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M. Joosten · SciRah

Researcher profile · Semantic Scholar

M. Joosten

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M. Joosten — researcher profile on SciRah

h-index: 25
Works: 84
Citations: 1,662

Most-cited papers

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow
M. Srebniak, M. Boter, G. Oudesluijs, M. Joosten +3 more
2011European Journal of Human Genetics103 citations Open access
Semantic Scholar
Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta‐analysis
M. Srebniak, M. Joosten, M. Knapen, Lidia R. Arends +4 more
2017Ultrasound in Obstetrics and Gynecology102 citations Open access
Semantic Scholar
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study
L. van Prooyen Schuurman, E. Sistermans, D. Van Opstal, L. Henneman +30 more
2022American Journal of Human Genetics99 citations Open access
Semantic Scholar
Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs
M. Srebniak, K. Diderich, M. Joosten, L. Govaerts +9 more
2015European Journal of Human Genetics92 citations Open access
Semantic Scholar
Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities
M. Srebniak, M. Boter, Grétel Oudesluijs, T. Cohen-Overbeek +8 more
2012Molecular Cytogenetics72 citations Open access
Semantic Scholar
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era
K. Stuurman, M. Joosten, I. van der Burgt, M. Elting +3 more
2019Journal of Medical Genetics65 citations Open access
Semantic Scholar
False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review
D. Van Opstal, M. Srebniak, Joke Polak, F. D. de Vries +7 more
2016PLoS ONE54 citations Open access
Semantic Scholar
Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies
D. Van Opstal, F. D. de Vries, L. Govaerts, M. Boter +6 more
2015Human Mutation54 citations Open access
Semantic Scholar
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Y. Murakami, T. Nguyen, N. Baratang, P. K. Raju +41 more
2019American Journal of Human Genetics51 citations Open access
Semantic Scholar
Erythroid defects and increased retrovirally-induced tumor formation in Evi1 transgenic mice
D. Louz, M. van den Broek, Sandra E. Verbakel, Yolanda Vankan +5 more
2000Leukemia50 citations Open access
Semantic Scholar
Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing
S. L. van der Steen, K. Diderich, S. Riedijk, J. Verhagen-Visser +7 more
2015Clinical Genetics49 citations
Semantic Scholar
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Jordy Dekker, R. Schot, M. Bongaerts, W. D. de Valk +25 more
2023American Journal of Human Genetics47 citations Open access
Semantic Scholar
Large-scale identification of novel potential disease loci in mouse leukemia applying an improved strategy for cloning common virus integration sites
M. Joosten, Yolanda Vankan-Berkhoudt, Marjolein Tas, M. Lunghi +6 more
2002Oncogene47 citations
Semantic Scholar
The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences
S. L. van der Steen, S. Riedijk, J. Verhagen-Visser, L. C. P. Govaerts +7 more
2016Journal of Genetic Counseling44 citations Open access
Semantic Scholar
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
K. Diderich, Kathleen Romijn, M. Joosten, L. Govaerts +15 more
2020Acta Obstetricia et Gynecologica Scandinavica42 citations Open access
Semantic Scholar
Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT
M. Srebniak, M. D. de Wit, K. Diderich, L. Govaerts +8 more
2016Molecular Cytogenetics37 citations Open access
Semantic Scholar
Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification
M. Srebniak, K. Diderich, L. Govaerts, M. Joosten +3 more
2013European Journal of Human Genetics37 citations Open access
Semantic Scholar
Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast
D. Van Opstal, G. M. Eggenhuizen, M. Joosten, K. Diderich +14 more
2020Prenatal Diagnosis34 citations Open access
Semantic Scholar
Retroviral Insertions in Evi12, a Novel Common Virus Integration Site Upstream of Tra1/Grp94, Frequently Coincide with Insertions in the Gene Encoding the Peripheral Cannabinoid Receptor Cnr2
P. Valk, Yolanda Vankan, M. Joosten, N. Jenkins +3 more
1999Journal of Virology33 citations Open access
Semantic Scholar
The influence of SNP‐based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies
M. Srebniak, M. Knapen, Marike G. Polak, M. Joosten +15 more
2017Human Mutation32 citations Open access
Semantic Scholar
Leukemic predisposition of pSca-1/Cb2 transgenic mice.
M. Joosten, P. Valk, M. A. Jordà, Yolanda Vankan-Berkhoudt +5 more
2002Experimental Hematology32 citations Open access
Semantic Scholar
Translational Control of Putative Protooncogene Nm23-M2 by Cytokines via Phosphoinositide 3-Kinase Signaling*
M. Joosten, Montserrat Blázquez-Domingo, Fokke A. Lindeboom, F. Boulmé +7 more
2004Journal of Biological Chemistry29 citations Open access
Semantic Scholar
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.
K. Diderich, J. E. Klapwijk, V. van der Schoot, M. van den Born +7 more
2023European Journal of Medical Genetics26 citations Open access
Semantic Scholar
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study
L. van Prooyen Schuurman, E. Sistermans, D. Van Opstal, L. Henneman +30 more
2022American Journal of Human Genetics26 citations Open access
Semantic Scholar
Whole‐genome array as a first‐line cytogenetic test in prenatal diagnosis
M. Srebniak, D. Van Opstal, M. Joosten, K. Diderich +6 more
2015Ultrasound in Obstetrics and Gynecology26 citations Open access
Semantic Scholar
The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study
G. M. Eggenhuizen, Attie Go, Zoë Sauter, M. Hoffer +7 more
2024Prenatal Diagnosis24 citations Open access
Semantic Scholar
The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing
S. Riedijk, K. Diderich, S. L. van der Steen, L. Govaerts +6 more
2014Journal of Clinical Medicine24 citations Open access
Semantic Scholar
Prenatal and postnatal findings in small‐for‐gestational‐age fetuses without structural ultrasound anomalies at 18–24 weeks
M. D. de Wit, M. Srebniak, M. Joosten, L. Govaerts +10 more
2017Ultrasound in Obstetrics and Gynecology23 citations Open access
Semantic Scholar
A rapid RT-PCR based method to isolate complementary DNA fragments flanking retrovirus integration sites.
Peter J. M. Valk, M. Joosten, Yolanda Vankan, B. Lowenberg +1 more
1997Nucleic Acids Research22 citations Open access
Semantic Scholar
Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?
S. L. van der Steen, E. M. Bunnik, Marike G. Polak, K. Diderich +10 more
2017Journal of Genetic Counseling20 citations Open access
Semantic Scholar
Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?
K. Diderich, M. Joosten, L. Govaerts, D. Van Opstal +5 more
2019Prenatal Diagnosis17 citations Open access
Semantic Scholar
Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype
D. Van Opstal, S. van Veen, M. Joosten, K. Diderich +9 more
2019Prenatal Diagnosis16 citations Open access
Semantic Scholar
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
D. Van Opstal, K. Diderich, M. Joosten, L. Govaerts +14 more
2018Prenatal Diagnosis16 citations Open access
Semantic Scholar
Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders – genetic counseling and pregnancy outcome in 57 cases
Alessandro Ghidini, Diana W. Bianchi, L. Govaerts, M. Srebniak +14 more
2017Prenatal Diagnosis15 citations Open access
Semantic Scholar
The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies
K. Diderich, H. Bruggenwirth, M. Joosten, F. Thurik +19 more
2024Prenatal Diagnosis14 citations Open access
Semantic Scholar
Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
E. van den Bogaard, M. van Geel, I. van Vlijmen-Willems, P. Jansen +8 more
2018Genetics in Medicine14 citations Open access
Semantic Scholar
Phenotyping of Evi1, Evi11/Cb2, and Evi12 transformed leukemias isolated from a novel panel of cas-Br-M murine leukemia virus-infected mice.
M. Joosten, P. Valk, Yolanda Vankan, N. D. de Both +2 more
2000Virology14 citations Open access
Semantic Scholar
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
P. J. van der Sluijs, M. Joosten, C. Alby, T. Attié-Bitach +51 more
2022Genetics in Medicine13 citations Open access
Semantic Scholar
Effect of Video Discharge Instructions for Patients With Mild Traumatic Brain Injury in the Emergency Department: A Randomized Controlled Trial.
A. Hoek, M. Joosten, D. Dippel, E. F. van Beeck +9 more
2021Annals of Emergency Medicine13 citations Open access
Semantic Scholar
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis
Sina Ghasempour, N. Warner, Rei Guan, Marco M. Rodari +37 more
2024Journal of Experimental Medicine12 citations Open access
Semantic Scholar
Social and medical need for whole genome high resolution NIPT
M. Srebniak, M. Knapen, L. Govaerts, Marike G. Polak +9 more
2019Molecular Genetics & Genomic Medicine12 citations Open access
Semantic Scholar
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
P. J. van der Sluijs, M. Joosten, C. Alby, T. Attié-Bitach +51 more
2023Genetics in Medicine11 citations Open access
Semantic Scholar
Chorionic villous vascularization related to phenotype and genotype in first trimester miscarriages in a recurrent pregnancy loss cohort.
A. Reus, M. Stephenson, F. V. van Dunné, R. D. de Krijger +3 more
2013Human Reproduction10 citations Open access
Semantic Scholar
Confined placental mosaicism: Distribution of chromosomally abnormal cells over the term placenta.
G. M. Eggenhuizen, S. van Veen, N. van Koetsveld, A. Go +5 more
2024Placenta8 citations Open access
Semantic Scholar
Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes
Elise J. Huisman, A. R. Brooimans, Sam Mayer, M. Joosten +9 more
2022Journal of Clinical Immunology7 citations Open access
Semantic Scholar
Clinical experience of unexpected findings in prenatal array testing.
M. Joosten, K. Diderich, D. Van Opstal, L. Govaerts +6 more
2016Biomarkers in Medicine7 citations
Semantic Scholar
The group medical appointment (GMA) in haemophilia and von Willebrand’s disease: a new development in outpatient paediatric care
J. Lock, A. D. de Bruin, M. Scholten, M. Joosten +4 more
2012Haemophilia7 citations
Semantic Scholar
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
K. Diderich, J. E. Klapwijk, V. van der Schoot, H. Brüggenwirth +2 more
2023The Application of Clinical Genetics6 citations Open access
Semantic Scholar
Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?
M. Srebniak, L. Govaerts, K. Diderich, M. Joosten +3 more
2015Genetics in Medicine6 citations Open access
Semantic Scholar
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia
Jean Jacobs, Hristiana Lyubenova, Sven Potelle, Johannes Kopp +20 more
2025Nature5 citations Open access
Semantic Scholar

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