Research Explorer

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Researcher

Annelies Dheedene

Publications & Research Data

Awards & Distinctions

96 Results

2025

Case report : recurrent catatonia in a patient with 17p13.3 microduplication syndrome

Ilya QuerterNika SchuermansNele Van de VeldeCisse GeleynAnnelies DheedeneKurt AudenaertChris BaekenBert CallewaertGilbert Lemmens

A1 Journal Article in FRONTIERS IN PSYCHIATRY

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

Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A]; [806_810del] variants in the RDH12 gene

Manon BouckaertFilip Van Den BroeckM. GhazviniAlfredo Dueñas ReyHanne LenaertsAnnelies DheedeneKathleen ClaesElfride De BaereBart LeroyJulie De Zaeytijd et al.

A1 Journal Article in STEM CELL RESEARCH

Genetic basis of hypsarrhythmia : expanding the PHACTR1 spectrum and pathway to targeted therapy

Karen WillièmeAnnelies DheedeneArnaud VanlanderPATRICK VERLOOHelene Verhelst

A1 Journal Article in CLINICAL GENETICS

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

Mind the gap : long-read sequencing as a diagnostic tool for deciphering intellectual disability

Griet De ClercqBjörn MentenAnnelies Dheedene

Neonatal cholestasis progressing to a multisystem syndrome with liver cirrhosis in two siblings with FARSA deficiency : an evolving hepatological phenotype

Yoni AelvoetPATRICK VERLOOArnaud VanlanderSaskia Vande VeldeStephanie Van BiervlietPauline De BruyneLevi HosteAnnelies DheedeneLore PottieAnne Hoorens et al.

A2 Journal Article in JIMD REPORTS

Non-coding structural variants disrupt a critical regulatory region steering FOXG1 transcription during early neurodevelopment

Eva D'haeneLisa HamerlinckNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaSebastian LeimbacherLara ColomboLies VantommeEsperanza DaalAnnelies Dheedene et al.

Non-coding structural variants disrupt regulatory elements steering FOXG1 transcription in early neurodevelopment

Lisa HamerlinckEva D'haeneNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaLara ColomboSebastian LeimbacherEsperanza DaalLies VantommeAnnelies Dheedene et al.

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.

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

Eva D'haeneLisa HamerlinckNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaSebastian LeimbacherLara ColomboLies VantommeEsperanza DaalAnnelies Dheedene et al.

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 BacaLara ColomboSebastian LeimbacherEsperanza DaalLies VantommeAnnelies Dheedene et al.

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaLara ColomboSebastian LeimbacherEsperanza DaalLies VantommeAnnelies Dheedene et al.

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaLara ColomboSebastian LeimbacherLies VantommeAnnelies DheedeneBjörn Menten et al.

2024

Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction : uncovering incomplete concordance

Lisa De WitteMachteld BaetensKelly TillemanFrauke Vanden MeerschautSandra JanssensAriane Van TongerlooVirginie SzymczakDominic StoopAnnelies DheedeneSofie Symoens et al.

A1 Journal Article in HUMAN REPRODUCTION OPEN

Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis

Hannes SyrynJulie Van De VeldeGriet De ClercqHannah VerdinAnnelies DheedeneFrank PeelmanAndrew SinclairKatie L AyersRoss A D BathgateMartine Cools et al.

A1 Journal Article in HUMAN REPRODUCTION

Clinical impact of RNA-sequencing in diagnostics

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

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

Marine TessarechGaëlle FriocourtFlorent MarguetMaryline LecointreMorgane Le MaoRodrigo Muñoz DíazCyril MignotBoris KerenBénédicte HéronCharlotte De Bie et al.

A1 Journal Article in GENETICS IN MEDICINE

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

Griet De ClercqLies VantommeBarbara DewaeleBert CallewaertOlivier VanakkerSandra JanssensBart LoeysMojca StrazisarWouter De CosterJoris Robert Vermeesch et al.

A1 Journal Article in SCIENTIFIC REPORTS

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 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 LoonMichael B VaughanMaria del Rocio Pérez BacaLara ColomboSebastian LeimbacherEsperanza DaalLies VantommeBjörn Menten et al.

2023

BeSolveRD : the Belgian genome resource to resolve rare diseases

Mathilde GeysensWouter BossuytElfride De BaereKim De LeeneerKoenraad DevriendtAnnelies DheedeneAime LumakaJeroen LuytenGert MatthijsBjörn Menten et al.

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

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.

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

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

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

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

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

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

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

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

Further delineation of BCAP31-linked intellectual disability : description of 17 new families with LoF and missense variants

S WhalenM ShawC MignotD HéronSC BastaraudCC WaltiJ LiebeltF ElmslieP YapJ Hurst et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

Dong LiMichael E. MarchPaola FortugnoLiza L. CoxLeticia S. MatsuokaRosanna MonettaChristoph SeilerLouise C. PyleEmma C. BedoukianMaría José Sánchez-Soler et al.

A1 Journal Article in HUMAN GENETICS

Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations

Margot van RielNathalie BrisonMachteld BaetensBettina BlaumeiserFrancois BoemerLaura BourlardSaskia BulkAnne De LeenerJulie DesirKoenraad Devriendt et al.

A1 Journal Article in OBSTETRICS AND GYNECOLOGY

2020

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

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

2019

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

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

Björn MentenMaarten De SmetLennart RamanTom SanteNadine Van RoyAnnelies Dheedene

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

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

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

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

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

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

Human in vitro post-implantation culture models reveal the depletion of aneuploid cells in chromosomally mosaic embryos 12 days post fertilisation

Mina PopovicAnnelies DheedeneLien DhaenensJoachim TaelmanPetra De SutterSusana Marina Chuva de Sousa LopesBjörn MentenBjörn Heindryckx

LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

Przemyslaw SzafranskiEwelina KośmiderQian LiuJustyna A KarolakLauren CurrieSandhya ParkashStephen G KahlerElizabeth RoederRebecca O LittlejohnThomas S DeNapoli et al.

A1 Journal Article in HUMAN MUTATION

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

2017

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

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

Innovations in cytogenomic technologies for prenatal diagnosis

Annelies DheedeneBjörn MentenSarah Vergult

NR4A2 causes an autism spectrum disorder

Helene VerhelstPatrick VerlooAnnelies DheedeneBert CallewaertBjörn Menten

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

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

2016

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

FOXP1-related intellectual disability syndrome : a recognizable entity

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

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

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

2015

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

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

M HuckertC StoetzelS MorkmuedV Laugel-HaushalterV GeoffroyJ MullerF ClaussMK PrasadF ObryJL Raymond et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

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

Role of CGH array in the diagnosis of autosomal recessive disease : a case of Ellis-van Creveld syndrome

Valentina D'AmbrosioCarmela VotinoTeresa CosSebastien BoulangerAnnelies DheedeneJacques JaniKathelijn Keymolen

A1 Journal Article in PRENATAL DIAGNOSIS

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

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

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

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

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

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

Sofie SymoensFransiska MalfaitSanne D'hondtBert CallewaertAnnelies DheedeneWouter SteyaertHans Peter BächingerAnne De PaepeHulya KayseriliPaul Coucke

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment

Isabelle SchrauwenSarah HelfmannAkira InagakiFriederike PredoehlMohammad Amin TabatabaiefarMaria Magdalena PicherManou SommenCelia Zazo SecoJaap OostrikHannie Kremer et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2009

Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia

Jan HellemansMarleen SimonAnnelies DheedeneYasemin AlanayErcan MihciLaila RifaiAbdelaziz SefianiYolande van BeverMorteza MeradjiAndrea Superti-Furga et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

The heterozygous Lemd3+/GT mouse is not a murine model for osteopoikilosis in humans

Annelies DheedeneSteven DeleyeJan HellemansSteven StaelensStefaan VandenbergheGeert Mortier

A1 Journal Article in CALCIFIED TISSUE INTERNATIONAL

2008

The heterozygous Lemd3 knock-out mouse: a murine model for osteopoikilosis in humans?

Annelies DheedeneSteven DeleyeJan HellemansSteven StaelensStefaan VandenbergheGeert Mortier