Why NIPT should be publicly funded

מאת Bunnik, Eline Maria, Kater-Kuipers, Adriana, Galjaard, Robert-Jan H, de Beaufort, Inez
הוצא לאור ב J Med Ethics (2020)

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

מאת Bunnik, Eline M, Kater-Kuipers, Adriana, Galjaard, Robert-Jan H, de Beaufort, Inez D
הוצא לאור ב J Med Ethics (2020)

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

מאת Kater‐Kuipers, Adriana, de Beaufort, Inez D., Galjaard, Robert‐Jan H., Bunnik, Eline M.
הוצא לאור ב Bioethics (2020)

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

מאת Van Opstal, Diane, Boter, Marjan, Noomen, Petra, Srebniak, Malgorzata, Hamers, Guus, Galjaard, Robert-Jan H
יצא לאור 2011

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

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

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

מאת Potuijt, Jacob W P, Hoogeboom, Jeannette, de Graaff, Esther, van Nieuwenhoven, Christianne A, Galjaard, Robert Jan H
הוצא לאור ב J Med Genet (2020)

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

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

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

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

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

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

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

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

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

מאת 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
יצא לאור 2009

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

מאת 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.
הוצא לאור ב Eur J Hum Genet (2018)

A multidisciplinary review of triphalangeal thumb

מאת 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.
הוצא לאור ב 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...

מאת 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.
הוצא לאור ב J Genet Couns (2019)

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

מאת 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.
הוצא לאור ב Eur J Hum Genet (2020)

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

מאת 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.
הוצא לאור ב J Clin Med (2014)

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

מאת 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
יצא לאור 2012

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

מאת 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
הוצא לאור ב 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

מאת 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.
הוצא לאור ב PLoS One (2016)

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

מאת 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
הוצא לאור ב Mol Cytogenet (2016)