Prenatal diagnosis of cervical ribs by three-dimensional ultrasound in a foetus with a herniated Dandy-Walker cyst

by Schut, Pauline, Verdijk, Robert M, Joosten, Marieke, Eggink, Alex J
Published in BMJ Case Rep (2018)

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

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

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 Re...

by Valk, Peter J. M., Vankan, Yolanda, Joosten, Marieke, Jenkins, Nancy A., Copeland, Neal G., Löwenberg, Bob, Delwel, Ruud
Published 1999

Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan

by Srebniak, Malgorzata Ilona, Knapen, Maarten F. C. M., Joosten, Marieke, Diderich, Karin E. M., Galjaard, Sander, Van Opstal, Diane
Published in Mol Cytogenet (2021)

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

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

Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?

by Diderich, Karin, Joosten, Marieke, Govaerts, Lutgarde, Van Opstal, Diane, Go, Attie, Knapen, Maarten, Galjaard, Robert‐Jan, Hoefsloot, Lies, Srebniak, Malgorzata
Published in Prenat Diagn (2019)

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

by 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.
Published in J Clin Med (2014)

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

by 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
Published 2012

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

by 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
Published in 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

by 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.
Published in PLoS One (2016)

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

by Van Opstal, Diane, van Veen, Stefanie, Joosten, Marieke, Diderich, Karin E.M., Govaerts, Lutgarde C.P., Polak, Joke, van Koetsveld, Nicole, Boter, Marjan, Go, Attie T.J.I., Papatsonis, Dimitri N.M., Prinsen, Krista, Hoefsloot, Lies H., Srebniak, Malgorzata I.
Published in Prenat Diagn (2019)

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

by 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
Published in Mol Cytogenet (2016)

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

by van den Bogaard, Ellen H. J., van Geel, Michel, van Vlijmen-Willems, Ivonne M. J. J., Jansen, Patrick A. M., Peppelman, Malou, van Erp, Piet E. J., Atalay, Selma, Venselaar, Hanka, Simon, Marleen E. H., Joosten, Marieke, Schalkwijk, Joost, Zeeuwen, Patrick L. J. M.
Published in Genet Med (2018)

Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast

by Van Opstal, Diane, Eggenhuizen, Geerke M., Joosten, Marieke, Diderich, Karin, Govaerts, Lutgarde, Galjaard, Robert‐Jan, Go, Attie, Knapen, Maarten, Boter, Marjan, Cheung, Wai Y., van Koetsveld, Nicole, van Veen, Stefanie, de Valk, Walter G., Jehee, Fernanda, de Vries, Femke, Hollink, Iris, Hoefsloot, Lies, Srebniak, Malgorzata
Published in Prenat Diagn (2020)

Social and medical need for whole genome high resolution NIPT

by Srebniak, Malgorzata I., Knapen, Maarten F. C. M., Govaerts, Lutgarde C. P., Polak, Marike, Joosten, Marieke, Diderich, Karin E. M., van Zutven, Laura J. C. M., Prinsen, Krista A. K. E., Riedijk, Sam, Go, Attie T. J. I., Galjaard, Robert‐Jan H., Hoefsloot, Lies H., Van Opstal, Diane
Published in Mol Genet Genomic Med (2019)

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

by Van Opstal, Diane, Diderich, Karin E.M., Joosten, Marieke, Govaerts, Lutgarde C.P., Polak, Joke, Boter, Marjan, Saris, Jasper J., Cheung, Wai Yee, van Veen, Stefanie, van de Helm, Robert, Go, Attie T.J.I., Knapen, Maarten F.C.M., Papatsonis, Dimitri N.M., Dijkman, Anneke, de Vries, Femke, Galjaard, Robert‐Jan H., Hoefsloot, Lies H., Srebniak, Malgorzata I.
Published in Prenat Diagn (2018)

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

by Diderich, Karin E. M., Romijn, Kathleen, Joosten, Marieke, Govaerts, Lutgarde C. P., Polak, Marike, Bruggenwirth, Hennie T., Wilke, Martina, van Slegtenhorst, Marjon A., van Bever, Yolande, Brooks, Alice S., Mancini, Grazia M. S., van de Laar, Ingrid M. B. H., Kromosoeto, Joan N. R., Knapen, Maarten F. C. M., Go, Attie T. J. I., Van Opstal, Diane, Hoefsloot, Lies H., Galjaard, Robert‐Jan H., Srebniak, Malgorzata I.
Published in Acta Obstet Gynecol Scand (2020)

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

by Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba, Rousseau, Justine, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian, Altmüller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, María Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh, Campeau, Philippe M.
Published in Am J Hum Genet (2019)