Research Explorer

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Researcher

Björn Menten

Awards & Distinctions

336 Results

2024

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

Implicit bias in diagnosing mosaicism amongst preimplantation genetic testing providers : results from a multicenter study of 36 395 blastocysts

Mina PopovicLorena BorotAline R. LorenzonAna Luiza Rossi de Castro LopesDenny SakkasBelen LledoRuth MoralesJose Antonio OrtizNikolaos PolyzosMonica Parriego et al.

A1 Journal Article in HUMAN REPRODUCTION

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

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

Pronuclear transfer rescues poor embryo development of in vitro-grown secondary mouse follicles

Antonia ChristodoulakiHaitang HeMin ZhouChloë De RooMachteld BaetensTine De PrêtreMuhammad Fakhar-I-AdilBjörn MentenAnn Van SoomDominic Stoop et al.

A1 Journal Article in HUMAN REPRODUCTION OPEN

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

2023

CRISPR/Cas9-based correction of infertility-related mutations in the germline : ready or not?

Bieke BekaertBjörn HeindryckxAnnekatrien BoelBjörn Menten

Characterization of ovarian tissue oocytes from transgender men reveals poor calcium release and embryo development, which might be overcome by spindle transfer

Antonia ChristodoulakiHaitang HeMin ZhouArantxa Cardona BarberánChloë De RooSusana Marina Chuva de Sousa LopesMachteld BaetensBjörn MentenAnn Van SoomPetra De Sutter et al.

A1 Journal Article in HUMAN REPRODUCTION

Effect of biphasic CAPA-IVM on ovarian tissue oocytes of transgender men

Muhammad Fakhar-I-AdilAntonia ChristodoulakiAnnekatrien BoelSusana Marina Chuva de Sousa LopesBjörn MentenAnn Van SoomDominic StoopChloë De RooBjörn Heindryckx

Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing

Jeffrey AaldersLaurens LégerAnthony DemolderLaura Muiño MosqueraPaul CouckeBjörn MentenJulie De BackerJolanda van Hengel

A1 Journal Article in STEM CELL RESEARCH

Inherited pathogenic variants in neurodevelopmental disorders : a potential pitfall in triobased analysis of clinical exomes

Annelies DheedeneErika D'haenensEvelien PouillieSarah DelbaereOlivier VanakkerBert CallewaertBjörn Menten

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

Griet De ClercqLies VantommeBert CallewaertBarbara DewaeleJoris VermeeschAnnelies DheedeneBjörn Menten

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 enables full characterization of previously unresolved structural variation

Griet De ClercqLies VantommeBert CallewaertAnnelies 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

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

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

Nuclear transfer overcomes poor embryo development of in vitro grown mouse oocytes

Antonia ChristodoulakiH. HeM. ZhouC. De RooM. BaetensBjörn MentenAnn Van SoomDominic StoopA. BoelBjörn Heindryckx

Retained chromosomal integrity following CRISPR-Cas9-based mutational correction in human embryos

Bieke BekaertAnnekatrien BoelLisa De WitteWinter VandenbergheMina PopovicPanagiotis StamatiadisGwenny CosemansLise TordeursAthina-Maria De LooreSusana Marina Chuva de Sousa Lopes et al.

A1 Journal Article in MOLECULAR THERAPY

Single-cell profiling identifies a novel human polyclonal unconventional T cell lineage

Lore BillietLaurenz De CockGuillem Sanchez SanchezRupert MayerGlenn GoetgelukStijn De MunterMelissa PilleJoline IngelsHanne JansenKarin Weening et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

Structural variants disrupt a critical regulatory region downstream of FOXG1

Eva D'haeneLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

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

Lisa HamerlinckEva D'haeneMaria del Rocio Pérez BacaLies VantommeNore Van LoonBjörn MentenBert CallewaertElfride De BaereSarah Vergult

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneSarah VergultNore Van LoonMaria del Rocio Pérez BacaLies VantommeMichael B VaughanElfride De BaereBert CallewaertBjörn Menten

Valuable insights after one year whole exome sequencing in a fetal/prenatal setting

Sarah DelbaereMachteld BaetensCandy KumpsEllen RoetsNOORTJE VAN OOSTRUMBert CallewaertSandra JanssensOlivier VanakkerBjörn Menten

2022

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.

Application of an ultrasensitive NGS-based blood test for the diagnosis of early-stage lung cancer : sensitivity, a hurdle still difficult to overcome

Malaïka Van der LindenBram Van GaeverLennart RamanKarim VermaelenIngel DemedtsVeerle SurmontUlrike HimpeYolande LievensLiesbeth FerdinandeFranceska Dedeurwaerdere et al.

A1 Journal Article in CANCERS

Benchmarking of long read structural variant callers using Oxford Nanopore data

Griet De ClercqBram Van GaeverLies VantommeAnnelies DheedeneBjörn Menten

Benchmarking of long-read structural variant callers using Oxford Nanopore data

Griet De ClercqBram Van GaeverLies VantommeAnnelies DheedeneBjörn Menten

Benchmarking of long-read structural variant callers using Oxford Nanopore data

Griet De ClercqBram Van GaeverLies VantommeAnnelies DheedeneBjörn Menten

Benchmarking of long-read structural variant callers using in-house generated Oxford Nanopore data

Griet De ClercqBram Van GaeverLies VantommeAnnelies DheedeneBjörn Menten

CRISPR/Cas gene editing in the human germline

Bieke BekaertAnnekatrien BoelGwenny CosemansLisa De WitteBjörn MentenBjörn Heindryckx

A1 Journal Article in SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Comparison of the positivity rate of anti-spike and anti-nucleocapsid SARS-CoV-2 IgG in asymptomatic pregnant women

Laura HeiremanMachteld BaetensBjörn MentenIsabelle DehaeneElizaveta Padalko

A1 Journal Article in JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Distinct genetic impact of CRISPR/Cas9 gene correction in human embryos compared to induced pluripotent stem cells

Bieke BekaertAnnekatrien BoelLisa De WitteGwenny CosemansLise TordeursAthina-Maria De LooreSusana Marina Chuva de Sousa LopesPetra De SutterDominic StoopPaul Coucke et al.

Evaluation of CRISPR/Cas9-induced DNA break repair outcomes in mouse and human embryos

Bieke BekaertAnnekatrien BoelLisa De WitteGwenny CosemansSusana Marina Chuva de Sousa LopesBjörn MentenBjörn Heindryckx

Expanding the phenotype of B3GALNT2-related disorders

Erika D'haenensSarah VergultBjörn MentenAnnelies DheedeneR. Frank KooyBert Callewaert

A1 Journal Article in GENES

GENType : all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction

Lisa De WitteLennart RamanMachteld BaetensAndries De KokerNico CallewaertSofie SymoensKelly TillemanFrauke Vanden MeerschautAnnelies DheedeneBjörn Menten

A1 Journal Article in HUMAN REPRODUCTION

Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI

Maoxing TangAnnekatrien BoelNoemi CastelluccioArantxa Cardona BarberánAntonia ChristodoulakiBieke BekaertMina PopovicFrauke Vanden MeerschautPetra De SutterBjörn Menten et al.

A1 Journal Article in JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Liquid biopsies for integrated cancer (differential) diagnosis : from whole-genome to targeted and from genomics to epigenomics

Malaïka Van der LindenJo Van DorpeBjörn MentenKathleen Claes

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

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss

Giulia AscariNanna D. RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeGavin ArnoJulie JacobDavid CreytensJo Van Dorpe et al.

Luminescent human iPSC-derived neurospheroids enable modeling of neurotoxicity after oxygen-glucose deprivation

Elise Van BreedamAleksandra NijakTamariche Buyle-HuybrechtJulia Di StefanoMarlies BoerenJonas GovaertsAlessandra QuartaTine SwartenbroekxEva JacobsBjörn Menten et al.

A1 Journal Article in NEUROTHERAPEUTICS

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

Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India

Rathika D. ShenoyVikram ShettyAnnelies DheedeneBjörn MentenDechamma Pandyanda NanjappaGunimala ChakrabortyPatrick SipsAnne De PaepeBert CallewaertAnirban Chakraborty

A1 Journal Article in CLEFT PALATE-CRANIOFACIAL JOURNAL

Pushing the boundaries : concurrent Hodgkin lymphoma and breast cancer treatment with preservation of pregnancy : a case report

Charlotte LejeuneDaan DierickxHans WildiersLore LannooKristel Van CalsterenVincent VandecaveyeBjörn MentenJoris VermeeschFrédéric Amant

A2 Journal Article in GYNECOLOGIC ONCOLOGY REPORTS

Shallow whole-genome sequencing : a useful, easy to apply molecular technique for CNA detection on FFPE tumor tissue : a glioma-driven study

Kim Van der EeckenMalaïka Van der LindenLennart RamanDavid CreytensFranceska DedeurwaerdereKoen De WinneLiesbeth FerdinandeMartin LammensBjörn MentenIsabelle Rottiers et al.

A1 Journal Article in VIRCHOWS ARCHIV

Shallow-depth sequencing of cell-free DNA for Hodgkin and diffuse large B-cell lymphoma (differential) diagnosis : a standardized approach with underappreciated potential

Lennart RamanMalaïka Van der LindenCiel De VriendtBliede Van den BroeckKristoff MuylleDries DeerenFranceska DedeurwaerdereSofie VerbekeAmélie DendoovenKatrien De Grove et al.

A1 Journal Article in HAEMATOLOGICA

Shallow-depth sequencing of cell-free DNA for Hodgkin and diffuse large B-cell lymphoma (differential) diagnosis: a standardized approach with underappreciated potential

Lennart RamanMalaïka Van der LindenCiel De VriendtBliede Van den BroeckKristoff MuylleDries DeerenFranceska DedeurwaerdereSofie VerbekeAmélie DendoovenKatrien De Grove et al.

U Journal Article in Haematologica

Small-scale manufacturing of neoantigen-encoding messenger RNA for early-phase clinical trials

Joline IngelsLaurenz De CockRupert MayerPam DevrekerKarin WeeningKelly HeynsNele LootensSaskia De SmetMarieke BrusseelStijn De Munter et al.

A1 Journal Article in CYTOTHERAPY

Spindle transfer rescues poor embryo development of in vitro matured ovarian tissue oocytes from transgender men

Antonia ChristodoulakiH. HeM. ZhouArantxa Cardona BarberánChloë De RooS. M. Chuva De Sousa LopesBjörn MentenAnn Van SoomPetra De SutterAnnekatrien Boel et al.

TEAD4 regulates trophectoderm differentiation upstream of CDX2 in a GATA3-independent manner in the human preimplantation embryo

Panagiotis StamatiadisGwenny CosemansAnnekatrien BoelBjörn MentenPetra De SutterDominic StoopSusana Marina Chuva de Sousa LopesFrederic LluisPaul CouckeBjörn Heindryckx

A1 Journal Article in HUMAN REPRODUCTION

The adrenergic-specific long non-coding RNA NESPR controls survival of neuroblastoma cells

Louis DelhayeEric de Bony de LavergneDries RombautLim Fang QiBieke DecaestekerLisa DepestelAmber LouwagieEva D'haenePieter-Jan VoldersNurten Yigit et al.

The feasibility of using liquid biopsies as a complementary assay for copy number aberration profiling in routinely collected paediatric cancer patient samples

Ruben Van PaemelCharlotte VandeputteLennart RamanJolien Van ThorreLeen WillemsJo Van DorpeMalaïka Van der LindenJilke De WildeAndries De KokerBjörn Menten et al.

A1 Journal Article in EUROPEAN JOURNAL OF CANCER

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

Activin A-derived human embryonic stem cells show increased competence to differentiate into primordial germ cell-like cells

Swati MishraJasin TaelmanMina PopovicLaurentijn TillemanEvi DuthooMargot Van der JeughtDieter DeforceFilip Van NieuwerburghBjörn MentenPetra De Sutter et al.

A1 Journal Article in STEM CELLS

Benchmarking of long-read structural variant callers on a recently released truth set using Oxford Nanopore data

Griet De ClercqBram Van GaeverLies VantommeAnnelies DheedeneBjörn Menten

Benchmarking of long-read structural variant callers on a recently released truth set using Oxford Nanopore data

Griet De ClercqBram Van GaeverLies VantommeAnnelies DheedeneBjörn Menten

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

Eva JacobsSarah VergultBert CallewaertBjörn Menten

Calcium analysis and embryonic development of in vitro matured oocytes from transgender men

Antonia ChristodoulakiHaitang HeArantxa Cardona BarberánChloë De RooSusana Marina Chuva de Sousa LopesBjörn MentenAnn Van SoomPetra De SutterDominic StoopAnnekatrien Boel et al.

Comparative analysis of mouse and human preimplantation development following POU5F1 CRISPR/Cas9 targeting reveals interspecies differences

Panagiotis StamatiadisAnnekatrien BoelGwenny CosemansMina PopovicBieke BekaertRamesh GuggillaMaoxing TangPetra De SutterFilip Van NieuwerburghBjörn Menten et al.

A1 Journal Article in HUMAN REPRODUCTION

Copy number and methylation profiling of cell-free DNA for tumor and prenatal diagnostics : a multi-cohort research effort

Lennart RamanJo Van DorpeBjörn Menten

Correcting a PLCζ mutation in the human germ line to overcome hereditary infertility

Bieke BekaertAnnekatrien BoelMina PopovicPanagiotis StamatiadisS M Chuva de Sousa LopesPetra De SutterBjörn MentenDominic StoopPaul CouckeBjörn Heindryckx

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia AscariNanna RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeAlfredo Dueñas ReyGavin ArnoJulie JacobDavid Creytens et al.

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss

Giulia AscariNanna D. RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMiriam BauwensMattias Van HeetveldeGavin ArnoJulie JacobDavid Creytens et al.

A1 Journal Article in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

Long-read sequencing to unravel complex structural variants of CEP78 leading to cone‐rod dystrophy and hearing loss

Giulia AscariNanna D RendtorffMarieke De BruyneJulie De ZaeytijdMichel Van LintMattias Van HeetveldeAlfredo Dueñas ReyGavin ArnoJulie JacobDavid Creytens et al.

Low feasibility of in vitro matured oocytes originating from cumulus complexes found during ovarian tissue preparation at the moment of gender confirmation surgery and during testosterone treatment for fertility preservation in transgender men

Sylvie LiermanAnnelies TolpeIlse De CrooStefanie De GheselleJustine DefreyneMachteld BaetensAnnelies DheedeneRoos ColmanBjörn MentenGuy T'Sjoen et al.

A1 Journal Article in FERTILITY AND STERILITY

Myxoid pleomorphic liposarcoma : a clinicopathologic, immunohistochemical, molecular genetic and epigenetic study of 12 cases, suggesting a possible relationship with conventional pleomorphic liposarcoma

David CreytensAndrew L. FolpeChristian KoelscheThomas MentzelLiesbeth FerdinandeJoost M. van GorpMalaïka Van der LindenLennart RamanBjörn MentenKaren Fritchie et al.

A1 Journal Article in MODERN PATHOLOGY

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

Eva D'haeneSarah VergultBjörn Menten

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Kris Van den BogaertLore LannooNathalie BrisonVincent GatinoisMachteld BaetensBettina BlaumeiserFrancois BoemerLaura BourlardVincent BoursAnne De Leener et al.

A1 Journal Article in GENETICS IN MEDICINE

Recurrent chromosomal imbalances provide selective advantage to human embryonic stem cells under enhanced replicative stress conditions

Liselot MusStéphane Van HaverMina PopovicWim TrypsteenSteve LefeverNadja ZeltnerYudelca OgandoEva JacobsGeertrui DeneckerEllen Sanders et al.

A1 Journal Article in GENES CHROMOSOMES & CANCER

SOX11 as guardian of epigenetic plasticity in neuroblastoma

Bieke DecaestekerAmber LouwagieSiebe LoontiensSara De BrouwerCarolina de Carvalho NunesGeertrui DeneckerFanny De VloedLisa DepestelJuliette RoelsKaren Verboom et al.

Structural variants disrupt a critical regulatory region downstream of FOXG1

Eva D'haeneLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

TEAD4 regulates trophectoderm differentiation upstream of CDX2 in human preimplantation embryos

Panagiotis StamatiadisAnnekatrien BoelGwenny CosemansFilip Van NieuwerburghBjörn MentenPetra De SutterDominic StoopS. M. Chuva de Sousa LopesF. Lluis

2020

A proof-of-concept study to investigate DNA repair mechanisms in the human embryo after the application of CRISPR/Cas9 gene editing in the germ line

Bieke BekaertAnnekatrien BoelLisa De WitteMina PopovicRamesh GuggillaSwati MishraGwenny CosemansLise TordeursSusana Marina Chuva de Sousa LopesPetra De Sutter et al.

Chromosomal mosaicism in human blastocysts : the ultimate diagnostic dilemma

Mina PopovicLien DhaenensAnnekatrien BoelBjörn MentenBjörn Heindryckx

A1 Journal Article in HUMAN REPRODUCTION UPDATE

Chromosomal mosaicism in human blastocysts : the ultimate diagnostic dilemma (vol 26, pg 313, 2020)

Mina PopovicLien DhaenensAnnekatrien BoelBjörn MentenBjörn Heindryckx

Correcting PLCζ mutation in the germ line to overcome transmission of hereditary infertility in mice

Bieke BekaertAnnekatrien BoelVanessa ThysPanagiotis StamatiadisSusana Marina Chuva de Sousa LopesPetra De SutterJohn ParringtonBjörn MentenDominic StoopPaul Coucke et al.

Detection of copy number alterations by shallow whole-genome sequencing of formalin-fixed, paraffin-embedded tumor tissue

Malaïka Van der LindenLennart RamanAnsel Vander TrappenAnnelies DheedeneMatthias De SmetTom SanteDavid CreytensYolande LievensBjörn MentenJo Van Dorpe et al.

A1 Journal Article in ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Germline nuclear transfer in mice may rescue poor embryo development associated with advanced maternal age and early embryo arrest

Maoxing TangMina PopovicPanagiotis StamatiadisMargot Van der JeughtRudy Van CosterDieter DeforcePetra De SutterPaul CouckeBjörn MentenDominic Stoop et al.

A1 Journal Article in HUMAN REPRODUCTION

Long noncoding RNA SILC1 is an upstream regulator of SOX11 in neuroblastoma

Amber LouwagieBieke DecaestekerEva D'haeneLouis DelhayeEric de Bony de LavergneChristophe Van NesteRogier VersteegSara EkBjörn MentenJan Koster et al.

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.

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

Elise PozzaHannah VerdinHilde DeconinckAnnelies DheedeneBjörn MentenElfride De BaereIrina Balikova

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Prenatally detected copy number variants in a national cohort : a postnatal follow-up study

Joke MuysYves JacquemynBettina BlaumeiserLaura BourlardNathalie BrisonSaskia BulkPatrizia ChiarappaAnne De LeenerMarjan De RademaekerJulie Desir et al.

A1 Journal Article in PRENATAL DIAGNOSIS

Shallow whole-genome sequencing of cell-free DNA for B-cell lymphoma diagnosis and disease monitoring : a standardized approach with underappreciated potential

Malaïka Van der LindenLennart RamanCiel De VriendtBLIEDE VAN DEN BROECKKristoff MuylleDries DeerenKathleen ClaesBjörn MentenFritz OffnerJo Van Dorpe

Shallow whole-genome sequencing of cell-free DNA for B-cell lymphoma diagnosis and disease monitoring: a standardized approach with underappreciated potential

Malaïka Van der LindenLennart RamanCiel De VriendtBliede Van den BroeckKristoff MuylleDries DeerenKathleen ClaesBjörn MentenFritz OffnerJo Van Dorpe

Shallow whole-genome sequencing of plasma cell-free DNA accurately differentiates small from non-small cell lung carcinoma

Lennart RamanMalaïka Van der LindenKim Van der EeckenKarim VermaelenIngel DemedtsVeerle SurmontUlrike HimpeFranceska DedeurwaerdereLiesbeth FerdinandeYolande Lievens et al.

A1 Journal Article in GENOME MEDICINE

Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing

Giulia AscariNanna D. RendtorffJulie De ZaeytijdValerie BaumontMarieke De BruyneMattias Van HeetveldeToon RosseelTim De PooterPeter De RijkWouter De Coster et al.

Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing

Giulia AscariNanna D. RendtorffJulie De ZaeytijdValerie BaumontMarieke De BruyneMattias Van HeetveldeToon RosseelTim De PooterPeter De RijkWouter De Coster et al.

Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing

Giulia AscariNanna D. RendtorffJulie JacobJulie De ZaeytijdValerie BaumontMarieke De BruyneToon RosseelMattias Van HeetveldeTim De PooterWouter De Coster et al.

2019

17q gain provides proliferative advantage to human embryonic stem cells under conditions of replicative stress

Liselot MusGeertrui DeneckerStéphane Van HaverNadja ZeltnerYudelca OgandoEllen SandersEva JacobsMina PopovicChristophe Van NesteSuzanne Vanhauwaert et al.

17q gain provides proliferative advantage to human embryonic stem cells under replicative stress

Liselot MusStéphane Van HaverGeertrui DeneckerNadja ZeltnerYudelca OgandoEllen SandersEva JacobsMina PopovicChristophe Van NesteSuzanne Vanhauwaert et al.

A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Simon TavernierV AthanasopoulosPATRICK VERLOOG BehrensJens StaalDelfien BogaertLeslie NaesensMarieke De BruyneSofie Van GassenEef Parthoens et al.

A1 Journal Article in NATURE COMMUNICATIONS

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

Circulating cell-free DNA for response evaluation of intravascular lymphoma

Dries DeerenMalaïka Van der LindenFranceska DedeurwaerdereLien DeleuCaressa MeertBjörn MentenJo Van Dorpe

A1 Journal Article in ANNALS OF HEMATOLOGY

Clinical experience with shallow whole genome sequencing as a detection method for Copy Number Variations

Björn MentenMaarten De SmetLennart RamanTom SanteNadine Van RoyAnnelies Dheedene

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

M. OsundijiG. CostainB. CallewaertH. GabrielT. Y. TanS. WalkerBjörn MentenA. VanlanderS. VergultM. Snell et al.

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

Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients

Greet WiemeFrederik BerrevoetAude VanlanderJo Van DorpeAnne HoorensMalaïka Van der LindenBram PartonJurgen van LimmenANN DE BRUYNEMarc De Man et al.

Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients

Greet WiemeFrederik BerrevoetAude VanlanderJo Van DorpeAnne HoorensMalaïka Van der LindenBram PartonJurgen van LimmenANN DE BRUYNEMarc De Man et al.

Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients

Greet WiemeFrederik BerrevoetAude VanlanderJo Van DorpeAnne HoorensMalaïka Van der LindenBram PartonJurgen van LimmenANN DE BRUYNEMarc De Man et al.

Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients

Greet WiemeFrederik BerrevoetAude VanlanderJo Van DorpeAnne HoorensMalaïka Van der LindenBram PartonJurgen van LimmenANN DE BRUYNEMarc De Man et al.

Exploring the contribution of gene dosage effects of 17q gain genes on hESC and neuroblastoma proliferation

Liselot MusGeertrui DeneckerStéphane Van HaverNadja ZeltnerYudelca OgandoEllen SandersEva JacobsMina PopovicChristophe Van NesteSuzanne Vanhauwaert et al.

Exploring the potential of shallow whole-genome sequencing for diagnosis and disease monitoring of lymphoma in liquid biopsy

Lennart RamanMalaïka Van der LindenCiel De VriendtBliede Van den BroeckKristoff MuylleDries DeerenBjörn MentenFritz OffnerJo Van Dorpe

Extended in vitro culture of human embryos demonstrates the complex nature of diagnosing chromosomal mosaicism from a single trophectoderm biopsy

Mina PopovicL. DhaenensJ. TaelmanAnnelies DheedeneM. BialeckaPetra De SutterS. M. Chuva de Sousa LopesBjörn MentenBjörn Heindryckx

A1 Journal Article in HUMAN REPRODUCTION

Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia

Gayle P PouliotJames DegarLaura HinzeBose KochupurakkalChau D VoMelissa A BurnsLisa MoreauChirag GanesaJustine RoderickSofie Peirs et al.

A1 Journal Article in PLOS ONE

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.

PCR based target enrichment for variant confirmation, gene panels and multiplex PCR sample tracking in a whole exome sequencing workflow

Frauke CoppietersThalia Van LaethemMatthias De SmetPaul CouckeElfride De BaereKathleen ClaesBjörn MentenJo VandesompeleSteve Lefever

Preface : in silico pipeline for accurate cell-free fetal DNA fraction prediction

Lennart RamanMachteld BaetensMatthias De SmetAnnelies DheedeneJo Van DorpeBjörn Menten

A1 Journal Article in PRENATAL DIAGNOSIS

Preimplantation genetic diagnosis for chromosomal rearrangements using shallow whole genome sequencing at the blastocyst stage

Annelies DheedeneIlse De CrooEtienne Van den AbbeelPetra De SutterKelly TillemanBjörn Menten

SOX11 as mediator of the adrenergic cell state in NB

Bieke DecaestekerAmber LouwagieSara De BrouwerVolodimir OlexioukGeertrui DeneckerCarolina de Carvalho NunesKaren VerboomMoritz GartlgruberWouter Van LoockeElena Afanasyeva et al.

SOX11 is a key epigenetic regulator in the adrenergic MYCN amplified neuroblastoma

Amber LouwagieBieke DecaestekerSara De BrouwerGeertrui DeneckerCarolina de Carvalho NunesVolodimir OlexioukKaren VerboomMoritz GartlgruberWouter Van LoockeElena Afanasyeva et al.

SOX11 is a key epigenetic regulator in the adrenergic MYCN amplified neuroblastoma

Amber LouwagieBieke DecaestekerCarolina de Carvalho NunesGeertrui DeneckerVolodimir OlexioukKaren VerboomMoritz GartlgruberWouter Van LoockeElena AfanasyevaPauline Depuydt et al.

Shallow whole genome sequencing on circulating cell-free DNA in pediatric cancer patients

Charlotte VandeputteJolien Van ThorreRuben Van PaemelAndries De KokerLeen WillemsJo Van DorpeMalaïka Van der LindenJilke De WildeBjörn MentenL. van Zogchel et al.

Shallow whole genome sequencing on circulating cell-free DNA in pediatric cancer patients

Charlotte VandeputteJolien Van ThorreRuben Van PaemelAndries De KokerLeen WillemsJo Van DorpeMalaïka Van der LindenJilke De WildeBjörn MentenLieke van Zogchel et al.

Shallow whole genome sequencing on circulating cell-free DNA in pediatric cancer patients

Charlotte VandeputteJolien Van ThorreRuben Van PaemelAndries De KokerLeen WillemsJo Van DorpeMalaïka Van der LindenJilke De WildeBjörn MentenLieke van Zogchel et al.

Successful copy number alteration profiling using circulating cell-free tumor DNA as a non-invasive alternative for tissue biopsies in pediatric cancer patients

Charlotte VandeputteJolien Van ThorreRuben Van PaemelAndries De KokerLeen WillemsJo Van DorpeMalaïka Van der LindenJilke De WildeBjörn MentenLieke van Zogchel et al.

Two novel probands with Myhre syndrome identified through WES

Ilse MeerschautAude BeyensWouter SteyaertRiet De RyckeBjörn MentenKatrien BonteTine De BackerSandra JanssensFransiska MalfaitJoseph Panzer et al.

WNT inhibition and increased fibroblast growth factor signaling promotes derivation of less heterogeneous primed human embryonic stem cells, compatible with differentiation

Jasin TaelmanMina PopovicMonika BialeckaLaurentijn TillemanSharat WarrierMargot Van der JeughtBjörn MentenDieter DeforcePetra De SutterFilip Van Nieuwerburgh et al.

A1 Journal Article in STEM CELLS AND DEVELOPMENT

WisecondorX : improved copy number detection for routine shallow whole-genome sequencing

Lennart RamanAnnelies DheedeneMatthias De SmetJo Van DorpeBjörn Menten

A1 Journal Article in NUCLEIC ACIDS RESEARCH

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.

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 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

Chromosomal mosaicism in human blastocysts : the ultimate challenge of preimplantation genetic testing?

Mina PopovicAnnelies DheedeneCHRISTODOULOS CHRISTODOULOUJasin TaelmanLien DhaenensFilip Van NieuwerburghDieter DeforceEtienne Van den AbbeelPetra De SutterBjörn Menten et al.

A1 Journal Article in HUMAN REPRODUCTION

Comparative analysis of naive, primed and ground state pluripotency in mouse embryonic stem cells originating from the same genetic background

Sabitri GhimireMargot Van der JeughtJitesh NeupaneMatthias S RoostJasper AnckaertMina PopovicFilip Van NieuwerburghPieter MestdaghJo VandesompeleDieter Deforce et al.

A1 Journal Article in SCIENTIFIC REPORTS

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

Detection of copy number alterations using shallow whole genome sequencing on formalin-fixed paraffin-embedded tumor tissue

Malaïka Van der LindenLennart RamanAnsel Vander TrappenAnnelies DheedeneMatthias De SmetTom SanteDavid CreytensBjörn MentenJo Van DorpeNadine Van Roy

Detection of copy number alterations using shallow whole genome sequencing on formalin-fixed paraffin-embedded tumor tissue

Malaïka Van der LindenLennart RamanAnsel Vander TrappenAnnelies DheedeneMatthias De SmetTom SanteDavid CreytensBjörn MentenJo Van DorpeNadine Van Roy

Exploring the contribution of gene dosage effects of 17Q gain on ESC and neuroblastoma proliferation

Liselot MusGeertrui DeneckerNadja ZeltnerYudelca OgandoStéphane Van HaverEllen SandersEva JacobsMina PopovicChristophe Van NesteSuzanne Vanhauwaert et al.

Exploring the contribution of gene dosage effects of 17q gain genes on hESC and neuroblastoma proliferation

Liselot MusGeertrui DeneckerStéphane Van HaverNadja ZeltnerYudelca OgandoEllen SandersEva JacobsMina PopovicChristophe Van NesteSuzanne Vanhauwaert et al.

Exploring the contribution of gene dosage effects of 17q gain on ESC and neuroblastoma proliferation

Liselot MusGeertrui DeneckerNadja ZeltnerYudelca OgandoStéphane Van HaverEllen SandersEva JacobsMina PopovicChristophe Van NesteSuzanne Vanhauwaert et al.

Exploring the contribution of gene dosage effects of 17q gain on ESC and neuroblastoma proliferation

Liselot MusGeertrui DeneckerNadja ZeltnerYudelca OgandoStéphane Van HaverEllen SandersEva JacobsMina PopovicChristophe Van NesteSuzanne Vanhauwaert et al.

Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients

Brecht GuillemynDelfien SyxToon RosseelH KayserliliAM Cueto-GonzálezL Van MaldergemBjörn MentenAnne De PaepePaul CouckeFransiska Malfait et al.

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT

Dimitri HemelsoetArnaud VanlanderJoél SmetElise VantroysMarjan AcouIngeborg GoethalsTom SanteSara SenecaBjörn MentenRudy Van Coster

A1 Journal Article in NEUROLOGY-GENETICS

PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia

Ingrid M AriësKimberly BodaarSalmaan A KarimTriona Ni ChonghaileLaura HinzeMelissa A BurnsMaren PfirrmannJames DegarJack T LandriganSebastian Balbach et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

SOX11 is a transcriptional circuit dosage sensitive transcription factor controlling SWI/SNF components

Bieke DecaestekerSara De BrouwerGeertrui DeneckerFanny De VloedWouter Van LoockeSuzanne VanhauwaertPauline DepuydtMoritz GartlgruberJolien De WynGenevieve Laureys et al.

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

Shallow whole genome sequencing allows successful copy number profiling in formalin-fixed paraffin-embedded material in neuroblastoma patients

Charlotte VandeputteRuben Van PaemelBram De WildeMalaïka Van der LindenJo Van DorpeBjörn MentenFranki SpelemanNadine Van RoyKatleen De Preter

Targeted genomic screen reveals focal long non-coding RNA copy number alterations in cancer cell lines

Pieter-Jan VoldersSteve LefeverShalina BauteJustine NuytensKatrien VanderheydenBjörn MentenPieter MestdaghJo Vandesompele

A2 Journal Article in NON-CODING RNA

The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations

Joke MuysBettina BlaumeiserYves JacquemynClaude BandelierNathalie BrisonSaskia BulkPatrizia ChiarappaWinnie CourtensAnne De LeenerMarjan De Rademaeker et al.

A1 Journal Article in PRENATAL DIAGNOSIS

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

The mutational landscape of MYCN, Lin28b and ALKF1174L driven murine neuroblastoma mimics human disease

Bram De WildeAnneleen BeckersSven LindnerKristina AlthoffKatleen De PreterPauline DepuydtPieter MestdaghTom SanteSteve LefeverFalk Hertwig et al.

A2 Journal Article in ONCOTARGET

The neuroblastoma-specific lncRNA NESPR activates PHOX2B expression and is essential for neuroblastoma cell survival

Dries RombautTiago França BrazaoLouis DelhayeEva D'haeneGiorgio MilazzoRoberto CiaccioNurten YigitCeline EveraertMatthias FischerThorsten Simon et al.

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

Comprehensive comparison of inner cell mass and trophectoderm reveals the complex nature of chromosomal mosaicism in human embryos

Mina PopovicAnnelies DheedeneCHRISTODOULOS CHRISTODOULOUMargot Van der JeughtFilip Van NieuwerburghDieter DeforcePetra De SutterEtienne Van den AbbeelBjörn MentenBjörn Heindryckx

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability

Ruben Van PaemelPauline De BruyneSaskia van der StraatenMarleen D'HondtUrlien FränkelAnnelies DheedeneBjörn MentenBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Direct comparison of distinct naive pluripotent states in human embryonic stem cells

Sharat WarrierMargot Van der JeughtGalbha DuggalLaurentijn TillemanElla SutherlandJasin TaelmanMina PopovicSylvie LiermanSusana Marina Chuva de Sousa LopesAnn Van Soom et al.

A1 Journal Article in NATURE COMMUNICATIONS

FOXP1-related intellectual disability syndrome : a recognisable entity

Ilse MeerschautDaniel RochefortNicole RevençuJustine PètreChristina CorselloGuy A RouleauFadi F HamdanJacques L MichaudJenny MortonJessica Radley et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Fertility in Trans Persons

Chloë De RooJustine DefreynePetra De SutterKelly TillemanJoz MotmansBoudewijn KreukelsBjörn MentenGuy T'SjoenNora van Mello

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

NR4A2 causes an autism spectrum disorder

Helene VerhelstPatrick VerlooAnnelies DheedeneBert CallewaertBjörn Menten

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

Pancreatic cancer : hope to improve prognosis through thorough analysis of DNA and RNA biomarkers for detection and therapy monitoring in liquid biopsies

Greet WiemeFrederik BerrevoetAude VanlanderMarc De ManKaren GeboesJo Van DorpeAnne HoorensMalaïka Van der LindenJurgen van LimmenANN DE BRUYNE et al.

Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage

CHRISTODOULOS CHRISTODOULOUAnnelies DheedeneBjörn HeindryckxFilip Van NieuwerburghDieter DeforcePetra De SutterBjörn MentenEtienne Van den Abbeel

A1 Journal Article in FERTILITY AND STERILITY

SOX11 acts as part of the MYCN-WEE1 regulatory protein complex implicated in neuroblastoma

Bieke DecaestekerSara De BrouwerFanny De VloedGeertrui DeneckerSuzanne VanhauwaertJolien De WynGenevieve LaureysBjörn MentenPauline DepuydtJo Vandorpe et al.

SOX11 acts as part of the MYCN-WEE1 regulatory protein complex implicated in neuroblastoma

Bieke DecaestekerSara De BrouwerFanny De VloedGeertrui DeneckerSuzanne VanhauwaertJolien De WynGenevieve LaureysBjörn MentenPauline DepuydtPatrick Reynolds et al.

Shallow whole genome sequencing on circulating cell-free DNA allows reliable non-invasive copy number profiling in neuroblastoma patients

Nadine Van RoyMalaïka Van der LindenPauline DepuydtBjörn MentenAnnelies DheedeneCharlotte VandeputteJo Van DorpeGenevieve LaureysMarjolijn RenardTom Sante et al.

Shallow whole genome sequencing on circulating cell-free DNA allows reliable noninvasive copy-number profiling in neuroblastoma patients

Nadine Van RoyMalaïka Van der LindenBjörn MentenAnnelies DheedeneCharlotte VandeputteJo Van DorpeGenevieve LaureysMarleen RenardTom SanteTim Lammens et al.

A1 Journal Article in CLINICAL CANCER RESEARCH

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

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

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 modeling of cell lines and zebrafish to study the TLX1-PHF6 cooperative interrelationship in T-cell acute lymphoblastic leukemia

Siebe LoontiensKaat DurinckNina De RockerAnnekatrien BoelEls JanssensSuzanne VanhauwaertPieter RondouCharles De BockInge Van de WalleFinola Moore et al.

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

Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1

Kristien PeetersPaulius PalaimaAna L Pelayo-NegroAntonio GarcíaElena GallardoRosario García-BarredoLigia MateiuJonathan BaetsBjörn MentenEls De Vriendt et al.

A1 Journal Article in ANNALS OF NEUROLOGY

Combined OXPHOS deficiencies caused by defects in transcription or translation due to nuclear gene dysfunctions and pharmacological compounds

Arnaud VanlanderRudy Van CosterBjörn Menten

Detection of copy number aberrations in cell free DNA from plasma of neuroblastoma patients using shallow massive parallel sequencing

Katleen De PreterNadine Van RoyBjörn MentenAnnelies DheedeneGenevieve LaureysBram De WildeFranki Speleman

Development of a blood test for selection of lung cancer patients who could benefit from immunotherapy.

Malaïka Van der LindenKarim VermaelenIngel DemedtsVeerle SurmontKathleen ClaesBjörn MentenJo Van Dorpe

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

FOXP1-related intellectual disability syndrome : a recognizable entity

Ilse MeerschautJ PètreN RevencuNELE BOCKAERTAnn OostraOlivier VanakkerM VelinovTJ de RavelD MekahliKK Vaux et al.

Flexible analysis of digital PCR experiments using generalized linear mixed models

Matthijs VynckJo VandesompeleNele NijsBjörn MentenAriane De GanckOlivier Thas

A2 Journal Article in BIOMOLECULAR DETECTION AND QUANTIFICATION

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

Massive parallel sequencing uncovers chromosomal mosaicism in human embryonic stem cells in both primed and naive culture conditions

Mina PopovicMargot Van der JeughtFranki SpelemanFilip Van NieuwerburghPetra De SutterBjörn MentenBjörn Heindryckx

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

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemyslaw SzafranskiTomasz GambinAvinash V DharmadhikariKadir Caner AkdemirShalini N JhangianiJennifer SchuetteNihal GodiwalaSvetlana A YatsenkoJessica SebastianSuneeta Madan-Khetarpal et al.

A1 Journal Article in HUMAN GENETICS

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

Performance of a TthPrimPol-based whole genome amplification kit for copy number alteration detection using massively parallel sequencing

Lieselot DeleyeDieter De ConinckAnnelies DheedenePetra De SutterBjörn MentenDieter DeforceFilip Van Nieuwerburgh

A1 Journal Article in SCIENTIFIC REPORTS

Preimplantation genetic diagnosis (PGD) for translocation carriers using whole genome screening by microarray analysis at the blastocyst stage

CHRISTODOULOS CHRISTODOULOUAnnelies DheedeneIlse De CrooBjörn HeindryckxLieselot DeleyeFilip Van NieuwerburghDieter DeforcePetra De SutterBjörn MentenEtienne Van den Abbeel

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenKaren Heath et al.

RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome

Filomeen HaerynckPATRICK VERLOODelfien BogaertJoél SmetArnaud VanlanderVictoria Bordon MariaHelene VerhelstRudy Van CosterBjörn MentenMelissa Dullaers

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

The genomic region encompassing the overlapping SOX11 and Lnc-SOX11-1:1 loci exhibits a complex DNA copy number and mRNA expression pattern

Bieke DecaestekerSara De BrouwerRobrecht CannoodtDries RombautWouter Van LoockeAnnelies FieuwFanny De VloedPieter-Jan VoldersBjörn MentenRogier Versteeg et al.

Uncovering the novel role of mTORC2 subunit of the PI3K/AKT/mTORC pathway in establishing naive pluripotency in human embryonic stem cells

Sharat WarrierMargot Van der JeughtGalbha DuggalJasin TaelmanSylvie LiermanSusana Marina Chuva de Sousa LopesAnn Van SoomLuc PeelmanFilip Van NieuwerburghDieter De Coninck et al.

Zebrafish collagen type I: molecular and biochemical characterization of the major structural protein in bone and skin

Charlotte GistelinckR GioiaA GagliardiF TonelliL MarcheseL BianchiC LandiL BiniAnn HuysseunePaul Witten et al.

A1 Journal Article in SCIENTIFIC REPORTS

2015

Alternative routes to induce naive pluripotency in human embryonic stem cells

Galbha DuggalSharat WarrierSabitri GhimireDorien BroekaertMargot Van der JeughtSylvie LiermanTom DerooLuc PeelmanAnn Van SoomMaria Cornelissen et al.

A1 Journal Article in STEM CELLS

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

Comparative analysis of different culture conditions inducing naive pluripotency in human embryonic stem cells

Sharat WarrierGalbha DuggalJasin TaelmanSylvie LiermanS Chuva de Sousa LopesAnn Van SoomLuc PeelmanFilip Van NieuwerburghDieter De ConinckBjörn Menten et al.

Development of a sequence analysis pipeline for variant detection and interpretation

Tom SanteBjörn Menten

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

In vitro human embryonic stem cell hematopoiesis mimics MYB-independent yolk sac hematopoiesis

Stijn VanheeKatrien De MulderYasmine Van CaeneghemGreet VerstichelNadine Van RoyBjörn MentenImke VelgheJan PhilippéDominique De BleserBart Lambrecht et al.

A1 Journal Article in HAEMATOLOGICA

Phenotypic and molecular insights into CASK-related disorders in males

Ute MoogTatjana BierhalsKristina BrandJan BautschSaskia BiskupThomas BruneJonas DeneckeChristine E de Die-SmuldersChristina EversMaja Hempel et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenKaren E Heath et al.

A1 Journal Article in SCIENTIFIC REPORTS

Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenKaren Heath et al.

Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenJosé Luis Gómez-Skarmeta et al.

Redefining the MED13L syndrome

Abidemi AdegbolaLuciana MusanteBert CallewaertPatricia MacielHao HuBertrand IsidorSylvie Picker-MinhCedric Le CaignecBarbara Delle ChiaieOlivier Vanakker et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

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

Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts

Lieselot DeleyeAnnelies DheedeneDieter De ConinckTom SanteCHRISTODOULOS CHRISTODOULOUBjörn HeindryckxEtienne Van den AbbeelPetra De SutterDieter DeforceBjörn Menten et al.

A1 Journal Article in FERTILITY AND STERILITY

The H3K27me3 demethylase UTX is a gender-specific tumor suppressor in T-cell acute lymphoblastic leukemia

Joni Van der MeulenViraj SanghviKonstantinos MavrakisKaat DurinckFang FangFilip MatthijssensPieter RondouMonica RosenTim PietersPeter Vandenberghe et al.

A1 Journal Article in BLOOD

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

Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method

Lieselot DeleyeDieter De ConinckCHRISTODOULOS CHRISTODOULOUTom SanteAnnelies DheedeneBjörn HeindryckxEtienne Van den AbbeelPetra De SutterBjörn MentenDieter Deforce et al.

A1 Journal Article in SCIENTIFIC REPORTS

2014

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

Julien ThevenonPatrick CallierHélène PoquetIben BacheBjörn MentenValérie MalanMaria Luigia CavaliereJean-Paul GirodChristel Thauvin-RobinetSalima El Chehadeh et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

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

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

Paul Daniel BradyBarbara Delle ChiaeieGabrielle ChristenhuszKris DierickxKris Van Den BogaertBjörn MentenSandra JanssensPaul DefoortEllen RoetsELKE SLEURS et al.

A1 Journal Article in GENETICS IN MEDICINE

Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability

Barbara Oehl-JaschkowitzOlivier VanakkerAnne De PaepeBjörn MentenThomas MartinGeorg WeberAlexander ChristmannRomain KrierSimone ScheidSusan E McNerlan et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development

Dorien BaetensWilhelm MladenovBarbara Delle ChiaeieBjörn MentenAn DesloovereVioleta IotovaBert CallewaertErik Van LaeckePiet HoebekeElfride De Baere et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Olivier VanakkerCatheline VilainKatrien JanssensNathalie Van der AaGuillaume SmitsClaude BandelierBettina BlaumeiserSaskia BulkJean-Hubert CabergAnne De Leener et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

In vitro human embryonic stem cell hematopoiesis mimics MYB independent yolk sac hematopoiesis

Stijn VanheeKatrien De MulderYasmine Van CaeneghemNadine Van RoyBjörn MentenImke VelgheJan PhilippéTom TaghonGeorges LeclercqTessa Kerre et al.

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

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Robert KopajtichThomas J NichollsJoanna RorbachMetodi D MetodievPeter FreisingerHanna MandelArnaud VanlanderDaniele GhezziRosalba CarrozzoRobert W Taylor et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3

Hannah VerdinAna Fernández-MiñánKim De LeeneerLiza BormsSandra JanssensBert CallewaertFransiska MalfaitAriana KariminejadKATHLEEN DE WAELEInge François et al.

Two siblings with myopathy, mild mental retardation and combined OXPHOS deficiencies caused by a mutation in the gene encoding asparaginyl tRNA synthetase, NARS2

Arnaud VanlanderM MinczukTom SanteJoél SmetBoel De PaepeLinda De MeirleirBjörn MentenRudy Van Coster

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

A link between host plant adaptation and pesticide resistance in the polyphagous spider mite Tetranychus urticae

Wannes DermauwNicky WybouwStephane RombautsBjörn MentenJohn VontasMiodrag GrbićRichard M ClarkRené FeyereisenThomas Van Leeuwen

A1 Journal Article in PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CMYB expression during human in vitro hematopoiesis

Stijn VanheeYasmine Van CaeneghemKatrien De MulderImke VelgheSylvie TaveirneNadine Van RoyBjörn MentenSylvia SnauwaertGreet VerstichelMelissa Dullaers et al.

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

Focal DNA copy number changes in neuroblastoma target MYCN regulated genes

Candy KumpsAnnelies FieuwPieter MestdaghBjörn MentenSteve LefeverFilip PattynSara De BrouwerTom SanteJohannes Hubertus SchulteAlexander Schramm et al.

A1 Journal Article in PLOS ONE

LNCipedia : a database for annotated human lncRNA transcript sequences and structures

Pieter-Jan VoldersKenny HelsensXiaowei WangBjörn MentenLennart MartensKris GevaertJo VandesompelePieter Mestdagh

A1 Journal Article in NUCLEIC ACIDS RESEARCH

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.

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

Hannah VerdinBarbara D'haeneDiane BeysenYana NovikovaBjörn MentenTom SantePablo LapunzinaJulian NevadoClaudio MB CarvalhoJames R Lupski et al.

A1 Journal Article in PLOS GENETICS

Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain

Hannah VerdinBarbara D'haeneDiane BeysenYana NovikovaBjörn MentenTom SantePablo LapunzinaJulian NevadoClaudia CarvalhoJames Lupski et al.

2012

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

Sarah VergultAndrew DauberBarbara Delle ChiaeieElke 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

BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients

Asma TliliAlexander HoischenClémentine RipollEva BenabouAnne BadelAnne RonanRenaud TouraineYann GrattauSamantha StoraBregje van Bon et al.

A1 Journal Article in MOLECULAR NEUROBIOLOGY

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

Isolation of disseminated neuroblastoma cells from bone marrow aspirates for pretreatment risk assessment by array comparative genomic hybridization

Mado VandewoestyneCandy KumpsKatrien SwertsBjörn MentenTim LammensJan PhilippéKatleen De PreterGenevieve LaureysNadine Van RoyFranki Speleman et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CANCER

Large-scale and targeted genomic screen reveals focal lncRNA copy number alterations in cancer cells

Pieter-Jan VoldersPieter MestdaghBjörn MentenJo Vandesompele

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.

Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes

Wen LiXianming WangWenxia FanPing ZhaoYau-Chi ChanShen ChenShiqiang ZhangXiangpeng GuoYa ZhangYanhua Li et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

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

Targeted expression of mutated ALK induces neuroblastoma in transgenic mice

Lukas C HeukampTheresa ThorAlexander SchrammKatleen De PreterCandy KumpsBram De WildeAndrea OderskyMartin PeiferSven LindnerAnnika Spruessel et al.

A1 Journal Article in SCIENCE TRANSLATIONAL MEDICINE

2011

4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome

Goran CuturiloBjörn MentenAleksandar KrsticDanijela DrakulicIda JovanovicVojislav ParezanovicMilena Stevanovic

A1 Journal Article in EUROPEAN JOURNAL OF PEDIATRICS

A visualization platform for interpretation of structural genomic data

Tom SanteSarah VergultBjörn Menten

Anti-NMDA-receptor encephalitis in a 3 year old patient with chromosome 6p21.32 microdeletion including the HLA cluster

Helene VerhelstPATRICK VERLOOKarlien DhondtBoel De PaepeBjörn MentenJosep DalmauRudy Van Coster

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Machteld BaetensLut Van LaerKim De LeeneerJan HellemansJoachim De SchrijverHendrik Van de VoordeMarjolijn RenardHal DietzRonald V LacroBjörn Menten et al.

A1 Journal Article in HUMAN MUTATION

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.

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

Barbara D'haeneFrançoise MeireIlse ClaerhoutHester Y KroesAstrid PlompYvonne H ArensThomy de RavelIngele CasteelsSarah De JaegereSally Hooghe et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY

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

Sarah VergultKaren BuysseBarbara Delle ChiaeieSandra JanssensOlivier VanakkerRudy Van CosterAnne De PaepeFranki SpelemanBjörn Menten

High-resolution breakpoint mapping of 10 regulatory and 32 FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haeneYana NovikovaPablo LapunzinaJulian NevadoBjörn MentenElfride De Baere

High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haenePablo LapunzinaJulian NevadoBjörn MentenElfride De Baere

High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haeneYana NovikovaPablo LapunzinaJulian NevadoBjörn MentenElfride De Baere

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.

Karyotyping, is it worthwhile in transsexualism?

Adrien InoubliGreta De CuypereRobert RubensGUNTER HEYLENSEls ElautEva Van CaenegemBjörn MentenGuy T'Sjoen

A1 Journal Article in JOURNAL OF SEXUAL MEDICINE

Klinische en genetische aspecten van het syndroom van Turner

Barbara Delle ChiaeieBjörn MentenAnne De PaepeJean De SchepperSandra Janssens

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain

Hannah VerdinBarbara D'haeneYana NovikovaDiane BeysenPablo LapunzinaJulian NevadoClaudia CarvalhoJames LupskiBjörn MentenElfride De Baere

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

Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

Françoise MeireIsabelle DelpierreCecile BrachetFrançoise RoulezChrisitan Van NechelFanny DepasseCatherine ChristopheBjörn MentenElfride De Baere

A1 Journal Article in MOLECULAR VISION

The influence of early embryo traits on human embryonic stem cell derivation efficiency

Thomas O'LearyBjörn HeindryckxSylvie LiermanMargot Van der JeughtBjörn MentenDieter DeforceMaria CornelissenSusana Chuva de Sousa LopesPetra De Sutter

A1 Journal Article in STEM CELLS AND DEVELOPMENT

2010

An integrative genomics screen uncovers ncRNA T-UCR functions in neuroblastoma tumours

Pieter MestdaghErik FredlundFilip PattynAli RihaniTom Van MaerkenJoëlle VermeulenCandy KumpsBjörn MentenKatleen De PreterAlexander Schramm et al.

An integrative genomics screen uncovers ncRNA T-UCR functions in neuroblastoma tumours

Pieter MestdaghE FredlundFilip PattynAli RihaniTom Van MaerkenJoëlle VermeulenCandy KumpsBjörn MentenKatleen De PreterA Schramm et al.

A1 Journal Article in ONCOGENE

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

Hilde Van EschElisabeth M RosserSandra JanssensIngrid Van IngelghemBart LoeysBjörn Menten

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

B ThienpontF BenaJ BreckpotN PhilipBjörn MentenH Van EschE ScalaisJM SalamoneCT FongJL Kussmann et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Genotype-Phenotype Correlation in Eight New Patients With a Deletion Encompassing 2q31.1

D MitterBarbara Delle ChiaeieHJ LudeckeG Gillessen-KaesbachA BohringJ KohlhaseA CaliebeR SiebertA RopkeMA Ramos-Arroyo et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Haploinsufficiency of TAB2 causes congenital heart defects in humans

Bernard ThienpontLitu ZhangAlex V PostmaJeroen BreckpotLeon-Charles TrancheventPeter Van LooKjedl MollgardNiels TommerupIben BacheZeynep Tumer et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haenePablo LapunzinaJulian NevadoBjörn MentenElfride De Baere

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.

Preconceptueel en prenataal genetisch advies

Barbara Delle ChiaeieBjörn MentenAnne De PaepeSandra Janssens

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

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

Temple-Baraitser syndrome: a rare and possibly unrecognized condition

Adeline JacquinetMarion GérardMichael T GabbettLéon RausinJean-Paul MissonBjörn MentenGeert MortierLionel Van MaldergemAlain VerloesFrançoois-Guillaume Debray

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Toepassing van microarray-analyse in de genetische diagnostiek

Björn MentenKaren BuysseGeert MortierAnne De PaepeFranki Speleman

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

2009

Aicardi syndrome in a male patient

S AndersonBjörn MentenM von KogelenbergS RobertsonM WagingerHJ MentzelU BrandlG SkirlP Willems

A1 Journal Article in NEUROPEDIATRICS

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples

Björn MentenKatrien SwertsBarbara Delle ChiaeieSandra JanssensKaren BuysseJan PhilippéFranki Speleman

A1 Journal Article in BMC MEDICAL GENETICS

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome

Vared ShkalimHagit N BarisGavriel GalRuth GleissShlomo CalderonMarja WesselsAnneke Maat-KievitBjörn MentenElfride De BaereRaoul CM Hennekam et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

Karen BuysseBarbara Delle ChiaeieRudy Van CosterBart LoeysAnne De PaepeGeert MortierFranki SpelemanBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

Barbara D'haeneC AttanasioDiane BeysenJ DostieE LemireP BouchardM FieldK JonesB LorenzBjörn Menten et al.

A1 Journal Article in PLOS GENETICS

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals

EK BijlsmaACJ GijsbersJHM Schuurs-HoeijmakersA van HaeringenDEF van de PutteBM AnderlidJ LundinP LapunzinaLAP JuradoBarbara Delle Chiaeie et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der AaLiesbeth RoomsGeert VandeweyerJenneke van den EndeEdwin ReyniersMarco FicheraCorrado RomanoBarbara Delle ChiaeieGeert MortierBjörn Menten et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

BWM van BonHC MeffordBjörn MentenDA KoolenAJ SharpWM NillesenJW InnisTJL de RavelCL MercerM Fichera et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region (vol 45, pg 672, 2008)

Karen BuysseA CrepelBjörn MentenFilip PattynF AntonacciJA VeltmanLA LarsenZ TumerA de KleinI van de Laar et al.

Myhre syndrome: in search of the causal gene

Sarah VergultMarleen SimonBarbara Delle ChiaeieAli RihaniFranki SpelemanGeert MortierBjörn Menten

Myhre syndrome: in search of the causal gene

Sarah VergultMarleen SimonBarbara Delle ChiaeieAli RihaniFranki SpelemanGeert MortierBjörn Menten

Smoothing waves in array CGH tumor profiles

Mark A van de WielRebecca BrosensPaul HC EilersCandy KumpsGerrit A MeijerBjörn MentenErik SistermansFranki SpelemanMarieke E TimmermanBauke Ylstra

A1 Journal Article in BIOINFORMATICS

The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height

Karen BuysseWilliam ReardonLakshmi MehtaTeresa CostaCarrie FagerstromDaniel J KingsburyGeorge AnadiotisBarbara C McGillivrayJan HellemansNicole de Leeuw et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Unusual 8p inverted duplication deletion with telomere capture from 8q

Karen BuysseF AntonacciBert CallewaertBart LoeysUlrike FränkelVictoria SiuGeert MortierFranki SpelemanBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

2008

Array CGH: een nieuwe revolutionaire techniek in de detectie van chromosomale defecten bij kinderen met mentale retardatie en aangeboren afwijkingen

Björn MentenKaren BuysseGeert MortierFranki Speleman

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

Copy number alterations and copy number variation in cancer: close encounters of the bad kind

Franki SpelemanCandy KumpsKaren BuysseBruce PoppeBjörn MentenKatleen De Preter

A1 Journal Article in CYTOGENETIC AND GENOME RESEARCH

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

Karen BuysseBjörn MentenAnn OostraSylvie TavernierGeert MortierFranki Speleman

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of 2 putative critical segments of 17q gain in neuroblastoma through integrative genomics

Jo VandesompeleEvi MichelsKatleen De PreterBjörn MentenAlexander SchrammAngelika EggertPeter F AmbrosValérie CombaretNadine FrancotteFrancesca Antonacci et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CANCER

Low-cost dedicated mini-arrays for high-throughput analysis of DNA copy-number alterations in neuroblastoma

Katleen De PreterBjörn MentenSara De BrouwerCandy KumpsEvi MichelsNadine Van RoyJo VandesompeleFranki Speleman

A1 Journal Article in CANCER LETTERS

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region

Karen BuysseA CREPELBjörn MentenFilip PattynF ANTONACCIJ VELTMANL LARSENZ TüMERA DE KLEINI VAN DE LAAR et al.

A1 Journal Article in Journal of Medical Genetics

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

HC MEFFORDAJ SHARPC BAKERA ITSARAZS JIANGKaren BuysseSW HUANGVK MALONEYJA CROLLAD BARALLE et al.

A1 Journal Article in NEW ENGLAND JOURNAL OF MEDICINE

2007

Array CGH analysis of subnanogram quantities of DNA using whole genome amplification: opportunities for detection of copy number alterations in Hodgkin's lymphoma

Tom FeysBart PoppeBruno VerhasseltPascale De PaepeBjörn MentenJo VandesompeleNadine Van RoyAnne De PaepeFranki Speleman

ArrayCGH based classification of neuroblastoma into genomic subgroups

Sara De BrouwerEvi MichelsJo VandesompeleKatleen De PreterJasmien HoebeeckJoëlle VermeulenAlexander SchrammJan J MolenaarBjörn MentenBarbara Marques et al.

ArrayCGH-based classification of neuroblastoma into genomic subgroups

Evi MichelsJo VandesompeleKatleen De PreterJasmien HoebeeckJoëlle VermeulenAlexander SchrammJan J MolenaarBjörn MentenBarbara MarquesRaymond L Stallings et al.

A1 Journal Article in GENES CHROMOSOMES & CANCER

High resolution DNA copy number analysis of constitutional chromosomal aberrations in human genomic disorders

Björn MentenF Speleman

High resolution tiling-path BAC array deletion mapping suggests commonly involved 3p21-p22 tumor suppressor genes in neuroblastoma and more frequent tumors

Jasmien HoebeeckEvi MichelsBjörn MentenNadine Van RoyAngelika EggertAlexander SchrammKatleen De PreterNurten YigitEls De SmetAnne De Paepe et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CANCER

Mapping biomedical concepts onto the human genome by mining literature on chromosomal aberrations

S VAN VOORENB THIENPONTBjörn MentenFranki SpelemanB DE MOORJ VERMEESCHY MOREAU

A1 Journal Article in NUCLEIC ACIDS RESEARCH

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

Björn MentenKaren BuysseF ZAHIRJan HellemansSJ HAMILTONT COSTAC FAGERSTROMG ANADIOTISD KINGSBURYBC MCGILLIVRAY et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

RANBP17-TLX3: A hot spot region for both constitutional and acquired rearrangements

Karen BuysseBjörn MentenF ANTONACCIJA VELTMANLA LARSENZ TUMERGeert MortierFranki Speleman

Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12

Björn MentenKaren BuysseStefan VermeulenVALERIE MEERSSCHAUTJo VandesompeleBL NGNP CARTERGeert MortierFranki Speleman

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Subtelomeric imbalances in phenotypically normal individuals

I BALIKOVABjörn MentenT DE RAVELC LE CAIGNECB THIENPONTM URBINAM DOCO-FENZYM DE RADEMAEKERGeert MortierF KOOY et al.

A1 Journal Article in HUMAN MUTATION

2006

Array CGH: een nieuwe revolutionaire techniek in de detectie van chromosomale defecten

Björn MentenKaren BuysseGeert MortierFranki Speleman

A4 Journal Article in DE AGENDA PEDIATRIE (BRUSSEL)

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Björn MentenN MAASB THIENPONTKaren BuysseJo VandesompeleC MELOTTET DE RAVELS VAN VOORENI BALIKOVAL BACKX et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Genome wide measurement of DNA copy number changes in neuroblastoma: dissecting amplicons and mapping losses, gains and breakpoints

Evi MichelsJo VandesompeleJasmien HoebeeckBjörn MentenKatleen De PreterGenevieve LaureysNadine Van RoyFranki Speleman

A1 Journal Article in CYTOGENETIC AND GENOME RESEARCH

Translocation-excision-deletion-amplification mechanism leading to nonsyntenic coamplification of MYC and ATBF1

Nadine Van RoyJo VandesompeleBjörn MentenH NILSSONEls De SmetM ROCCHIAnne De PaepeS PAHLMANFranki Speleman

A1 Journal Article in GENES CHROMOSOMES & CANCER

2005

Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome

Stefan VermeulenFranki SpelemanL VANRANSBEECKJasmine VerspeetBjörn MentenMR VERSCHRAEGEN-SPAEPhilippe De WildeLudwine MessiaenRC MICHAELISJuliaan Leroy

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type

Björn MentenKaren BuysseJo VandesompeleEls De SmetAnne De PaepeFranki SpelemanGeert Mortier

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Molecular karyotyping: Array CGH quality criteria for constitutional genetic diagnosis

JR VERMEESCHC MELOTTEG FROYENS VAN VOORENB DUTTAN MAASS VERMEULENBjörn MentenFranki SpelemanB DE MOOR et al.

A1 Journal Article in JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Positional and functional mapping of a neuroblastoma differentiation gene on chromosome 11

Katleen De PreterJo VandesompeleBjörn MentenPhilippa CarrHeike FieglerAnders EdsjöNigel P CarterNurten YigitWim WaelputNadine Van Roy et al.

A1 Journal Article in BMC GENOMICS

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

Björn MentenFilip PattynKatleen De PreterPiet RobbrechtEvi MichelsKaren BuysseGeert MortierAnne De PaepeSteven van VoorenJoris Vermeesch et al.

A1 Journal Article in BMC BIOINFORMATICS

2004

Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons

Katleen De PreterFilip PattynGeert BerxKristin StrumaneBjörn MentenFrans Van RoyAnne De PaepeFranki SpelemanJo Vandesompele

A1 Journal Article in BMC GENOMICS

DUP25 remains unconfirmed

Stefan VermeulenBjörn MentenSylvia De BiePaul CouckeFransiska MalfaitJulie De BackerFranki SpelemanAnne De PaepeB LOEYS

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Jan HellemansO PREOBRAZHENSKAAndy WillaertP DEBEERPETER VERDONKT COSTAK JANSSENSBjörn MentenNadine Van RoyStefan Vermeulen et al.

A1 Journal Article in NATURE GENETICS

Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints

Stefan VermeulenBjörn MentenNadine Van RoyHeidi Van LimbergenAnne De PaepeGeert MortierFranki Speleman

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A