Research Explorer

Uw browser ondersteunt geen JavaScript of JavaScript is niet ingeschakeld. Zonder JavaScript kan sommige functionaliteit van deze webapplicatie uitgeschakeld zijn of foutmeldingen veroorzaken. Raadpleeg om JavaScript in te schakelen de handleiding van uw browser of contacteer uw systeembeheerder.

Onderzoeker

Sarah Vergult

93 Resultaten

2022

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

Andrea WildermanEva D'haeneMachteld BaetensTara N. YankeeEmma Wentworth WinchesterNicole GliddenEllen RoetsJo Van DorpeSarah VergultTimothy C. CoxJustin Cotney

Expanding the phenotype of B3GALNT2-related disorders

Erika D'haenensSarah VergultBjörn MentenAnnelies DheedeneR. Frank KooyBert Callewaert

A1 Artikel in een tijdschrift in GENES

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

Naama HirschIdit DahanEva D'haeneMatan AvniSarah VergultMarta Vidal-GarcíaPamela MaginiClaudio GrazianoElena BonoraAnna Maria NardoneFrancesco BrancatiAlberto Fernández-JaénOlson J. RoryBenedikt HallgrimssonRamon Y Birnbaum

U Artikel in een tijdschrift in Genome Research

MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects

Juliette CoursimaultAnne-Marie GuerrotMichelle M. MorrowCatherine SchrammFrancisca Millan ZamoraAnita ShanmughamShuxi LiuFanggeng ZouFrederic BilanGwenael Le GuyaderAnge-Line BruelAnne-Sophie Denomme-PichonLaurence FaivreFrederic Tran Mau-ThemMarine TessarechEstelle ColinSalima El ChehadehBenedicte GerardElise SchaeferBenjamin CogneBertrand IsidorMathilde NizonDiane DoummarStephanie ValenceDelphine HeronBoris KerenCyril MignotCharles CouttonFrancoise DevillardAnne-Sophie AlaixJeanne AmielLaurence ColleauxArnold MunnichKarine PoirierMarlene RioSophie RondeauGiulia BarciaBert CallewaertAnnelies DheedeneCandy KumpsSarah VergultBjörn MentenWendy K. ChungRebecca HernanAustin LarsonKelly NoriSarah StewartJames WhelessChristina KresgeBeth A. PletcherRoseline CaumesThomas SmolSabine SigaudyChristine CoubesMargaret HelmRosemarie SmithJennifer MorrisonPatricia G. WheelerAmy KritzerGuillaume JouretAlexandra AfenjarJean-Francois DeleuzeRobert OlasoAnne BolandChristine PoitouThierry FrebourgClaude HoudayerPascale Saugier-VeberGael NicolasFrancois Lecoquierre

A1 Artikel in een tijdschrift in HUMAN GENETICS

Mapping the 3D genome of the human retina and its role in retinal disease

Eva D'haeneVictor Lopez SorianoLies VantommeBernd WissingerSusanne KohlSarah VergultElfride De Baere

Mapping the 3D genome of the human retina and its role in retinal disease

Eva D'haeneVictor Lopez SorianoLies VantommeBernd WissingerSusanne KohlSarah VergultElfride De Baere

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

Kiana MohajeriRachita YadavEva D'haenePhilip M. BooneSerkan ErdinDadi GaoMariana Moyses-OliveiraRiya BhavsarBenjamin CurrallKathryn O’KeefeChelsea LowtherDiane LucenteNicholas D. BurtMonica SalaniMatthew LarsonBjörn MentenDerek J.C. TaiJames F. GusellaSarah VergultMichael E. Talkowski

2021

A reassessment of copy number variations in congenital heart defects : picturing the whole genome

Ilse MeerschautSarah VergultAnnelies DheedeneBjörn MentenKatya De GrooteHans De WildeLaura Muiño MosqueraJoseph PanzerKristof VandekerckhovePaul CouckeDaniël De WolfBert Callewaert

A1 Artikel in een tijdschrift in GENES

CRISPR-ing the gap between discovery and validation of candidate genes for neurodevelopmental disorders

Eva JacobsSarah VergultBert CallewaertBjörn Menten

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

Eva JacobsKathleen BrownMelissa C. BylerErika D'haenensAnnelies DheedeneLindsay B. HendersonJennifer B. HumbersonRichard H. JaarsveldFarah KananiRobert Roger LebelFrancisca MillanRenske OegemaAnna OostraMichael J. ParkerLindsay RhodesMargarita SaenzLaurie H. SeaverYue SiArnaud VanlanderSarah VergultBert Callewaert

A1 Artikel in een tijdschrift in CLINICAL GENETICS

Interpreting the impact of noncoding structural variation in neurodevelopmental disorders

Eva D'haeneSarah Vergult

A1 Artikel in een tijdschrift in GENETICS IN MEDICINE

Neurodevelopmental disorders in 3D : interpreting the impact of non-coding structural variation on gene regulation and 3D chromatin structure

Eva D'haeneSarah VergultBjörn Menten

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Candy KumpsErika D'haenensSarah VergultJasmine LeusRudy Van CosterAnna JansenKoen DevriendtAnna OostraOlivier Vanakker

A1 Artikel in een tijdschrift in CLINICAL GENETICS

Structural variants disrupt a critical regulatory region downstream of FOXG1

Eva D'haeneLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

The functional annotation and exploration the SOX11 enhanceosome

Amber LouwagieBieke DecaestekerLouis DelhayeEva D'haeneEric de Bony de LavergneVolodimir OlexioukSarah VergultRogier VersteegJan KosterJohan van NesSara EkStephen RobertsSven EyckermanPieter MestdaghKatleen De PreterFranki Speleman

2020

Mechanistic dissection of chromatin topology disruption in the 5q14.3 MEF2C locus as an indirect driver of neurodevelopmental disorders

Kiana MohajeriEva D'haeneRachita YadavHuiya GuBjörn MentenAviva Presser AidenChelsea LowtherSerkan ErdinErez Lieberman AidenJames GusellaSarah VergultMichael Talkowski

Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Stijn Van de SompeleThijs Van der SnicktEva D'haeneSarah VergultPetra LiskovaCarlo RivoltaJenneke van den EndeArthur A. BergenIrina BalikovaJulie De ZaeytijdFadi ShayaKent W. SmallElfride De Baere

Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Stijn Van de SompeleThijs Van der SnicktEva D'haeneSarah VergultPetra LiskovaCarlo RivoltaJenneke Van den EndeArthur A. BergenIrina BalikovaJulie De ZaeytijdFadi ShayaKent SmallElfride De Baere

Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease

Stijn Van de SompeleThijs Van der SnicktEva D'haeneSarah VergultPetra LiskovaCarlo RivoltaJenneke van den EndeArthur BergenIrina BalikovaJulie De ZaeytijdFadi S. ShayaKent W. SmallElfride De Baere

2019

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

Eva D'haeneReut Bar-YaacovInbar BariahLies VantommeSien Van LooFrancisco Avila CobosKaren VerboomReut EshelRawan AlatawnaBjörn MentenRamon Y BirnbaumSarah Vergult

A1 Artikel in een tijdschrift in HUMAN MOLECULAR GENETICS

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)

Eva JacobsSarah VergultMaria Palomares BraroSixto Garcia-MinaurS. Simmaro FernandoT. Duelund HjortshøjM. GérardA. MolinP. Villavicencio-LoriniJ. KöhlhaseK. HoffmannM. BauerHilde PeetersP. AerssensNicole RevencuP. LysyP. TorringK. SorensenCarlo MarcelisLot Snijders-BlokAnnelies DheedeneBjörn MentenBert Callewaert

Analysis of whole exome sequencing data with a panel of genes associated with intellectual disability and epilepsy in a diagnostic lab

Sarah VergultErika D'haenensMachteld BaetensFrauke CoppietersMaarten De SmetAnnelies DheedeneToon RosseelTom SanteBjörn Menten

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Gregory CostainBert CallewaertHeinz GabrielTiong Y TanSusan WalkerJohn ChristodoulouTamas LazarBjörn MentenJulia OrkinSimon SadedinMeaghan SnellArnaud VanlanderSarah VergultSusan M WhiteStephen W SchererRobin Z HayeemsSusan BlaserShoshana J WodakDavid ChitayatChristian R MarshallM Stephen Meyn

A1 Artikel in een tijdschrift in GENETICS IN MEDICINE

Non-invasive prenatal testing (NIPT) : how to handle secondary findings of maternal chromosomal abnormalities

Machteld BaetensTom SanteSarah VergultM. De SmetS. JanssensOlivier VanakkerBert CallewaertBruce PoppeAnnelies DheedeneBjörn Menten

Noncoding structural variants disrupt the regulatory architecture of Rett genes

Eva D'haeneReut Bar-YaacovInbar BariahLies VantommeSien Van LooFrancisco Avila CobosKaren VerboomReut EshelRawan AlatawnaBjörn MentenRamon BirnbaumSarah Vergult

Noncoding structural variants disrupt the regulatory architecture of Rett genes

Eva D'haeneReut Bar-YaacovInbar BariahLies VantommeSien Van LooFrancisco Avila CobosKaren VerboomReut EshelRawan AlatawnaBjörn MentenRamon BirnbaumSarah Vergult

2018

A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

Eva D'haeneReut Bar-YaacovInbar BariahLies VantommeSien Van LooFrancisco Avila CobosKaren VerboomReut EshelRawan AlatawnaBjörn MentenRamon BirnbaumSarah Vergult

CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells

Eva JacobsSharat WarrierPieter-Jan VoldersEva D'haeneEva VanlombergenLies VantommeMargot Van der JeughtBjörn HeindryckxBjörn MentenSarah Vergult

CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells

Eva JacobsSharat WarrierPieter-Jan VoldersEva D'haeneEva VanlombergenLies VantommeMargot Van der JeughtBjörn HeindryckxBjörn MentenSarah Vergult

Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ

Rudy Van CosterJoél SmetBoel De PaepeElise VantroysFemke NachtergaeleSarah VergultBjörn MentenArnaud VanlanderFrançois-Guillaume Debray

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

M. Felicia BasilicataAnge-Line BruelGiuseppe SemplicioClaudia Isabelle Keller ValsecchiTuğçe AktaşYannis DuffourdTobias RumpfJenny MortonIben BacheWitold G. SzymanskiChristian GilissenOlivier VanakkerKatrin ÕunapGerhard MittlerIneke van der BurgtSalima El ChehadehMegan T. ChoRolph PfundtTiong Yang TanMaria KirchhoffBjörn MentenSarah VergultKristin LindstromAndré ReisDiana S. JohnsonAlan FryerVictoria McKayRichard B. FisherChristel Thauvin-RobinetDavid FrancisTony RoscioliSander PajusaluKelly RadtkeJaya GaneshHan G. BrunnerMeredith WilsonLaurence FaivreVera M. KalscheuerJulien ThevenonAsifa Akhtar

A1 Artikel in een tijdschrift in NATURE GENETICS

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

Elise VantroysJoél SmetArnaud VanlanderSarah VergultRuth De BruyneFrank RoelsHedwig StepmanHerbert RoeyersBjörn MentenRudy Van Coster

A1 Artikel in een tijdschrift in ORPHANET JOURNAL OF RARE DISEASES

The MEF2C regulatory network is disrupted in patients with Rett-like characteristics

Eva D'haeneReut Bar-YaakovInbar BariahSien Van LooLies VantommeFrancisco Avila CobosReut EshelRowan AlatawnaBjörn MentenRamon BirnbaumSarah Vergult

The MEF2C regulatory network is disrupted in patients with Rett-like characteristics

Eva D'haeneSarah VergultReut Bar-YaakovInbar BariahLies VantommeSien Van LooFrancisco Avila CobosReut EshelRowan AlatawnaRamon BirnbaumBjörn Menten

The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy

Arnaud VanlanderHelene VerhelstElise VantroysJoél SmetBoel De PaepeSarah VergultBjörn MentenRudy Van Coster

2017

CRISPR/Cas9-mediated genome editing in naive human embryonic stem cells followed by neural differentiation : an optimized workflow

Eva JacobsSharrat WarrierEva D'haeneMargot Van der JeughtBjörn HeindryckxBjörn MentenSarah Vergult

CRISPR/Cas9-mediated genome editing in naïve human embryonic stem cells

Eva JacobsSharat WarrierPieter-Jan VoldersEva D'haeneEva Van LombergenLies VantommeMargot Van der JeughtBjörn HeindryckxBjörn MentenSarah Vergult

A1 Artikel in een tijdschrift in SCIENTIFIC REPORTS

Innovations in cytogenomic technologies for prenatal diagnosis

Annelies DheedeneBjörn MentenSarah Vergult

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A BraunJia RaoGeraldine MolletDavid SchapiroMarie-Claire DaugeronWeizhen TanOlivier GribouvalOlivia BoyerPatrick RevyTilman Jobst-SchwanJohanna Magdalena SchmidtJennifer A LawsonDenny SchanzeShazia AshrafJeremy F P UllmannCharlotte A HoogstratenNathalie BoddaertBruno CollinetGaëlle MartinDominique LigerSvjetlana LovricMonica FurlanoI Chiara GuerreraOraly Sanchez-FerrasJennifer F HuAnne-Claire BoschatSylvia SanquerBjörn MentenSarah VergultNina De RockerMerlin AirikTobias HermleShirlee ShrilEugen WidmeierHeon Yung GeeWon-Il ChoiCarolin E SadowskiWerner L PabstJillian K WarejkoAnkana DagaTamara BastaVerena MatejasKarin ScharmannSandra D KienastBabak BehnamBrendan BeesonAmber BegtrupMalcolm BruceGaik-Siew Ch'ngShuan-Pei LinJui-Hsing ChangChao-Huei ChenMegan T ChoPatrick M GaffneyPatrick E GipsonChyong-Hsin HsuJameela A KariYu-Yuan KeCathy Kiraly-BorriWai-ming LaiEmmanuelle LemyreRebecca Okashah LittlejohnAmira MasriMastaneh MoghtaderiKazuyuki NakamuraFatih OzaltinMarleen PraetChitra PrasadAgnieszka Prytula-EbelsElizabeth R RoederPatrick RumpRhonda E SchnurTakashi ShiiharaManish D SinhaNeveen A SolimanKenza SoulamiDavid A SweetserWen-Hui TsaiJeng-Daw TsaiRezan TopalogluUdo VesterDavid H ViskochilNithiwat VatanavicharnJessica L WaxlerKlaas J WierengaMatthias T F WolfSik-Nin WongSebastian A LeidelGessica TruglioPeter C DedonAnnapurna PoduriShrikant ManeRichard P LiftonMaxime BouchardPeter KannuDavid ChitayatDaniella MagenBert CallewaertHerman van TilbeurghMartin ZenkerCorinne AntignacFriedhelm Hildebrandt

A1 Artikel in een tijdschrift in NATURE GENETICS

New insights into the phenotype of FARS2 deficiency

Elise VantroysAustin LarsonMarisa FriederichKaz KnightMichael A SwansonChristopher A PowellJoél SmetSarah VergultBoel De PaepeSara SenecaHerbert RoeyersBjörn MentenMichal MinczukArnaud VanlanderJohan Van HoveRudy Van Coster

A1 Artikel in een tijdschrift in MOLECULAR GENETICS AND METABOLISM

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire RedinHarrison BrandRyan L CollinsTammy KamminElyse MitchellJennelle C HodgeCarrie HanscomVamsee PillalamarriCatarina M SeabraMary-Alice AbbottOmar A Abdul-RahmanErika AbergRhett AdleySofia L Alcaraz-EstradaFowzan S AlkurayaYu AnMary-Anne AndersonCaroline AntolikKwame Anyane-YeboaJoan F AtkinTina BartellJonathan A BernsteinElizabeth BeyerIan BlumenthalErnie MHF BongersEva H BrilstraChester W BrownHennie T BruggenwirthBert CallewaertColby ChiangKen CorningHelen CoxEdwin CuppenBenjamin B CurrallTom CushingDezso DavidMatthew A DeardorffAnnelies DheedeneMarc D'HoogheBert BA de VriesDawn L EarlHeather L FergusonHeather FisherDavid R FitzPatrickPamela GerrolDaniela GiachinoJoseph T. GlessnerTroy GliemMargo GradyBrett H GrahamCristin GriffisKaren W GrippAndrea L GropmanAndrea Hanson-KahnDavid J HarrisMark A HaydenRosamund HillRon HochstenbachJodi D HoffmanRobert J HopkinMonika W HubshmanA Micheil InnesMira IronsMelita IrvingJessie C JacobsenSandra JanssensTamison JewettJohn P JohnsonMarjolijn C JongmansStephen G KahlerDavid A KoolenJerome KorzeliusPeter M KroiselYves LacassieWilliam LawlessEmmanuelle LemyreKathleen LeppigAlex V LevinHaibo LiHong LiEric C LiaoCynthia LimEdward J LoseDiane LucenteMichael J MaceraPoornima ManavalanGiorgia MandrileCarlo L MarcelisLauren MargolinTamara MasonDiane Masser-FryeMichael W McClellanCinthya J Zepeda MendozaBjörn MentenSjors MiddelkampLiya R MikamiEmily MoeShehla MohammedTarja MononenMegan E MortensonGraciela MoyaAggie W NieuwintZehra OrduluSandhya ParkashSusan P PaukerShahrin PereiraDanielle PerrinKaty PhelanRaul E Pina AguilarPino J PoddigheGiulia PregnoSalmo RaskinLinda ReisWilliam RheadDebra RitaIvo RenkensFilip RoelensJayla RulieraPatrick RumpSamantha LP SchilitRanad ShaheenRebecca SparkesErica SpiegelBlair StevensMatthew R StoneJulia TagoeJoseph V ThakuriaBregje W van BonJiddeke van de KampIneke van Der BurgtTon van EssenConny M van Ravenswaaij-ArtsMarkus J van RoosmalenSarah VergultCatharina ML Volker-TouwDorothy P WarburtonMatthew J WatermanSusan WileyAnna WilsonMaria de la Concepcion A. Yerena-de VegaRoberto T ZoriBrynn LevyHan G BrunnerNicole de LeeuwWigard P KloostermanErik C ThorlandCynthia C MortonJames F GusellaMichael E Talkowski

A1 Artikel in een tijdschrift in NATURE GENETICS

2016

CRISPR/Cas9-mediated genome editing in naive human embryonic stem cells : an optimized workflow

Eva JacobsSharrat WarrierEva D'haeneMargot Van der JeughtBjörn HeindryckxBjörn MentenSarah Vergult

Elucidating the role of coding and noncoding genes in neuronal development using human embryonic stem cells and the CRISPR/Cas9 system

Eva JacobsSharat WarrierEva Van LombergenEva D'haeneMargot Van der JeughtBjörn HeindryckxSarah VergultBjörn Menten

Identification of lncRNAs involved in neuronal differentiation and intellectual disability

Eva D'haeneEva JacobsPieter-Jan VoldersBjörn MentenSarah Vergult

Identification of long non-coding RNAs in neuronal development and intellectual disability

Eva D'haeneEva JacobsPieter-Jan VoldersBjörn MentenSarah Vergult

Identification of long non-coding RNAs involved in neuronal development and intellectual disability

Eva D'haeneEva JacobsPieter-Jan VoldersTim De MeyerBjörn MentenSarah Vergult

A1 Artikel in een tijdschrift in SCIENTIFIC REPORTS

Identification of long non-coding RNAs involved in neuronal development and intellectual disability

Eva D'haeneEva JacobsPieter-Jan VoldersTim De MeyerBjörn MentenSarah Vergult

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory

Annelies DheedeneTom SanteMatthias De SmetJean-François VanbellinghenBernard GrisartSarah VergultSandra JanssensBjörn Menten

A1 Artikel in een tijdschrift in PRENATAL DIAGNOSIS

Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination

Frauke CoppietersGiulia AscariKatharina DannhausenKonstantinos NikopoulosFrank PeelmanMarcus KarlstetterMingchu XuCécile BrachetIsabelle MeunierMiltiadis K TsilimbarisChrysanthi TsikaStyliani V BlazakiSarah VergultPietro FarinelliThalia Van LaethemMiriam BauwensMarieke De BruyneRui ChenThomas LangmannRuifang SuiFrançoise MeireCarlo RivoltaChristian P HamelBart LeroyElfride De Baere

A1 Artikel in een tijdschrift in AMERICAN JOURNAL OF HUMAN GENETICS

Mild early epileptic encephalopathy evolving to spastic paraplegia, neurogenic bladder and generalized slow colon transit in an 18-year old patient with pathogenic mutations in FARS2

Elise VantroysJoél SmetArnaud VanlanderBoel De PaepeSarah VergultTom SanteBjörn MentenRudy Van Coster

Pathogenic mutations in FARS2 in a patient with motor regression and epilepsy as first signs, later evolving to spastic paraplegia associated with autonomic disturbances

Elise VantroysJoél SmetArnaud VanlanderBoel De PaepeSarah VergultTom SanteBjörn MentenRudy Van Coster

Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2

PATRICK VERLOOJoél SmetElise VantroysArnaud VanlanderSarah VergultTom SanteBjörn MentenRudy Van Coster

2015

CRISPR/Cas9-mediated genome editing in primed versus naïve human embryonic stem cells

Eva JacobsSharat WarrierEva D'haeneFilip MatthijssensMargot Van der JeughtBjörn HeindryckxBjörn MentenSarah Vergult

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Sarah VergultAnnelies DheedeneAlfred MeursFranny FaesBertrand IsidorSandra JanssensAgnès GautierCédric Le CaignecBjörn Menten

A1 Artikel in een tijdschrift in EUROPEAN JOURNAL OF HUMAN GENETICS

Identification of lncRNAs involved in neuronal development and intellectual disability

Sarah VergultEva D'haeneEva JacobsBjörn Menten

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

Nina De RockerSarah VergultDavid KoolenEva JacobsAlexander HoischenSusan ZeesmanBirgitte BangFrédérique BénaNele BockaertErnie BongersThomy de RavelKoenraad DevriendtSabrina GiglioLaurence FaivreShelagh JossSaskia MaasNathalie MarleFrancesca NovaraMalgorzata NowaczykHilde PeetersAbeltje PolstraFilip RoelensCarla RosenbergJulien ThevenonZeynep TümerSuzanne VanhauwaertKonstantinos VarvagiannisAndy WillaertMarjolein WillemsenMarjolaine WillemsOrsetta ZuffardiPaul CouckeFranki SpelemanEvan EichlerTjitske KleefstraBjörn Menten

A1 Artikel in een tijdschrift in GENETICS IN MEDICINE

Selection of lncRNAs involved in neuronal development and intellectual disability

Sarah VergultEva D'haeneEva JacobsBjörn Menten

Selection of lncRNAs involved in neuronal development and intellectual disability

Sarah VergultEva D'haeneEva JacobsBjörn Menten

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)

Arnaud VanlanderBjörn MentenJoél SmetLinda De MeirleirTom SanteBoel De PaepeSara SenecaSarah F PearceChristopher A PowellSarah VergultAlex MichotteElien De LatterLies VantommeMichal MinczukRudy Van Coster

A1 Artikel in een tijdschrift in HUMAN MUTATION

2014

A de novo POU3F3 deletion in a boy with intellectual disability and dysmorphic features

Annelies DheedeneMICHAELA MAESSarah VergultBjörn Menten

A2 Artikel in een tijdschrift in MOLECULAR SYNDROMOLOGY

Genomic and functional overlap between somatic and germline chromosomal rearrangements

Sebastiaan van HeeschMarieke SimonisMarkus J van RoosmalenVamsee PillalamarriHarrison BrandEwart W KuijkKim L de LucaNico LansuA Koen BraatAndroniki MenelaouWensi HaoJeroen KorvingSimone SnijderLars T van der VekenRon HochstenbachAlida C KnegtKaren DuranIvo RenkensNajla AlekozaiMyrthe JagerSarah VergultBjörn MentenEwart de BruijnSander BoymansElly IppelEllen van BinsbergenMichael E TalkowskiKlaske LichtenbeltEdwin CuppenWigard P Kloosterman

A1 Artikel in een tijdschrift in CELL REPORTS

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMarkus J van RoosmalenKaren DuranMasoumeh Tavakoli-YarakiMarielle SwinkelsMarie-José van den BoogaardMieke van HaelstFilip RoelensFranki SpelemanEdwin CuppenGeert MortierWigard P KloostermanBjörn Menten

A1 Artikel in een tijdschrift in EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Anneke T Vulto-van SilfhoutShivakumar RajamanickamPhilip J JensikSarah VergultNina De RockerKathryn J NewhallRamya RaghavanSara N ReardonKelsey JarrettTara McIntyreJoseph BulinskiStacy L OwnbyJodi I HuggenvikG Stanley McKnightGregory M RoseXiang CaiAndy WillaertChristiane ZweierSabine EndeleJoep de LigtBregje WM van BonDorien LugtenbergPetra F de VriesJoris A VeltmanHans van BokhovenHan G BrunnerAnita RauchArjan PM de BrouwerGemma L CarvillAlexander HoischenHeather C MeffordEvan E EichlerLisenka ELM VissersBjörn MentenMichael W CollardBert BA de Vries

A1 Artikel in een tijdschrift in AMERICAN JOURNAL OF HUMAN GENETICS

ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation

Tom SanteSarah VergultPieter-Jan VoldersWigard P KloostermanGeert TrooskensKatleen De PreterAnnelies DheedeneFranki SpelemanTim De MeyerBjörn Menten

A1 Artikel in een tijdschrift in PLOS ONE

2013

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Sarah VergultA Jeannette M HoogeboomEmilia K BijlsmaTom SanteEva KlopockiBram De WildeMarjolijn JongmansChristian ThielJoke BGM VerheijAntonio Perez-AytesHilde Van EschAlma KuechlerDaniela QCM Barge-SchaapveldYves SznajerGeert MortierBjörn Menten

A1 Artikel in een tijdschrift in GENETICS IN MEDICINE

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Gea BeundersEls VoorhoeveChristelle GolzioLuba M PardoJill A RosenfeldMichael E TalkowskiIngrid SimonicAnath C LionelSarah VergultRobert E PyattJiddeke van de KampAggie NieuwintMarjan M WeissPatrizia RizzuLucilla ENI VerwerRosalina ML van SpaendonkYiping ShenBai-lin WuTingting YuYongguo YuColby ChiangJames F GusellaAmelia M LindgrenCynthia C MortonEllen van BinsbergenSaskia BulkEls van RossemOlivier VanakkerRuth ArmstrongSoo-Mi ParkLynn GreenhalghUna MayeNicholas J NeillKristin M AbbottSusan SellRoger LaddaDarren M FarberPatricia I BaderTom CushingJoanne M DrautzLaura KonczalPatricia NashEmily de Los ReyesMelissa T CarterElizabeth HopkinsChristian R MarshallLucy R OsborneKaren W GrippDevon Lamb ThrushSayaka HashimotoJulie M Gastier-FosterCaroline AstburyBauke YlstraHanne Meijers-HeijboerDanielle PosthumaBjörn MentenGeert MortierStephen W SchererEvan E EichlerSanthosh GirirajanNicholas KatsanisAlexander J GroffenErik A Sistermans

A1 Artikel in een tijdschrift in AMERICAN JOURNAL OF HUMAN GENETICS

Familial cases of a submicroscopic Xp22.2 deletion : genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

Sarah VergultBart LeroyIlse ClaerhoutBjörn Menten

A1 Artikel in een tijdschrift in MOLECULAR VISION

Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMJ Van RoosmalenK DuranM Tavakoli-YarakiM SwinkelsMJ van den BoomgaardM van HaelstFilip RoelensFranki SpelemanEdwin CuppenGeert MortierBjörn Menten

The need for transparency and good practices in the qPCR literature

Stephen A BustinVladimir BenesJeremy GarsonJan HellemansJim HuggettMikael KubistaReinhold MuellerTania NolanMichael W PfafflGregory ShipleyCarl T WittwerPeter SchjerlingPhilip J DayMónica AbreuBegoña AguadoJean-François BeaulieuAnneleen BeckersSarah BogaertJohn A BrowneFernando Carrasco-RamiroLiesbeth CeelenKate CiborowskiPieter CornillieStephanie CoulonAnn CuypersSara De BrouwerLeentje De CeuninckJurgen De CraeneHélène De NaeyerWard De SpiegelaereKato DeckersAnnelies DheedeneKaat DurinckMargarida Ferreira-TeixeiraAnnelies FieuwJack M GallupSandra Gonzalo-FloresKaren GoossensFemke HeindryckxElizabeth HerringHans HoenickaLaura IcardiRolf JaggiFarzad JavadMichail KarampeliasFrederick KibengeMolly KibengeCandy KumpsIrina LambertzTim LammensAmelia MarkeyPeter MessiaenEvelien MetsSofia MoraisAlberto Mudarra-RubioJustine NakiwalaHilde NelisPal A OlsvikClaudina Perez NovoMichelle PlusquinTony RemansAli RihaniPaulo Rodrigues-SantosPieter RondouRebecca SandersKatharina Schmidt-BleekKerstin SkovgaardKaren SmeetsLaura TaberaStefan ToegelTim Van AckerWim Van Den BroeckJoni Van der MeulenMireille Van GeleGert Van PeerMario Van PouckeNadine Van RoySarah VergultJoris WaumanMarina Tshuikina-WiklanderErik WillemsSara ZaccaraFjoralba ZekaJo Vandesompele

A1 Artikel in een tijdschrift in NATURE METHODS

2012

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

Sarah VergultAndrew DauberBARBARA DELLE CHIAIEElke Van OudenhoveMarleen SimonAli RihaniBart LoeysJoel HirschhornJean PfotenhauerJohn A PhillipsShehla MohammedCaroline OgilvieJohn CrollaGeert MortierBjörn Menten

A1 Artikel in een tijdschrift in EUROPEAN JOURNAL OF HUMAN GENETICS

Array comparative genomic hybridization in male infertility

K StouffsD VandermaelenA MassartBjörn MentenSarah VergultH TournayeW Lissens

A1 Artikel in een tijdschrift in HUMAN REPRODUCTION

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Sarah VergultJeanette HoogeboomEK BijlsmaTom SanteEva KlopockiBram De WildeMarjolein JongmansChristian ThielJ VerheijA Perez-AytesHilde Van EschAlma KüchlerD Barge-SchaapveldYves SznajerGeert MortierBjörn Menten

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms

Wigard P KloostermanMasoumeh Tavakoli-YarakiMarkus J van RoosmalenEllen van BinsbergenIvo RenkensKaren DuranLucia BallaratiSarah VergultDaniel GiardinoKerstin HanssonClaudia AL RuivenkampMyrthe JagerArie van HaeringenElly F IppelThomas HaafEberhard PassargeRon HochstenbachBjörn MentenLidia LarizzaVictor GuryevMartin PootEdwin Cuppen

A1 Artikel in een tijdschrift in CELL REPORTS

Genomic structural variation in patients with intellectual disability and congenital anomalies

Sarah VergultBjörn MentenGeert Mortier

Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas

Annelies FieuwCandy KumpsAlexander SchrammFilip PattynBjörn MentenFrancesca AntonacciPeter SudmantJohannes H SchulteNadine Van RoySarah VergultPatrick G BuckleyAnne De PaepeRosa NogueraRogier VersteegRaymond StallingsAngelika EggertJo VandesompeleKatleen De PreterFranki Speleman

A1 Artikel in een tijdschrift in INTERNATIONAL JOURNAL OF CANCER

Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah VergultEllen Van BinsbergenTom SanteSilke NowakOlivier VanakkerKathleen ClaesBruce PoppeNathalie Van der AaMJ Van RoosmalenK DuranM Tavakoli-YarakiM SwinkelsMJ van den BoomgaardM van HaelstFilip RoelensFranki SpelemanEdwin CuppenGeert MortierWigard KloostermanBjörn Menten

Nasal speech in patients with 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetAgne LiedénBritt-Marie AnderlidFreddie SharkeyShelagh JossGeert MortierBjörn Menten

A1 Artikel in een tijdschrift in EUROPEAN JOURNAL OF HUMAN GENETICS

2011

A visualization platform for interpretation of structural genomic data

TOM SANTESarah VergultBjörn Menten

Complex genetics of radial ray deficiencies: screening of a cohort of 50 patients

Sarah VergultJeanette HoogeboomEK BijlsmaTOM SANTEEva KlopockiBram De WildeMarjolein JongmansChristian ThielJ VerheijA Perez-AytesHilde Van EschAlma KüchlerD Barge-SchaapveldYves SznajerGeert MortierBjörn Menten

Genomic microarrays: challenges and opportunities: five years experience in a diagnostic setting

Sarah VergultKaren BuysseBARBARA DELLE CHIAIESandra JanssensOlivier VanakkerRudy Van CosterAnne De PaepeFranki SpelemanBjörn Menten

Identification of a new rare recurrent 1q42.2-qter deletion in neuroblastoma

Annelies FieuwCandy KumpsAlexander SchrammBjörn MentenJohannes SchulteNadine Van RoySarah VergultRosa NogueraRogier VersteegR StallingsA EggertJo VandesompeleKatleen De PreterFranki Speleman

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetA LiedénBritt-Marie AnderlidFreddy SharkeyShelagh JossGeert MortierBjörn Menten

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetA LiédenBritt-Marie AnderlidFreddy SharkeyShelagh JossGeert MortierBjörn Menten

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetA LiedénBritt-Marie AnderlidFreddy SharkeyShelagh JossGeert MortierBjörn Menten

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

Sarah VergultDanijela KrgovicBart LoeysStanislas LyonnetAgne LiedénBritt-Marie AnderlidFreddie SharkeyShelagh JossGeert MortierBjörn Menten

A1 Artikel in een tijdschrift in EUROPEAN JOURNAL OF HUMAN GENETICS

2010

Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene

Karen BuysseSarah VergultSilke MusscheChantal Ceuterick-De GrooteFranki SpelemanBjörn MentenWilly LissensRudy Van Coster

A1 Artikel in een tijdschrift in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines

An De WeerBruce PoppeSarah VergultPieter Van VlierbergheMarjan PetrickRobrecht De BockYves BenoitLucien NoensAnne De PaepeNadine Van RoyBjörn MentenFranki Speleman

A1 Artikel in een tijdschrift in PLOS ONE

Intragenic deletion of the AUTS2 gene in patients with mental retardation, autistic behaviour and dysmorphic features : a new microdeletion syndrome

Erik SistermansEls VoorhoeveGea BeundersB van der ZwaagHY KroesSarah VergultGeert MortierBjörn MentenS GanaJJ SarisM van der MespelD LindersA NieuwintJM van de KampS GroffenMM Weiss

Report of an apparently balanced translocation disrupting the AUTS2 gene in a patient with developmental delay

Sarah VergultGeert MortierFranki SpelemanBjörn Menten

Report of an apparently balanced translocation disrupting the AUTS2 gene in a patient with developmental delay

Sarah VergultGeert MortierFranki SpelemanBjörn Menten

Report of an apparently balanced translocation disrupting the AUTS2 gene in a patient with developmental delay

Sarah VergultGeert MortierFranki SpelemanBjörn Menten

2009

Myhre syndrome: in search of the causal gene

Sarah VergultMarleen SimonBARBARA DELLE CHIAIEAli RihaniFranki SpelemanGeert MortierBjörn Menten

Myhre syndrome: in search of the causal gene

Sarah VergultMarleen SimonBARBARA DELLE CHIAIEAli RihaniFranki SpelemanGeert MortierBjörn Menten