Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

R. Galjaard · SciRah

Researcher profile · Semantic Scholar

R. Galjaard

Share profile

R. Galjaard — researcher profile on SciRah

h-index: 37
Works: 121
Citations: 5,333

Most-cited papers

TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
K. V. D. van der Meij, E. Sistermans, M. Macville, S. Stevens +36 more
2019American Journal of Human Genetics337 citations Open access
Semantic Scholar
Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature
M. D. de Wit, M. Srebniak, L. Govaerts, D. Van Opstal +2 more
2014Ultrasound in Obstetrics and Gynecology181 citations Open access
Semantic Scholar
X chromosome inactivation is initiated in human preimplantation embryos.
I. M. van den Berg, J. Laven, M. Stevens, Iris H. Jonkers +3 more
2009American Journal of Human Genetics165 citations Open access
Semantic Scholar
Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature
G. M. Eggenhuizen, A. Go, M. P. Koster, E. Baart +1 more
2021Human Reproduction Update118 citations Open access
Semantic Scholar
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
D. Van Opstal, M. V. van Maarle, K. Lichtenbelt, M. Weiss +22 more
2017Genetics in Medicine118 citations Open access
Semantic Scholar
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
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
Defective deacetylation of histone 4 K12 in human oocytes is associated with advanced maternal age and chromosome misalignment.
I. M. van den Berg, C. Eleveld, M. van der Hoeven, Erwin Birnie +4 more
2011Human Reproduction98 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
High-resolution identification of balanced and complex chromosomal rearrangements by 4C technology
M. Simonis, P. Klous, I. Homminga, R. Galjaard +4 more
2009Nature Methods90 citations
Semantic Scholar
Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples
D. Van Opstal, M. Boter, D. de Jong, C. van den Berg +4 more
2009European Journal of Human Genetics75 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
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 ONE55 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
Ethics of routine: a critical analysis of the concept of ‘routinisation’ in prenatal screening
A. Kater-Kuipers, I. D. de Beaufort, R. Galjaard, Eline M. Bunnik
2018Journal of Medical Ethics51 citations
Semantic Scholar
Limits to the scope of non-invasive prenatal testing (NIPT): an analysis of the international ethical framework for prenatal screening and an interview study with Dutch professionals
Adriana Kater-Kuipers, Eline M. Bunnik, I. D. de Beaufort, R. Galjaard
2018BMC Pregnancy and Childbirth50 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
Comparison of Multiplex Ligation-Dependent Probe Amplification and Karyotyping in Prenatal Diagnosis
E. M. Boormans, E. Birnie, D. Oepkes, R. Galjaard +2 more
2010Obstetrics and Gynecology48 citations
Semantic Scholar
Stable X Chromosome Reactivation in Female Human Induced Pluripotent Stem Cells
T. S. Barakat, M. Ghazvini, B. de Hoon, Tracy Li +10 more
2015Stem Cell Reports47 citations Open access
Semantic Scholar
Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study
C. J. Heesterbeek, S. Aukema, R. Galjaard, E. Boon +19 more
2022Journal of Clinical Oncology45 citations Open access
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
Ethnic differences in participation in prenatal screening for Down syndrome: A register‐based study
M. Fransen, Marleen Schoonen, J. Mackenbach, E. Steegers +6 more
2010Prenatal Diagnosis44 citations
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
Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives
K. V. D. van der Meij, Annabel Njio, L. Martin, Janneke T. Gitsels-van der Wal +8 more
2021European Journal of Human Genetics39 citations Open access
Semantic Scholar
XCI in preimplantation mouse and human embryos: first there is remodelling…
I. M. van den Berg, R. Galjaard, J. Laven, J. V. van Doorninck
2011Human Genetics39 citations Open access
Semantic Scholar
Rethinking counselling in prenatal screening: An ethical analysis of informed consent in the context of non‐invasive prenatal testing (NIPT)
A. Kater-Kuipers, I. D. de Beaufort, R. Galjaard, E. Bunnik
2020Bioethics38 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
Non‐invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins
Jacintha C. A. van Eekhout, M. Bekker, C. Bax, R. Galjaard
2023Prenatal Diagnosis32 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
Non‐invasive prenatal test uptake in socioeconomically disadvantaged neighborhoods
K. V. D. van der Meij, Caroline Kooij, M. Bekker, R. Galjaard +1 more
2021Prenatal Diagnosis30 citations Open access
Semantic Scholar
Offering a choice between NIPT and invasive PND in prenatal genetic counseling: the impact of clinician characteristics on patients’ test uptake
S. L. van der Steen, Diewertje Houtman, Iris M Bakkeren, R. Galjaard +4 more
2018European Journal of Human Genetics30 citations Open access
Semantic Scholar
Implementing non‐invasive prenatal testing (NIPT) in the Netherlands: An interview study exploring opinions about and experiences with societal pressure, reimbursement, and an expanding scope
Iris M Bakkeren, A. Kater-Kuipers, Eline M. Bunnik, A. Go +4 more
2019Journal of Genetic Counseling28 citations Open access
Semantic Scholar
0.5 Mb Array as a First‐Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice
M. Srebniak, Lisanne Mout, D. Van Opstal, R. Galjaard
2013Human Mutation28 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
A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome
Jacob W. P. Potuijt, Martijn Baas, R. Sukenik-Halevy, H. Douben +10 more
2018Genetics in Medicine26 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
Should pregnant women be charged for non-invasive prenatal screening? Implications for reproductive autonomy and equal access
Eline M. Bunnik, A. Kater-Kuipers, R. Galjaard, I. D. de Beaufort
2019Journal of Medical Ethics24 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 cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium
L. Lannoo, K. V. D. van der Meij, M. Bekker, L. de Catte +12 more
2023Prenatal Diagnosis22 citations Open access
Semantic Scholar
Current practice of first‐trimester ultrasound screening for structural fetal anomalies in developed countries
K. Bronsgeest, E. E. Lust, L. Henneman, N. Crombag +7 more
2023Prenatal Diagnosis22 citations Open access
Semantic Scholar
Controversies in Poland Syndrome: Alternative Diagnoses in Patients With Congenital Pectoral Muscle Deficiency.
Martijn Baas, E. Burger, D. Sneiders, R. Galjaard +2 more
2017Journal of Hand Surgery-American Volume22 citations Open access
Semantic Scholar
Embryonic delay in growth and development related to confined placental trisomy 16 mosaicism, diagnosed by I-Space Virtual Reality.
C. M. Verwoerd-Dikkeboom, P. N. van Heesch, A. H. Koning, R. Galjaard +2 more
2008Fertility and Sterility22 citations Open access
Semantic Scholar
Psychological impact of additional findings detected by genome-wide Non-Invasive Prenatal Testing (NIPT): TRIDENT-2 study
Iris M Bakkeren, L. Henneman, E. V. van Vliet-Lachotzki, Linda Martin +4 more
2023European Journal of Human Genetics21 citations Open access
Semantic Scholar
Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program
K. V. D. van der Meij, Qiu Ying F. van de Pol, M. Bekker, L. Martin +7 more
2022European Journal of Human Genetics21 citations Open access
Semantic Scholar
A multidisciplinary review of triphalangeal thumb
Jacob W. P. Potuijt, R. Galjaard, P. J. van der Spek, C. V. van Nieuwenhoven +3 more
2018Journal of Hand Surgery (European Volume)21 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
Ethnic and socio-economic differences in uptake of prenatal diagnostic tests for Down's syndrome.
M. Fransen, H. Wildschut, J. Mackenbach, E. Steegers +2 more
2010European Journal of Obstetrics, Gynecology, and Reproductive Biology20 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

D. Van Opstal×23
Invite
D. Van Opstal — researcher profile on SciRah
M. Srebniak×21
Invite
M. Srebniak — researcher profile on SciRah
L. Govaerts×18
Invite
L. Govaerts — researcher profile on SciRah
M. Joosten×18
Invite
M. Joosten — researcher profile on SciRah

×17

Invite

K. Diderich — researcher profile on SciRah

Invite

M. Knapen — researcher profile on SciRah

L. Henneman×11

Invite

L. Henneman — researcher profile on SciRah

Invite

A. Go — researcher profile on SciRah

Invite

M. Boter — researcher profile on SciRah

Invite

M. Bekker — researcher profile on SciRah

E. Sistermans×8

Invite

E. Sistermans — researcher profile on SciRah

F. D. de Vries×8

Invite

F. D. de Vries — researcher profile on SciRah