Research Explorer

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Researcher

Sarah Vergult

Awards & Distinctions

129 Results

2025

Cracking rare disorders : a new minimally invasive RNA-seq protocol

Laurenz De CockErika D'haenensLies VantommeLynn BackersAude BeyensKathleen ClaesGriet De ClercqRobin de PutterCandy KumpsNika Schuermans et al.

A1 Journal Article in NPJ GENOMIC MEDICINE

Deciphering neurodevelopmental disorders : the role of Zinc Finger Homeobox genes

Maria del Rocio Pérez BacaSarah VergultBert CallewaertBjörn Menten

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder

Maria del Rocio Pérez BacaMaría Palomares-BraloMichiel VanhooydonckLisa HamerlinckEva D'haeneSebastian LeimbacherEva JacobsLaurenz De CockErika D'haenensAnnelies Dheedene et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment

Lisa HamerlinckEva D'haeneNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaSebastian LeimbacherLara ColomboLies VantommeEsperanza DaalAnnelies Dheedene et al.

2024

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 DorpeSandra JanssensDanny E. Miller et al.

A1 Journal Article in NATURE COMMUNICATIONS

Clinical impact of RNA-sequencing in diagnostics

Laurenz De CockErika D'haenensSarah VergultLies VantommeAnnelies DheedeneRobin de PutterTim Van DammeJo SourbronBert CallewaertOlivier Vanakker et al.

Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci

Eva D'haeneVictor Lopez SorianoPedro Manuel Martínez-GarcíaSoraya KalayanamontriAlfredo Dueñas ReyAna Sousa-OrtegaSilvia NaranjoStijn Van de SompeleLies VantommeQuinten Mahieu et al.

A1 Journal Article in GENOME BIOLOGY

Comparison of 3D genome structure between neuronal and clinically accessible tissues

Lara ColomboMichael B VaughanNore Van LoonSebastian LeimbacherEsperanza DaalEva D'haeneSarah Vergult

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Maria del Rocio Pérez BacaEva JacobsLies VantommePontus LeBlancElke BogaertAnnelies DheedeneLaurenz De CockSadegheh HaghshenasAidin ForoutanMichael A Levy et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder

Maria del Rocio Pérez BacaMaria PalomaresMichiel VanhooydonckEva D'haeneEva Z. JacobsLies VantommeFernando Santos-SimarroRoser Lleuger-PujolSixto García-MiñaúrItsaso Losantos-García et al.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder

Maria del Rocio Pérez BacaMaria PalomaresMichiel VanhooydonckEva D'haeneEva JacobsLies VantommeFernando Santos-SimarroRoser Lleuger-PujolSixto García-MiñáurItsaso Losantos-García et al.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

Maria del Rocio Pérez BacaMaria Palomares BraloMichiel VanhooydonckLisa HamerlinckEva D'haeneSebastian LeimbacherEva JacobsLaurenz De CockErika D'haenensZoë Malfait et al.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

Maria del Rocio Pérez BacaMaría Palomares BraloMichiel VanhooydonckLisa HamerlinckEva D'haeneSebastian LeimbacherEva JacobsLaurenz De CockErika D'haenensAnnelies Dheedene et al.

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneNore Van LoonMaria del Rocio Pérez BacaSarah VergultBert CallewaertElfride De BaereBjörn MentenLies VantommeMichael B Vaughan

The retina-specific 3D genome and the impact of structural variation in inherited retinal disease

Eva D'haenePedro Manuel Martínez-GarcíaLara ColomboVictor Sanchez GayaAlvaro Rada-IglesiasSarah VergultSusanne KohlJuan Ramon Martinez-MoralesMiriam BauwensJuan J Tena et al.

2023

A comprehensive comparison of different seeding densities and the use of microscaffolds to establish a reproducible protocol for unguided neural organoid differentiation

Nore Van LoonMichael B VaughanRuslan DmitrievSarah Vergult

An optimized workflow for CRISPR/Cas9-mediated generation of indels and large deletions in induced pluripotent stem cells and neural stem cells

Lisa HamerlinckMaria del Rocio Pérez BacaLies VantommeEva D'haeneSarah Vergult

Comparative 3D genome analysis between neural retina and RPE reveals diferential cis-regulatory interactions at retinal disease loci

Eva D'haeneVictor Lopez SorianoPedro Manuel Martinez-GarciaSoraya KalayanamontriAlfredo Dueñas ReyAna Sousa-OrtegaSilvia NaranjoStijn Van de SompeleLies VantommeQuinten Mahieu et al.

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

Eva D'haenePedro Manuel Martinez-GarciaVictor Lopez SorianoSoraya KalayanamontriAlfredo Dueñas ReyLies VantommeSarah VergultAna Bastos NetoJosé Luis Gomez-SkarmetaJuan Ramon Martinez-Morales et al.

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

Eva D'haeneVictor Lopez SorianoPedro Manuel Martínez-GarcíaSoraya KalayanamontriAlfredo Dueñas ReyAna Sousa-OrtegaSilvia NaranjoStijn Van de SompeleLies VantommeQuinten Mahieu et al.

Differential 3D genome topology shapes the regulatory landscapes of IRD genes in human neural retina and retinal pigment epithelium

Eva D'haenePedro Martinez-GarciaVictor Lopez SorianoMiriam BauwensLies VantommeSarah VergultJuan Martinez-MoralesJuan TenaElfride De Baere

Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation

Griet De ClercqLies VantommeBert CallewaertSarah VergultWouter De CosterMojca StrazisarTim De PooterBarbara DewaeleJoris VermeeschAnnelies Dheedene et al.

Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

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

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneMichael B VaughanMaria del Rocio Pérez BacaNore Van LoonLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

Structural variants disrupt a critical regulatory region downstream of FOXG1

Eva D'haeneLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

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. Cox et al.

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

Maria del Rocio Pérez BacaEva JacobsLies VantommePontus LeBlancElke BogaertAnnelies DheedeneLaurenz De CockBart DermautAidin ForoutanJennifer Kerkhof et al.

An optimized workflow for CRISPR/Cas9-mediated generation of indels and large deletions in induced pluripotent stem cells and neural stem cells

Lisa HamerlinckMaria del Rocio Pérez BacaLies VantommeEva D'haeneSarah Vergult

Expanding the phenotype of B3GALNT2-related disorders

Erika D'haenensSarah VergultBjörn MentenAnnelies DheedeneR. Frank KooyBert Callewaert

A1 Journal Article 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 Nardone et al.

A1 Journal Article in GENOME RESEARCH

Long-read sequencing resolves cryptic structural variation in patients with syndromic intellectual disability

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

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 Guyader et al.

A1 Journal Article 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

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de SompeleKent W. SmallMünevver Burcu CicekdalVictor Lopez SorianoEva D'haeneFadi S. ShayaSteven AgemyThijs Van der SnicktAlfredo Dueñas ReyToon Rosseel et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de SompeleKent W. SmallMünevver Burcu CicekdalVictor Lopez SorianoEva D'haeneFadi S. ShayaSteven AgemyThijs Van der SnicktAlfredo Dueñas ReyToon Rosseel et al.

Regulatory landscaping : towards improved genetic diagnosis and therapy for SATB2-associated syndrome

Lisa HamerlinckLies VantommeEva D'haeneSarah VergultBert Callewaert

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’Keefe et al.

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 B. CurrallKathryn O'Keefe et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2021

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

Maria del Rocio Pérez BacaEva JacobsLies VantommeMareike BauerMelissa BelliniClaire BeneteauNatasha BrownDavid ComanLaurenz De CockAnnelies Dheedene et al.

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 Coucke et al.

A1 Journal Article 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 Lebel et al.

A1 Journal Article in CLINICAL GENETICS

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

Naama HirschIdit DahanEva D'haeneMatan AvniSarah VergultMarta Vidal-GarcíaPamela MaginiClaudio GrazianoGiulia SeveriElena Bonora et al.

Interpreting the impact of noncoding structural variation in neurodevelopmental disorders

Eva D'haeneSarah Vergult

A1 Journal Article 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 Journal Article 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 Nes et al.

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 Gusella et al.

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 Zaeytijd et al.

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 Zaeytijd et al.

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 Zaeytijd et al.

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 Menten et al.

A1 Journal Article 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. Köhlhase et al.

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 Sadedin et al.

A1 Journal Article 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 Menten et al.

Noncoding structural variants disrupt the regulatory architecture of Rett genes

Eva D'haeneReut Bar-YaacovInbar BariahLies VantommeSien Van LooFrancisco Avila CobosKaren VerboomReut EshelRawan AlatawnaBjörn Menten et al.

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 Menten et al.

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. Szymanski et al.

A1 Journal Article 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 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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 Birnbaum et al.

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 Birnbaum et al.

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 Journal Article 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-Schwan et al.

A1 Journal Article in NATURE GENETICS

New insights into the phenotype of FARS2 deficiency

Elise VantroysAustin LarsonMarisa FriederichKaz KnightMichael A SwansonChristopher A PowellJoél SmetSarah VergultBoel De PaepeSara Seneca et al.

A1 Journal Article 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 Abbott et al.

A1 Journal Article 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

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

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

A1 Journal Article in SCIENTIFIC REPORTS

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 Journal Article 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 Tsilimbaris et al.

A1 Journal Article 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 Journal Article 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 Bongers et al.

A1 Journal Article 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 Vergult et al.

A1 Journal Article in HUMAN MUTATION

2014

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

Annelies DheedeneMICHAELA MAESSarah VergultBjörn Menten

A2 Journal Article 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 Menelaou et al.

A1 Journal Article 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 Duran et al.

A1 Journal Article 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 McIntyre et al.

A1 Journal Article 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 Journal Article 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-Aytes et al.

A1 Journal Article 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 Pyatt et al.

A1 Journal Article 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 Journal Article 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 Duran et al.

The need for transparency and good practices in the qPCR literature

Stephen A BustinVladimir BenesJeremy GarsonJan HellemansJim HuggettMikael KubistaReinhold MuellerTania NolanMichael W PfafflGregory Shipley et al.

A1 Journal Article 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 Phillips et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Array comparative genomic hybridization in male infertility

K StouffsD VandermaelenA MassartBjörn MentenSarah VergultH TournayeW Lissens

A1 Journal Article 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-Aytes et al.

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 Hansson et al.

A1 Journal Article 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 Vergult et al.

A1 Journal Article 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 Duran et al.

Nasal speech in patients with 12q15 microdeletions

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

A1 Journal Article 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-Aytes et al.

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 Stallings et al.

Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

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

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

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

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 Journal Article 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 Roy et al.

A1 Journal Article 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 Saris et al.

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