Research Explorer

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Researcher

Machteld Baetens

15 Results

2022

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

Eva D'haeneMachteld BaetensEllen RoetsJo Van DorpeSarah Vergult

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

Machteld BaetensBjörn MentenIsabelle DehaeneElizaveta Padalko

A1 Journal Article in JOURNAL OF OBSTETRICS AND GYNAECOLOGY

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 LiermanIlse De CrooStefanie De GheselleJustine DefreyneMachteld BaetensAnnelies DheedeneRoos ColmanBjörn MentenGuy T'SjoenPetra De SutterKelly Tilleman

A1 Journal Article in FERTILITY AND STERILITY

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Machteld BaetensAnnelies DheedeneSandra JanssensBjörn Menten

A1 Journal Article in GENETICS IN MEDICINE

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

Machteld BaetensAnnelies DheedeneSandra Janssens

A1 Journal Article in OBSTETRICS AND GYNECOLOGY

2019

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

Sarah VergultMachteld BaetensFrauke CoppietersAnnelies DheedeneToon RosseelTom SanteBjörn Menten

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

Machteld BaetensTom SanteSarah VergultOlivier 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 CoppietersJo VandesompeleAnnelies De JaegherElfride De BaerePaul CouckeKathleen Claes

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 CampensPaul CouckeBart LoeysAnne De PaepeJulie De Backer

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 RenardBjörn MentenWim Van CriekingeJulie De BackerAnne De PaepeBart LoeysPaul Coucke

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 BekaertFilip PattynBram De WildePaul CouckeJo VandesompeleKathleen ClaesJan Hellemans

A1 Journal Article in PLOS ONE