Why NIPT should be publicly funded

af Bunnik, Eline Maria, Kater-Kuipers, Adriana, Galjaard, Robert-Jan H, de Beaufort, Inez
Udgivet i J Med Ethics (2020)

Should pregnant women be charged for non-invasive prenatal screening? Implications for reproductive autonomy and equal access

af Bunnik, Eline M, Kater-Kuipers, Adriana, Galjaard, Robert-Jan H, de Beaufort, Inez D
Udgivet i J Med Ethics (2020)

Rethinking counselling in prenatal screening: An ethical analysis of informed consent in the context of non‐invasive prenatal testing (NIPT)

af Kater‐Kuipers, Adriana, de Beaufort, Inez D., Galjaard, Robert‐Jan H., Bunnik, Eline M.
Udgivet i Bioethics (2020)

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis

af Van Opstal, Diane, Boter, Marjan, Noomen, Petra, Srebniak, Malgorzata, Hamers, Guus, Galjaard, Robert-Jan H
Udgivet 2011

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

af Srebniak, Malgorzata, Boter, Marjan, Oudesluijs, Grétel, Joosten, Marieke, Govaerts, Lutgarde, Van Opstal, Diane, Galjaard, Robert-Jan H
Udgivet 2011

Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes

af Potuijt, Jacob W P, Hoogeboom, Jeannette, de Graaff, Esther, van Nieuwenhoven, Christianne A, Galjaard, Robert Jan H
Udgivet i J Med Genet (2020)

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification

af Srebniak, Malgorzata I, Diderich, Karin EM, Govaerts, Lutgarde CP, Joosten, Marieke, Riedijk, Sam, Galjaard, Robert Jan H, Van Opstal, Diane
Udgivet 2014

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

af Srebniak, Malgorzata I, Boter, Marjan, Verboven-Peerden, Carla MA, Looye-Bruinsma, Gerda AG, Oudesluijs, Gretel, Galjaard, Robert-Jan H, Van Opstal, Diane
Udgivet 2011

Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?

af Baas, Martijn, Potuijt, Jacob W.P., Hovius, Steven E.R., Hoogeboom, A. Jeannette M., Galjaard, Robert‐Jan H., van Nieuwenhoven, Christianne A.
Udgivet i Am J Med Genet A (2017)

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

af Baas, Martijn, Burger, Elise Bette, van den Ouweland, Ans MW, Hovius, Steven ER, de Klein, Annelies, van Nieuwenhoven, Christianne A, Galjaard, Robert Jan H
Udgivet i J Med Genet (2021)

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

af Van Opstal, Diane, Boter, Marjan, de Jong, Danielle, van den Berg, Cardi, Brüggenwirth, Hennie T, Wildschut, Hajo I J, de Klein, Annelies, Galjaard, Robert-Jan H
Udgivet 2009

Offering a choice between NIPT and invasive PND in prenatal genetic counseling: the impact of clinician characteristics on patients’ test uptake

af van der Steen, Sanne L., Houtman, Diewertje, Bakkeren, Iris M., Galjaard, Robert-Jan H., Polak, Marike G., Busschbach, Jan J., Tibben, Aad, Riedijk, Sam R.
Udgivet i Eur J Hum Genet (2018)

A multidisciplinary review of triphalangeal thumb

af Potuijt, Jacob W. P., Galjaard, Robert-Jan H., van der Spek, Peter J., van Nieuwenhoven, Christianne A., Ahituv, Nadav, Oberg, Kerby C., Hovius, Steven E. R.
Udgivet i J Hand Surg Eur Vol (2018)

Implementing non‐invasive prenatal testing (NIPT) in the Netherlands: An interview study exploring opinions about and experiences with societal pressure, reimbursement, and an expa...

af Bakkeren, Iris M., Kater‐Kuipers, Adriana, Bunnik, Eline M., Go, Attie T. J. I., Tibben, Aad, de Beaufort, Inez D., Galjaard, Robert‐Jan H., Riedijk, Sam R.
Udgivet i J Genet Couns (2019)

Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens’ attitudes

af Kater-Kuipers, Adriana, Bakkeren, Iris M., Riedijk, Sam R., Go, Attie T.J.I., Polak, Marike G., Galjaard, Robert-Jan H., de Beaufort, Inez D., Bunnik, Eline M.
Udgivet i Eur J Hum Genet (2020)

The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing

af Riedijk, Sam, Diderich, Karin E. M., van der Steen, Sanne L., Govaerts, Lutgarde C. P., Joosten, Marieke, Knapen, Maarten F. C. M., de Vries, Femke A. T., van Opstal, Diane, Tibben, Aad, Galjaard, Robert-Jan H.
Udgivet i J Clin Med (2014)

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

af Srebniak, Malgorzata I, Boter, Marjan, Oudesluijs, Gretel O, Cohen-Overbeek, Titia, Govaerts, Lutgarde CP, Diderich, Karin EM, Oegema, Renske, Knapen, Maarten FCM, van de Laar, Ingrid MBH, Joosten, Marieke, Van Opstal, Diane, Galjaard, Robert-Jan H
Udgivet 2012

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

af Srebniak, Malgorzata I, Diderich, Karin EM, Joosten, Marieke, Govaerts, Lutgarde CP, Knijnenburg, Jeroen, de Vries, Femke AT, Boter, Marjan, Lont, Debora, Knapen, Maarten FCM, de Wit, Merel C, Go, Attie TJI, Galjaard, Robert-Jan H, Van Opstal, Diane
Udgivet i Eur J Hum Genet (2016)

False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review

af Van Opstal, Diane, Srebniak, Malgorzata I., Polak, Joke, de Vries, Femke, Govaerts, Lutgarde C. P., Joosten, Marieke, Go, Attie T. J. I., Knapen, Maarten F. C. M., van den Berg, Cardi, Diderich, Karin E. M., Galjaard, Robert-Jan H.
Udgivet i PLoS One (2016)

Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT

af Srebniak, Malgorzata I., de Wit, Merel C., Diderich, Karin E. M., Govaerts, Lutgarde C. P., Joosten, Marieke, Knapen, Maarten F. C. M., Bos, Marnix J., Looye-Bruinsma, Gerda A. G., Koningen, Mieke, Go, Attie T. J. I., Galjaard, Robert Jan H., Van Opstal, Diane
Udgivet i Mol Cytogenet (2016)