Research Explorer

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Researcher

Wouter Steyaert

37 Results

2022

Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA

Ilse MeerschautWouter SteyaertThierry BovéKatrien FrancoisKatya De GrooteJoseph PanzerKristof VandekerckhovePetra VermassenSofie SymoensPaul CouckeDaniël De WolfBert Callewaert

A1 Journal Article in GENES

2021

Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model

Wouter SteyaertShana VerschuerePaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF GENETICS AND GENOMICS

2020

A clinical scoring system for congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertFrank PlasschaertPaul CouckeAnne De PaepeDaniël De WolfSofie SymoensBert Callewaert

A1 Journal Article in GENETICS IN MEDICINE

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)

Tim Van DammeBrecht GuillemynDelfien SyxWouter SteyaertRiet De RyckePaul CouckeSofie SymoensAnne De PaepeFransiska MalfaitBert Callewaert

2019

Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum

Ilse MeerschautAude BeyensWouter SteyaertRiet De RyckeKatrien BonteTine De BackerSandra JanssensJoseph PanzerFrank PlasschaertDaniël De WolfBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Two novel probands with Myhre syndrome identified through WES

Ilse MeerschautAude BeyensWouter SteyaertRiet De RyckeBjörn MentenKatrien BonteTine De BackerSandra JanssensFransiska MalfaitJoseph PanzerFrank PlasschaertPaul CouckeDaniël De WolfBert Callewaert

2018

BATCH-GE : analysis of NGS data for genome editing assessment

Wouter SteyaertAnnekatrien BoelPaul CouckeAndy Willaert

Bookchapter in Xenopus : methods and protocols

CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments

Annekatrien BoelHanna De SaffelWouter SteyaertBert CallewaertAnne De PaepePaul CouckeAndy Willaert

A1 Journal Article in DISEASE MODELS & MECHANISMS

Delineation of a clinical scoring system and diagnostic criteria for CCA

Ilse MeerschautWouter SteyaertDaniël De WolfFrank PlasschaertPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

Future perspectives of genome-scale sequencing

Wouter SteyaertSteven CallensPaul CouckeBart DermautDimitri HemelsoetBruce Poppe

A1 Journal Article in ACTA CLINICA BELGICA

IRF2BPL is associated with neurological phenotypes

Wouter SteyaertBart DermautBruce PoppeDimitri HemelsoetSteven CallensPaul CouckeWim TerrynRudy Van Coster

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline

Laura Muiño MosqueraFelke SteijnsIlse MeerschautAnne De PaepeWouter SteyaertSofie SymoensPaul CouckeBert CallewaertMarjolijn RenardJulie De Backer

A1 Journal Article in CIRCULATION-GENOMIC AND PRECISION MEDICINE

2017

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertJulie De BackerPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertJulie De BackerPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa

Tim Van DammeBrecht GuillemynDelfien SyxWouter SteyaertRiet De RyckePaul CouckeSofie SymoensAnne De PaepeFransiska MalfaitBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Myhre syndrome : broadening the phenotypic spectrum

Ilse MeerschautSandra JanssensWouter SteyaertJoseph PanzerKatrien FrancoisFrank PlasschaertKatrien BonteTine De BackerPaul CouckeDaniël De WolfBert Callewaert

Myhre syndrome : broadening the phenotypic spectrum

Ilse MeerschautSandra JanssensWouter SteyaertJoseph PanzerFrank PlasschaertKatrien BonteTine De BackerPaul CouckeDaniël De WolfBert Callewaert

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome

Sofie SymoensWouter SteyaertLynn DemuynckAnne De PaepeFransiska MalfaitPaul Coucke

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

Caroline Van CauwenberghKristof Van SchilRobrecht CannoodtMiriam BauwensThalia Van LaethemSarah De JaegereWouter SteyaertTom SanteBjörn MentenBart LeroyFrauke CoppietersElfride De Baere

A1 Journal Article in GENETICS IN MEDICINE

2016

A homozygous B3GAT3 mutation causes a multisystemic cutis laxa-like syndrome, expanding the phenotype of linkeropathies

Brecht GuillemynTim Van DammeWouter SteyaertDelfien SyxPaul CouckeAnne De PaepeSofie SymoensFransiska Malfait

BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment

Annekatrien BoelWouter SteyaertNina De RockerBjörn MentenBert CallewaertAnne De PaepePaul CouckeAndy Willaert

A1 Journal Article in SCIENTIFIC REPORTS

CRISPR/Cas9 mediated knockout of rb1 and rbl1 leads to rapid and penetrant retinoblastoma development in Xenopus tropicalis

Thomas NaertRobin ColpaertTom Van NieuwenhuysenDionysia DimitrakopoulouJannick LeoenJurgen HaustraeteAnnekatrien BoelWouter SteyaertTrees LepezDieter DeforceAndy WillaertDavid CreytensKris Vleminckx

A1 Journal Article in SCIENTIFIC REPORTS

Congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertJulie De BackerPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertJulie De BackerPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome

Wouter SteyaertPaul Coucke

A1 Journal Article in CLINICAL GENETICS

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP

Paul CouckeWouter Steyaert

A1 Journal Article in BMC MEDICAL GENETICS

2015

Efficiency of exome sequencing for the molecular diagnosis of Pseudoxanthoma Elasticum

Mohammad Jakir HosenFilip Van NieuwerburghWouter SteyaertDieter DeforceAnne De PaepePaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Ehlers-Danlos syndrome, hypermobility type, is linked to chromosome 8p22-8p21.1 in an extended Belgian family

Delfien SyxSofie SymoensWouter SteyaertAnne De PaepePaul CouckeFransiska Malfait

A1 Journal Article in DISEASE MARKERS

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

Kim De LeeneerJan HellemansWouter SteyaertSteve LefeverInge VereeckeEveline DebalsBrecht CrombezMachteld BaetensMattias Van HeetveldeFrauke CoppietersJo VandesompeleAnnelies De JaegherElfride De BaerePaul CouckeKathleen Claes

A1 Journal Article in HUMAN MUTATION

Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia

Sofie SymoensCharlotte GistelinckFransiska MalfaitBrecht GuillemynWouter SteyaertDelfien SyxSanne D'hondtJulie De BackerPaul WittenAnn HuysseuneKris VleminckxAndy WillaertAnne De PaepePaul Coucke

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population

Osama EssawiKim De LeeneerWouter SteyaertKatia De PauwAnne De PaepeKathleen ClaesPaul Coucke

A1 Journal Article in DISEASE MARKERS

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder

Patrick SantensTim Van DammeWouter SteyaertAndy WillaertAnne De PaepePaul CouckeBart Dermaut

A1 Journal Article in NEUROLOGY

Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome

Sofie SymoensWouter SteyaertLynn DemuynckFransiska MalfaitAnne De PaepePaul Coucke

2014

Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development

Sofie SymoensCharlotte GistelinckFransiska MalfaitKris VleminckxBrecht GuillemynDelfien SyxWouter SteyaertEef ParthoensJulie De BackerAndy WillaertAnne De PaepePaul Coucke

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Frederic AckeFransiska MalfaitOlivier VanakkerWouter SteyaertKim De LeeneerGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerPaul Coucke

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

2013

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Sofie SymoensFransiska MalfaitSanne D'hondtBert CallewaertAnnelies DheedeneWouter SteyaertAnne De PaepePaul Coucke

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing

Frederic AckeFransiska MalfaitOlivier VanakkerWouter SteyaertKim De LeeneerGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerPaul Coucke