Research Explorer

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Researcher

Wouter Steyaert

Awards & Distinctions

45 Results

2024

Mobile element insertions in rare diseases : a comparative benchmark and reanalysis of 60,000 exome samples

Robin WijngaardGerman DemidovLuke O'GormanJordi Corominas-GalbanyBurcu YaldizWouter SteyaertElke de BoerLisenka E. L. M. VissersErik-Jan KamsteegRolph Pfundt et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

2023

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Wouter SteyaertLonneke Haer-WigmanRolph PfundtDebby HellebrekersMarloes SteehouwerJuliet HampsteadElke de BoerAlexander StegmannHelger YntemaErik-Jan Kamsteeg et al.

A1 Journal Article in NATURE COMMUNICATIONS

2022

DeNovoCNN : a deep learning approach to de novo variant calling in next generation sequencing data

Gelana KhazeevaKarolis SablauskasBart van der SandenWouter SteyaertMichael KwintDmitrijs RotsMax HinneMarcel van GervenHelger YntemaLisenka Vissers et al.

A1 Journal Article in NUCLEIC ACIDS RESEARCH

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

Ilse MeerschautWouter SteyaertThierry BovéKatrien FrancoisTHOMAS MARTENSKatya De GrooteHANS DE WILDELaura Muiño MosqueraJoseph PanzerKristof Vandekerckhove et al.

A1 Journal Article in GENES

G protein–coupled receptor kinase 6 (GRK6) regulates insulin processing and secretion via effects on proinsulin conversion to insulin

Matthew J. VarneyWouter SteyaertPaul CouckeJoris DelangheDavid E. UehlingBabu JosephRichard MarcellusRima Al-awarJeffrey L. Benovic

A1 Journal Article in JOURNAL OF BIOLOGICAL CHEMISTRY

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

Elke de BoerBurcu YaldizAnne-Sophie Denomme-PichonLeslie MatalongaSteve LaurieWouter SteyaertRick de ReuverChristian GilissenMichael KwintRolph Pfundt et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Hypergastrinemia, a clue leading to the identification of an atypical form of diabetes mellitus type 2

Wouter SteyaertMatthew J. VarneyJeffrey L. BenovicJohn CreemersMarijn SpeeckaertPaul CouckeJoris Delanghe

A1 Journal Article in CLINICA CHIMICA ACTA

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

G protein-coupled receptor kinase 6 (GRK6) regulation of insulin processing and secretion

Matthew VarneyWouter SteyaertPaul CouckeJoris DelangheJeffrey Benovic

2020

A clinical scoring system for congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertAngela BarnicoatAllan BayatFrancesco BenedicentiSiren BerlandEdward M. BlairJeroen BreckpotAnna de Burca et al.

A1 Journal Article in GENETICS IN MEDICINE

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

Tim Van DammeThatjana GardeitchikMiski MohamedSergio Guerrero-CastilloPeter FreisingerBrecht GuillemynAriana KariminejadDaisy DalloyauxSanne van KraaijDirk J. Lefeber et al.

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 Wolf et al.

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 Panzer et al.

2018

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

Wouter SteyaertAnnekatrien BoelPaul CouckeAndy Willaert

Bookchapter in Xenopus : methods and protocols

BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment (vol 6, 30330, 2016)

Annekatrien BoelWouter SteyaertNina De RockerBjörn MentenBert CallewaertAnne De PaepePaul CouckeAndy Willaert

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 MeerschautShana De ConinckAnnelies MatthysBjorn TuytensWouter SteyaertDaniël De WolfFrank PlasschaertPaul CouckeAnne De PaepeSofie Symoens et al.

Future perspectives of genome-scale sequencing

Wouter SteyaertSteven CallensPaul CouckeBart DermautDimitri HemelsoetWim TerrynBruce Poppe

A1 Journal Article in ACTA CLINICA BELGICA

IRF2BPL is associated with neurological phenotypes

Paul C MarcoglieseVandana ShashiRebecca C SpillmannNicholas StongJill A RosenfeldMary Kay KoenigJulian A Martínez-AgostoMatthew HerzogAgnes H ChenPatricia I Dickson et al.

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 SteijnsTjorven AudenaertIlse MeerschautAnne De PaepeWouter SteyaertSofie SymoensPaul CouckeBert CallewaertMarjolijn Renard et al.

A1 Journal Article in CIRCULATION-GENOMIC AND PRECISION MEDICINE

2017

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa

Tim Van DammeThatjana GardeitchikMiski MohamedSergio Guerrero-CastilloPeter FreisingerBrecht GuillemynAriana KariminejadDaisy DalloyauxSanne van KraaijDirk J Lefeber et al.

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 Wolf et al.

Myhre syndrome : broadening the phenotypic spectrum

Ilse MeerschautSandra JanssensWouter SteyaertJoseph PanzerKatrien FrançoisFrank PlasschaertKatrien BonteTine De BackerPaul CouckeDaniël De Wolf et al.

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

Sofie SymoensWouter SteyaertLynn DemuynckAnne De PaepeKarin EM DiderichFransiska 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 Leroy et al.

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 SymoensSheela NampoothiriFransiska 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 Deforce et al.

A1 Journal Article in SCIENTIFIC REPORTS

Congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

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

RH AliK ShahA NasirWouter SteyaertPaul CouckeW Ahmad

A1 Journal Article in CLINICAL GENETICS

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

Khadim ShahRaja Hussain AliMuhammad AnsarKwanghyuk LeeMuhammad Salman ChishtiIzoduwa AbbeBiao LiJoshua D SmithDeborah A NickersonJay Shendure et al.

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 DeforceLudovic MartinGeorges LeftheriotisAnne 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 Coppieters et al.

A1 Journal Article in HUMAN MUTATION

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

Sofie SymoensAileen M BarnesCharlotte GistelinckFransiska MalfaitBrecht GuillemynWouter SteyaertDelfien SyxSanne D'hondtMartine BiervlietJulie De Backer et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

Osama EssawiMohammad A FarrajKim De LeeneerWouter SteyaertKatia De PauwAnne De PaepeKathleen ClaesTamer EssawiPaul Coucke

A1 Journal Article in DISEASE MARKERS

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

Patrick SantensTim Van DammeWouter SteyaertAndy WillaertBernard SablonnièreAnne 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 PaepeKarin EM DiderichPaul Coucke

2014

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

Sofie SymoensAileen BarnesCharlotte GistelinckFransiska MalfaitKris VleminckxBrecht GuillemynDelfien SyxWouter SteyaertEef ParthoensMartine Biervliet et al.

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 SteyaertHans Peter BächingerAnne De PaepeHulya KayseriliPaul 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