Research Explorer

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Researcher

Machteld Baetens

Publications & Research Data

Awards & Distinctions

29 Results

2025

Heterochronic HOXD13 activation due to 2q31.1 microdeletion results in isolated forearm mesomelic dysplasia

Eva D'haeneRaquel RoucoMarlies ColmanMachteld BaetensLies VantommeOlivier VanakkerBert CallewaertFransiska MalfaitGuillaume AndreyDelfien Syx et al.

2024

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

Andrea WildermanEva D'haeneMachteld BaetensTara N. YankeeEmma Wentworth WinchesterNicole GliddenEllen RoetsJo Van DorpeSandra JanssensDanny E. Miller et al.

A1 Journal Article in NATURE COMMUNICATIONS

Advancing diagnosis and early risk assessment of preeclampsia through noninvasive cell-free DNA methylation profiling

Machteld BaetensBram Van GaeverStephanie DeblaereAndries De KokerLeander MeurisNico CallewaertSandra JanssensKristien RoelensEllen RoetsJo Van Dorpe et al.

A1 Journal Article in CLINICAL EPIGENETICS

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

Diagnostic efficiency of clinical exome sequencing in fetuses with congenital anomalies

Candy KumpsMachteld BaetensSofie SymoensEllen RoetsNOORTJE VAN OOSTRUMOlivier VanakkerBert CallewaertBjörn MentenSandra Janssens

Mapping the prevalence and origin of (mosaic) chromosomal abnormalities in human blastocysts: findings and potential value for PGT

Machteld BaetensLisa De WitteKelly TillemanFrauke Vanden MeerschautSandra JanssensAriane Van TongerlooVirginie SzymczakDominic StoopAnnelies DheedeneSofie Symoens et al.

Non-invasive cell-free DNA methylation profiling of pregnant women for the diagnosis and early risk determination of preeclampsia

Machteld BaetensBram Van GaeverStephanie DeblaereAndries De KokerNico CallewaertKristien RoelensEllen RoetsIsabelle DehaeneBjörn Menten

Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles

Ilse ParijsNathalie BrisonLeen VancoillieMachteld BaetensBettina BlaumeiserSebastien BoulangerJulie DesirBoyan DimitrovNathalie FieremansKatrien Janssens et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

A1 Journal Article in HUMAN REPRODUCTION OPEN

2023

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

Preimplantation genetic testing in Belgium : recommendations for the genetic centres

E Fernandez GallardoM De RyckeV BerckmoesP VerdyckE DimitriadouO TsuikoE DenayerMachteld BaetensSandra JanssensSofie Symoens et al.

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

Andrea WildermanEva D'haeneMachteld BaetensTara N. YankeeEmma Wentworth WinchesterNicole GliddenEllen RoetsJo Van DorpeSarah VergultTimothy C. Cox et al.

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

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

2021

Isolated forearm mesomelic dysplasia caused by a genomic deletion encompassing the 2q31.1 HOXD gene cluster

Marlies ColmanMachteld BaetensOlivier VanakkerBert CallewaertDelfien SyxFransiska Malfait

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

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

The developmental capacity of in vitro matured oocytes originating from cumulus oocyte complexes (COCs) found during ovarian tissues (OT) preparation is compromised

Kelly TillemanSylvie LiermanAnnelies TolpeIlse De CrooS. De GhesellesJustine DefreyneGuy T'SjoenMachteld BaetensAnnelies DheedeneBjörn Menten et al.

2019

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

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

2015

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

Kim De LeeneerJan HellemansWouter SteyaertSteve LefeverInge VereeckeEveline DebalsBrecht CrombezMachteld BaetensMattias Van HeetveldeFrauke Coppieters et al.

A1 Journal Article in HUMAN MUTATION

2014

Mutation detection rate and - characteristics in thoracic aortic aneurysm (TAA) related disorders: results from next generation sequencing (NGS) panel testing

Laurence CampensLaura Muiño MosqueraBert CallewaertMarjolijn RenardMachteld BaetensAnne De PaepePaul CouckeJulie De Backer

2013

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

Marjolijn RenardBert CallewaertMachteld BaetensLaurence CampensKay MacDermotJean-Pierre FrynsMarise BonduelleHarry C DietzIsabel Mendes GasparDiogo Cavaco et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CARDIOLOGY

2011

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

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations

Kim De LeeneerJan HellemansJoachim De SchrijverMachteld BaetensBruce PoppeWim Van CriekingeAnne De PaepePaul CouckeKathleen Claes

A1 Journal Article in HUMAN MUTATION

Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics

Kim De LeeneerJoachim De SchrijverLieven ClementMachteld BaetensSteve LefeverSarah De KeulenaerWim Van CriekingeDieter DeforceFilip Van NieuwerburghSofie Bekaert et al.

A1 Journal Article in PLOS ONE