Marieke Joosten

The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.

Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.

How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.

Assessed papers (1)

• Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
  2023 L1 85/100

1 assessed by us (1 reproduced) · 94 not yet assessed — every PubMed paper on record, linked below.

• TfR1 deficiency beyond combined immunodeficiency. Pivotal role of mitochondrial function and iron-sulfur cluster biogenesis in disease pathogenesis. ↗

  Genes & Diseases · 2026
  not yet assessed
• Impact of Maternal Body Mass Index (BMI) on the Performance of Non‐Invasive Prenatal Testing (NIPT) ↗

  Prenatal Diagnosis · 2026 · PMID 42017462
  not yet assessed
• A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia ↗

  Nature · 2025 · PMID 40836090
  not yet assessed
• Studies of post-partum placentas provide insights into the origin of structural chromosomal aberrations ↗

  Human Reproduction · 2025 · PMID 41338242
  not yet assessed
• Chorionic Villus Sampling for Rapid Confirmation of High‐Risk NIPT Results for Trisomy 21, 18, and 13 ↗

  Prenatal Diagnosis · 2025 · PMID 40528522
  not yet assessed
• Implementation and outcome of personalized treatment strategies in advanced genitourinary cancers ↗

  ESMO Open · 2025 · PMID 40602108
  not yet assessed
• Residual Risks of Fetal Chromosome Aberrations When Cell‐Free DNA Prenatal Screening Is Normal: A Retrospective Study ↗

  Prenatal Diagnosis · 2025 · PMID 40992929
  not yet assessed
• P-495 Effectiveness and feasibility of integrating genome-wide non-invasive prenatal testing (GW-NIPT) into standard care for recurrent pregnancy loss: A systematic review and SWOT analysis ↗

  Human Reproduction · 2025
  not yet assessed
• Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome ↗

  European Journal Of Haematology · 2025 · PMID 40693691
  not yet assessed
• The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study ↗

  Prenatal Diagnosis · 2024 · PMID 38342960
  not yet assessed
• Confined placental mosaicism: Distribution of chromosomally abnormal cells over the term placenta ↗

  Placenta · 2024 · PMID 38901306
  not yet assessed
• Human <i>ITGAV</i> variants are associated with immune dysregulation, brain abnormalities, and colitis ↗

  The Journal of Experimental Medicine · 2024 · PMID 39526957
  not yet assessed
• The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies ↗

  Prenatal Diagnosis · 2024 · PMID 39349395
  not yet assessed
• Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders ↗

  The American Journal of Human Genetics · 2023 · PMID 36669495
  not yet assessed
• The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis ↗

  European Journal of Medical Genetics · 2023 · PMID 37709011
  not yet assessed
• Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing ↗

  The Application of Clinical Genetics · 2023 · PMID 37216148
  not yet assessed
• Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non‐invasive prenatal testing results ↗

  Prenatal Diagnosis · 2023 · PMID 38141050
  not yet assessed
• Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort ↗

  Genetics in Medicine · 2023 · PMID 36745127
  not yet assessed
• What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping? ↗

  Molecular Cytogenetics · 2023 · PMID 37775759
  not yet assessed
• Response to the comment on Diderich et al. “The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis” (EJMG 66(10),104844) ↗

  European Journal of Medical Genetics · 2023 · PMID 37972850
  not yet assessed
• Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study ↗

  The American Journal of Human Genetics · 2022 · PMID 35659929
  not yet assessed
• Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort ↗

  Genetics in Medicine · 2022 · PMID 35579625
  not yet assessed
• Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study ↗

  The American Journal of Human Genetics · 2022 · PMID 35803237
  not yet assessed
• Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

  Journal of the American Society of Nephrology · 2022 · PMID 36414417
  L1 85/100
• Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes ↗

  Journal of Clinical Immunology · 2022 · PMID 35763218
  not yet assessed
• RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants ↗

  medRxiv · 2022
  not yet assessed
• Effect of Video Discharge Instructions for Patients With Mild Traumatic Brain Injury in the Emergency Department: A Randomized Controlled Trial ↗

  Annals of Emergency Medicine · 2021 · PMID 33618811
  not yet assessed
• Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan ↗

  Molecular Cytogenetics · 2021 · PMID 33422094
  not yet assessed
• Noninvasive Prenatal Testing as Compared to Chorionic Villus Sampling Is More Sensitive for the Detection of Confined Placental Mosaicism Involving the Cytotrophoblast ↗

  Obstetrical & Gynecological Survey · 2021
  not yet assessed
• The Effect of Written and Video Discharge Instructions After Mild Traumatic Brain Injury on Healthcare Costs and Productivity Costs ↗

  Journal of Head Trauma Rehabilitation · 2021 · PMID 34320553
  not yet assessed
• Non‐invasive prenatal diagnosis for translocation carriers—YES please or NO go? ↗

  Acta Obstetricia Et Gynecologica Scandinavica · 2021 · PMID 34472080
  not yet assessed
• [Genome-wide diagnostics; after the results the real work begins]. ↗

  PubMed · 2021 · PMID 33560600
  not yet assessed
• Patients with Chromosome 11q-abberations are Characterized by a Combined Primary Immunodeficiency Involving Both B- and T-lymphocytes ↗

  Research Square · 2021
  not yet assessed
• Whole-exome sequencing: A changing landscape of prenatal counseling ↗

  Elsevier eBooks · 2021
  not yet assessed
• List of contributors ↗

  Elsevier eBooks · 2021
  not yet assessed
• The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies ↗

  Acta Obstetricia Et Gynecologica Scandinavica · 2020 · PMID 33249554
  not yet assessed
• Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast ↗

  Prenatal Diagnosis · 2020 · PMID 32533714
  not yet assessed
• Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era ↗

  Journal of Medical Genetics · 2019 · PMID 31040167
  not yet assessed
• Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases ↗

  The American Journal of Human Genetics · 2019 · PMID 31256876
  not yet assessed
• Social and medical need for whole genome high resolution NIPT ↗

  Molecular Genetics & Genomic Medicine · 2019 · PMID 31790156
  not yet assessed
• Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype? ↗

  Prenatal Diagnosis · 2019 · PMID 31506969
  not yet assessed
• Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype ↗

  Prenatal Diagnosis · 2019 · PMID 31321790
  not yet assessed
• 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin ↗

  Journal of Investigative Dermatology · 2019
  not yet assessed
• Prevalence of submicroscopic chromosome aberrations in pregnancies without increased risk for structural chromosome aberrations - a systematic review of the literature

  European Journal of Human Genetics · 2019
  not yet assessed
• Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin ↗

  Genetics in Medicine · 2018 · PMID 30425301
  not yet assessed
• Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas? ↗

  Prenatal Diagnosis · 2018 · PMID 30187503
  not yet assessed
• Frequency of Submicroscopic Chromosomal Aberrations in Pregnancies Without Increased Risk for Structural Chromosomal Aberrations: Systematic Review and Meta-analysis ↗

  Obstetrical & Gynecological Survey · 2018
  not yet assessed
• Prenatal diagnosis of cervical ribs by three-dimensional ultrasound in a foetus with a herniated Dandy-Walker cyst ↗

  BMJ Case Reports · 2018 · PMID 30567892
  not yet assessed
• Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta‐analysis ↗

  Ultrasound in Obstetrics and Gynecology · 2017 · PMID 28556491
  not yet assessed
• The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies ↗

  Human Mutation · 2017 · PMID 28409863
  not yet assessed
• Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude? ↗

  Journal of Genetic Counseling · 2017 · PMID 28674770
  not yet assessed
• P16.04: Prevalence of submicroscopic chromosome aberrations in pregnancies without increased risk for structural chromosome aberrations: a systematic review of the literature ↗

  Ultrasound in Obstetrics and Gynecology · 2017
  not yet assessed
• INTERGENERATIONAL ELDER ABUSE: WHY IT IS SO HARD TO ASK FOR HELP ↗

  Innovation in Aging · 2017
  not yet assessed
• P16.05: The influence of chromosomal microarray and NIPT on the diagnostic yield in 6,811 high‐risk pregnancies without ultrasound anomalies ↗

  Ultrasound in Obstetrics and Gynecology · 2017
  not yet assessed
• EP06.03: Be aware of a diagnostic delay: Rotterdam's experience with NIPT in 1071 high‐risk pregnancies ↗

  Ultrasound in Obstetrics and Gynecology · 2017
  not yet assessed
• False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review ↗

  PLoS ONE · 2016 · PMID 26771677
  not yet assessed
• The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences ↗

  Journal of Genetic Counseling · 2016 · PMID 27220741
  not yet assessed
• Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT ↗

  Molecular Cytogenetics · 2016 · PMID 27610202
  not yet assessed
• Prenatal and postnatal findings in small‐for‐gestational‐age fetuses without structural ultrasound anomalies at 18–24 weeks ↗

  Ultrasound in Obstetrics and Gynecology · 2016 · PMID 27102944
  not yet assessed
• Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders – genetic counseling and pregnancy outcome in 57 cases ↗

  Prenatal Diagnosis · 2016 · PMID 27931090
  not yet assessed
• Clinical Experience of Unexpected Findings in Prenatal Array Testing ↗

  Biomarkers in Medicine · 2016 · PMID 27414702
  not yet assessed
• Pitfalls in the diagnosis of hemophilia severity: What to do? ↗

  Pediatric Blood & Cancer · 2016 · PMID 27734582
  not yet assessed
• EP21.21: Fetal anemia caused by the Guadalajara variant of <scp>G6PD</scp> deficiency ↗

  Ultrasound in Obstetrics and Gynecology · 2016
  not yet assessed
• Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs ↗

  European Journal of Human Genetics · 2015 · PMID 26328504
  not yet assessed
• Fetal anemia caused by the Guadalajara variant of G6PD deficiency ↗

  Prenatal Diagnosis · 2015 · PMID 26279483
  not yet assessed
• Value-Based Health Care (VBHC) in Sickle Cell Disease: A Dutch Initiative ↗

  Blood · 2015
  not yet assessed
• Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder? ↗

  Genetics in Medicine · 2015 · PMID 26158230
  not yet assessed
• Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies ↗

  Human Mutation · 2014 · PMID 25504762
  not yet assessed
• Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing ↗

  Clinical Genetics · 2014 · PMID 25134982
  not yet assessed
• The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing ↗

  Journal of Clinical Medicine · 2014 · PMID 26237473
  not yet assessed
• Open-Access Flexible Sigmoidoscopy Frequently Leads to Additional Colonoscopy in Symptomatic Patients over 50 years ↗

  Journal of Gastrointestinal and Liver Diseases · 2014 · PMID 24949607
  not yet assessed
• Whole‐genome array as a first‐line cytogenetic test in prenatal diagnosis ↗

  Ultrasound in Obstetrics and Gynecology · 2014 · PMID 25488734
  not yet assessed
• <scp>P</scp>13.04: Does genomic microarray add prognostic information in case of the second trimester small‐for‐gestational age, but structurally normal fetus? ↗

  Ultrasound in Obstetrics and Gynecology · 2014
  not yet assessed
• <scp>OP</scp>35.10: What do pregnant couples want? The preferences of pregnant couples at increased risk for Down's syndrome who are offered a choice in prenatal diagnosis between the clinical outcomes of 5 Mb and 0,5 Mb whole genome <scp>SNP</scp> array analysis ↗

  Ultrasound in Obstetrics and Gynecology · 2014
  not yet assessed
• Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification ↗

  European Journal of Human Genetics · 2013 · PMID 24193341
  not yet assessed
• Chorionic villous vascularization related to phenotype and genotype in first trimester miscarriages in a recurrent pregnancy loss cohort ↗

  Human Reproduction · 2013 · PMID 23427236
  not yet assessed
• Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities ↗

  Molecular Cytogenetics · 2012 · PMID 22413963
  not yet assessed
• The group medical appointment (GMA) in haemophilia and von Willebrand’s disease: a new development in outpatient paediatric care ↗

  Haemophilia · 2012 · PMID 22458923
  not yet assessed
• Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow ↗

  European Journal of Human Genetics · 2011 · PMID 21694736
  not yet assessed
• Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy ↗

  Netherlands Heart Journal · 2010 · PMID 20978592
  not yet assessed
• Hoe bruikbaar is de OSCE (stationstoets) in de toetsing van klinische diagnostische vaardigheden bij veterinaire bachelorstudenten

  Utrecht University Repository (Utrecht University) · 2010
  not yet assessed
• FOXC1/PITX2 Mutations and Copy Number Changes in a Belgian-Dutch Cohort of Patients With Axenfeld-Rieger Malformations

  Investigative Ophthalmology & Visual Science · 2007
  not yet assessed
• Deletion of FMR1 in Purkinje Cells Enhances Parallel Fiber LTD, Enlarges Spines, and Attenuates Cerebellar Eyelid Conditioning in Fragile X Syndrome ↗

  Neuron · 2005 · PMID 16055059
  not yet assessed
• Fragile X syndrome

  2005
  not yet assessed
• Translational Control of Putative Protooncogene Nm23-M2 by Cytokines via Phosphoinositide 3-Kinase Signaling ↗

  Journal of Biological Chemistry · 2004 · PMID 15247270
  not yet assessed
• Leukemic predisposition of pSca-1/Cb2 transgenic mice ↗

  Experimental Hematology · 2002 · PMID 11823049
  not yet assessed
• Large-scale identification of novel potential disease loci in mouse leukemia applying an improved strategy for cloning common virus integration sites ↗

  Oncogene · 2002 · PMID 12370816
  not yet assessed
• Novel transforming genes in murine myeloid leukemia

  Data Archiving and Networked Services (DANS) · 2002
  not yet assessed
• Erythroid defects and increased retrovirally-induced tumor formation in Evi1 transgenic mice ↗

  Leukemia · 2000 · PMID 11069022
  not yet assessed
• Phenotyping of Evi1, Evi11/Cb2, and Evi12 Transformed Leukemias Isolated from a Novel Panel of Cas-Br-M Murine Leukemia Virus-Infected Mice ↗

  Virology · 2000 · PMID 10704339
  not yet assessed
• The gene NM23-M2 Is frequently mutated in leukemia ↗

  Experimental Hematology · 2000
  not yet assessed
• Nm23-M2 is frequently mutated in leukemia A novel mechanism of disregulated expression

  2000
  not yet assessed
• Retroviral Insertions in<i>Evi12</i>, a Novel Common Virus Integration Site Upstream of<i>Tra1/Grp94</i>, Frequently Coincide with Insertions in the Gene Encoding the Peripheral Cannabinoid Receptor<i>Cnr2</i> ↗

  Journal of Virology · 1999 · PMID 10196250
  not yet assessed
• Nm23-M2 is a proto-oncogene involved in leukemia, and located in the novel common virus integration site Ev113

  1999
  not yet assessed
• A rapid RT-PCR based method to isolate complementary DNA fragments flanking retrovirus integration sites ↗

  Nucleic Acids Research · 1997 · PMID 9336478
  not yet assessed