Variants

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2022 .

The Contribution of GJB2 (Connexin 26) 35delG to Age-Related Hearing Impairment and Noise-Induced Hearing Loss

T. Wienker, C. Cremers, P. van de Heyning, 2007, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Autosomal recessive nonsyndromic hearing loss.

G. Van Camp, G. Camp, R. Smith, 1999, American journal of medical genetics.

Comparison of biomechanical properties in ascending aortic aneurysms of patients with congenital bicuspid aortic valve and Marfan syndrome.

A. McCallion, A. Franco‐Cereceda, H. Dietz, 2019, International journal of cardiology.

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

M. Brown, M. Marshall, B. Gardiner, 2013, BoneKEy reports.

Educational paper

B. Loeys, L. Van Laer, D. Proost, 2012, European Journal of Pediatrics.

Marfan syndrome: from gene to therapy

B. Loeys, L. Van Laer, N. Bolar, 2012, Current opinion in pediatrics.

Loeys-Dietz Syndrome.

H. Dietz, B. Loeys, L. Van Laer, 2021, Advances in experimental medicine and biology.

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.

A. F. Scott, D. Milewicz, H. Dietz, 2018, Journal of the American College of Cardiology.

Loeys-Dietz syndrome.

H. Dietz, B. Loeys, L. Van Laer, 2014, Advances in experimental medicine and biology.

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

B. Loeys, M. Alaerts, L. Van Laer, 2017, Annals of cardiothoracic surgery.

Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history

W. Wuyts, J. Hendriks, B. Loeys, 2017, Clinical Genetics.

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

G. Mortier, H. Dietz, W. Wuyts, 2016, Genetics in Medicine.

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.

Anthony R. Dallosso, J. Rosenfeld, A. Pagnamenta, 2021, American journal of human genetics.

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

N. Samani, T. Webb, M. Kempers, 2021, International journal of molecular sciences.

Clinical characterization of the first Belgian SCN5A founder mutation cohort.

H. Heidbuchel, G. Mortier, C. Vrints, 2020, Europace.

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

B. Suys, A. Corveleyn, B. Loeys, 2018, European Journal of Medical Genetics.

Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy

H. Heidbuchel, B. Loeys, I. Rodrigus, 2018, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population

J. Economides, A. Pampanos, G. Van Camp, 2008, American journal of medical genetics. Part A.

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

G. Mortier, H. Morisaki, B. Loeys, 2019, Bone.

Autosomal dominant nonsyndromic hearing impairment.

G. Van Camp, W. McGuirt, R. Smith, 1999, American journal of medical genetics.

Mutations in the TGF-β Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm

Seneca L. Bessling, A. McCallion, M. Caulfield, 2012, Nature Genetics.

Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement.

G. Mortier, M. Jelusic, L. Van Laer, 2014, Seminars in arthritis and rheumatism.

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

M. Macek, B. Loeys, A. Van Berendoncks, 2022, Human mutation.

Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.

G. Mortier, N. Al-Sannaa, L. Van Laer, 2020, European journal of medical genetics.

Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum

A. De Paepe, A. Váradi, V. Pomozi, 2011, Cell cycle.

Prevalence of tinnitus and audiometric shape.

G Van Camp, E Fransen, A van Wieringen, 2007, B-ENT.

A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.

V. Sheffield, D. Nishimura, G. Van Camp, 1996, Human molecular genetics.

DFNA5: hearing impairment exon instead of hearing impairment gene?

D. V. van Bockstaele, J. Timmermans, G. Van Camp, 2004, Journal of Medical Genetics.

A Novel Mutation Identified in the DFNA5 Gene in a Dutch Family: A Clinical and Genetic Evaluation

C. Cremers, H. Kremer, F. Cremers, 2003, Audiology and Neurotology.

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.

P. Govaert, F. Eyskens, B. Loeys, 2013, Human molecular genetics.

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

T. Wienker, C. Cremers, H. Kremer, 2008, Human molecular genetics.

Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment

T. Wienker, C. Cremers, H. Kremer, 2007, Journal of Medical Genetics.

KCNQ4: a gene for age‐related hearing impairment?

T. Wienker, E. Fransen, V. Topsakal, 2006, Human mutation.

Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease

B. Loeys, M. Alaerts, L. Van Laer, 2018, Clinical genetics.

Mesenchymal state of intimal cells may explain higher propensity to ascending aortic aneurysm in bicuspid aortic valves

A. McCallion, S. Kjellqvist, A. Franco‐Cereceda, 2016, Scientific Reports.

Nonsyndromic Hearing Loss

K. Cryns, Richard J. H. Smith, G. Van Camp, 2003, Ear and hearing.

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.

G. Van Camp, S. Smith, G. Camp, 1997, American journal of human genetics.

Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene

P. Eriksson, H. Dietz, E. Messas, 2019, European Journal of Human Genetics.

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.

F. E. Offeciers, G. Richardson, P. Govaerts, 1998, Nature genetics.

Role of killer cell immunoglobulin-like receptor gene content and human leukocyte antigen-C group in susceptibility to human T-lymphotropic virus 1-associated myelopathy/tropical spastic paraparesis in Peru.

J. Huyghe, G. Vanham, E. Gotuzzo, 2010, Human immunology.

Altered DNA methylation indicates an oscillatory flow mediated epithelial-to-mesenchymal transition signature in ascending aorta of patients with bicuspid aortic valve

A. McCallion, A. Franco‐Cereceda, P. Eriksson, 2018, Scientific Reports.

DFNA5, a Gene Involved in Hearing Loss and Cancer: A Review

G. Van Camp, K. Op de Beeck, L. Van Laer, 2012, The Annals of otology, rhinology, and laryngology.

Characterization of the murine Dfna5 promoter and regulatory regions.

G. Van Camp, K. Vrijens, L. Van Laer, 2009, Gene.

A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment.

S. Kearsey, G. Van Camp, J. Gregan, 2003, Biochimica et biophysica acta.

Further Delineation of the DFNA5 Phenotype: Results of Speech Recognition Tests

G. Van Camp, P. Huygen, L. Van Laer, 2002, The Annals of otology, rhinology, and laryngology.

Refined Mapping of a Gene for Autosomal Dominant Progressive Sensorineural Hearing Loss (DFNA5) to a 2-cM Region, and Exclusion of a Candidate Gene That Is Expressed in the Cochlea

E. Green, P. Van de Heyning, P. Willems, 1997, European journal of human genetics : EJHG.

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

R. Frants, P. Willems, D. van Velzen, 1995, Human molecular genetics.

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

A. Hoischen, G. Mortier, H. Brunner, 2016, American journal of human genetics.

Candidate Gene Association Study for Noise‐induced Hearing Loss in Two Independent Noise‐exposed Populations

J. Huyghe, M. Bondeson, E. Fransen, 2009, Annals of human genetics.

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.

S. Schwartz, C. Lee, C. Morton, 2001, Human molecular genetics.

VariantDB: a flexible annotation and filtering portal for next generation sequencing data

Geert Vandeweyer, Bart Loeys, Lut Van Laer, 2014, Genome Medicine.

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

R. Redon, P. Lambiase, P. Ellinor, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

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

Bart Loeys, Lut Van Laer, G. Mortier, 2018, American journal of human genetics.

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

T. Wienker, C. Cremers, H. Kremer, 2008, American journal of human genetics.

Identification of binding partners interacting with the α1-N-propeptide of type V collagen.

S. Ricard-Blum, A. De Paepe, P. Coucke, 2011, The Biochemical journal.

A common founder for the 35delG GJB2gene mutation in connexin 26 hearing impairment

G. Taylor, E. Fransen, P. Coucke, 2001, Journal of medical genetics.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

Emmanuel Messas, Luc Mertens, Dmytro Zerbino, 2017, Front. Physiol..

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

M. Goumans, K. Devriendt, J. Timmermans, 2015, Journal of the American College of Cardiology.

Thoracic Aortic Aneurysm in Infancy in Aneurysms–Osteoarthritis Syndrome Due to a Novel SMAD3 Mutation: Further Delineation of the Phenotype

L. Garavelli, L. Lovato, E. Fransen, 2013, American journal of medical genetics. Part A.

Analysis of Gene Polymorphisms Associated with K+ Ion Circulation in the Inner Ear of Patients Susceptible and Resistant to Noise‐induced Hearing Loss

E. Fransen, M. Śliwińska-Kowalska, G. Van Camp, 2009, Annals of human genetics.

Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations.

J. Huyghe, M. Bondeson, E. Fransen, 2007, Human molecular genetics.

The contribution of genes involved in potassium‐recycling in the inner ear to noise‐induced hearing loss

M. Bondeson, E. Fransen, D. Snyders, 2006, Human mutation.

A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.

F. E. Offeciers, K. Verhoeven, P. Govaerts, 1997, American journal of human genetics.

The Complexity of Age-Related Hearing Impairment: Contributing Environmental and Genetic Factors

G. Van Camp, L. Van Laer, E. Van Eyken, 2007, Audiology and Neurotology.

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

F. Kortüm, K. Girisha, A. Shukla, 2021, Scientific Reports.

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

M. Simpson, M. Vikkula, R. Trembath, 2012, American journal of human genetics.

Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.

A. Voets, H. Smeets, B. J. van den Bosch, 2011, Mitochondrion.

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.

L. Lagae, J. Casanova, G. Mortier, 2017, The Journal of clinical investigation.

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

B. Loeys, S. Temel, L. Van Laer, 2019, Connective tissue research.

ROBO4 Variants Predispose Individuals to Bicuspid Aortic Valve and Thoracic Aortic Aneurysm

Russell A. Gould, Christopher L. Bennett, J. Lupski, 2018, Nature Genetics.

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

B. Loeys, A. Labro, D. Snyders, 2023, Orphanet Journal of Rare Diseases.

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort

D. Roden, H. Dietz, B. Gelb, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

S. Mehta, J. Roos‐Hesselink, M. Kempers, 2018, Human mutation.

GRM7 variants confer susceptibility to age-related hearing impairment.

Rebecca F. Halperin, Jason J. Corneveaux, D. Stephan, 2009, Human molecular genetics.

Audiometric shape and presbycusis

Astrid van Wieringen, Vedat Topsakal, Paul Van de Heyning, 2009, International journal of audiology.

Genetics of sudden cardiac death in the young

B. Loeys, F. Marchau, E. V. Van Craenenbroeck, 2015, Clinical genetics.

A Novel Z-Score–Based Method to Analyze Candidate Genes for Age-Related Hearing Impairment

E. Fransen, P. Govaerts, G. Van Camp, 2004, Ear and hearing.

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

G. Mortier, C. Vrints, W. Wuyts, 2017, The Journal of molecular diagnostics : JMD.

Intermittent Brugada syndrome in an anorexic adolescent girl.

B. Loeys, L. Mertens, M. Gewillig, 2014, Journal of cardiology cases.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2018, Genetics in Medicine.

Evaluation of host genetic and viral factors as surrogate markers for HTLV‐1‐associated myelopathy/tropical spastic paraparesis in Peruvian HTLV‐1‐infected patients

J. Huyghe, G. Vanham, E. Gotuzzo, 2010, Journal of medical virology.

Hearing Disability Measured by the Speech, Spatial, and Qualities of Hearing Scale in Clinically Normal-Hearing and Hearing-Impaired Middle-Aged Persons, and Disability Screening by Means of a Reduced SSQ (the SSQ5)

E. Fransen, V. Topsakal, A. van Wieringen, 2012, Ear and hearing.

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

J. Roach, B. D. de Vries, K. Prescott, 2015, American journal of human genetics.

Musculocontractural Ehlers‐Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan‐4‐sulfotransferase 1 encoding CHST14 gene

S. Nampoothiri, A. De Paepe, P. Vlummens, 2010, Human mutation.

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

S. Seneca, V. Dideberg, K. Claes, 2021, JMIR medical informatics.

Molecular characterisation of non-absorptive and absorptive enterocytes in human small intestine

A. Poustka, P. Schirmacher, N. Gretz, 2005, Gut.

Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.

H. Smeets, W. Wuyts, G. Van Camp, 2008, Mitochondrion.

GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population

G. Van Camp, L. Van Laer, R. Snoeckx, 2005, American journal of medical genetics. Part A.

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

A. Hoischen, J. Timmermans, H. Dietz, 2019, European Journal of Human Genetics.

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

K. Girisha, A. Shukla, B. Loeys, 2018, BMC Medical Genetics.

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

N. Samani, L. Mazzolai, A. Maas, 2020, Circulation.

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

B. Loeys, P. Vermeersch, D. Schoors, 2019, JACC. Cardiovascular interventions.

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys‐Dietz syndromes

B. Menten, J. Hellemans, A. De Paepe, 2011, Human mutation.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2017, Genetics in Medicine.

Inherited mitochondrial variants are not a major cause of age-related hearing impairment in the European population.

A. Voets, H. Smeets, J. Huyghe, 2011, Mitochondrion.

Autosomal Dominant Nonsyndromic Hearing Impairment: an Overview

G. Van Camp, L. Van Laer, 2003 .

Possible implication of NFKB1A and NKG2D genes in susceptibility to HTLV‐1‐associated myelopathy/tropical spastic paraparesis in Peruvian patients infected with HTLV‐1

J. Huyghe, G. Vanham, E. Gotuzzo, 2012, Journal of medical virology.

Familial aggregation of tinnitus: a European multicentre study.

T. Wienker, H. Kremer, D. Stephens, 2007, B-ENT.

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

J. Tytgat, B. Loeys, A. Labro, 2020, Frontiers in Cardiovascular Medicine.

A new, easy, and rapid high-throughput detection method for the common GJB2 (CX26), 35delG mutation.

G. Van Camp, J. Hendrickx, L. Van Laer, 2007, Genetic testing.

Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.

B. Loeys, L. Van Laer, J. Meester, 2016, Genetics research.

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

P. Jorens, J. Hendriks, B. Loeys, 2019, Front. Med..

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

E. Govaerts, B. Loeys, I. Rodrigus, 2023, Frontiers in genetics.

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

W. Wuyts, B. Loeys, G. Vandeweyer, 2022, Bioinformatics.

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

B. Loeys, L. Van Laer, J. Meester, 2023, Stem cell research.