Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification
Srebniak, Malgorzata I, Diderich, Karin E M, Govaerts, Lutgarde C P, Joosten, Marieke, Riedijk, Sam, Galjaard, Robert Jan H, Van Opstal, Diane
Published in European journal of human genetics : EJHG (01.07.2014)
Published in European journal of human genetics : EJHG (01.07.2014)
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Journal Article
False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review
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 (15.01.2016)
Published in PloS one (15.01.2016)
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Journal Article
Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype
Ester, Wietske A, van Duyvenvoorde, Hermine A, de Wit, Caroline C, Broekman, Alexander J, Ruivenkamp, Claudia A. L, Govaerts, Lutgarde C. P, Wit, Jan M, Hokken-Koelega, Anita C. S, Losekoot, Monique
Published in The journal of clinical endocrinology and metabolism (01.12.2009)
Published in The journal of clinical endocrinology and metabolism (01.12.2009)
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Journal Article
Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype
Van Opstal, Diane, Veen, Stefanie, Joosten, Marieke, Diderich, Karin E.M., Govaerts, Lutgarde C.P., Polak, Joke, Koetsveld, Nicole, Boter, Marjan, Go, Attie T.J.I., Papatsonis, Dimitri N.M., Prinsen, Krista, Hoefsloot, Lies H., Srebniak, Malgorzata I.
Published in Prenatal diagnosis (01.10.2019)
Published in Prenatal diagnosis (01.10.2019)
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Journal Article
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
Van Opstal, Diane, Diderich, Karin E.M., Joosten, Marieke, Govaerts, Lutgarde C.P., Polak, Joke, Boter, Marjan, Saris, Jasper J., Cheung, Wai Yee, Veen, Stefanie, Helm, Robert, Go, Attie T.J.I., Knapen, Maarten F.C.M., Papatsonis, Dimitri N.M., Dijkman, Anneke, Vries, Femke, Galjaard, Robert‐Jan H., Hoefsloot, Lies H., Srebniak, Malgorzata I.
Published in Prenatal diagnosis (01.11.2018)
Published in Prenatal diagnosis (01.11.2018)
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Journal Article
Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT
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 Molecular cytogenetics (07.09.2016)
Published in Molecular cytogenetics (07.09.2016)
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Journal Article
Social and medical need for whole genome high resolution NIPT
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 Molecular genetics & genomic medicine (01.01.2020)
Published in Molecular genetics & genomic medicine (01.01.2020)
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Journal Article
Another Rare Prenatal Case of Post-Zygotic Mosaic Trisomy 17
de Vries, Femke A.T., Govaerts, Lutgarde C.P., Knijnenburg, Jeroen, Knapen, Maarten F.C.M., Oudesluijs, Grétel G., Lont, Debora, Noomen, Petra, de Graaff, Katja, Srebniak, Malgorzata I., Van Opstal, Diane
Published in American journal of medical genetics. Part A (01.05.2013)
Published in American journal of medical genetics. Part A (01.05.2013)
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Journal Article
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies
Klapwijk, Jasmijn E., Srebniak, Malgorzata I., Go, Attie T. J. I., Govaerts, Lutgarde C. P., Lewis, Celine, Hammond, Jennifer, Hill, Melissa, Lou, Stina, Vogel, Ida, Ormond, Kelly E., Diderich, Karin E. M., Brüggenwirth, Hennie T., Riedijk, Sam R.
Published in Clinical genetics (01.12.2021)
Published in Clinical genetics (01.12.2021)
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Journal Article
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results
Donze, Stephany H, Srebniak, Malgorzata I, Diderich, Karin E M, van den Born, Myrthe, Galjaard, Robert-Jan, Govaerts, Lutgarde C P, van der Schoot, Vyne, Knapen, Maarten F C M, Joosten, Marieke, Van Opstal, Diane
Published in Prenatal diagnosis (01.04.2024)
Published in Prenatal diagnosis (01.04.2024)
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Journal Article
Clinical experience of unexpected findings in prenatal array testing
Joosten, Marieke, Diderich, Karin EM, Van Opstal, Diane, Govaerts, Lutgarde CP, Riedijk, Sam R, Prinsen, A Krista E, De Vries, Femke AT, Go, Attie TJI, Galjaard, Robert-Jan H, Srebniak, Malgorzata I
Published in Biomarkers in medicine (01.08.2016)
Published in Biomarkers in medicine (01.08.2016)
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Journal Article
Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?
Srebniak, Malgorzata I., Govaerts, Lutgarde C.P., Diderich, Karin E.M., Joosten, Marieke, de Vries, Femke A.T., Galjaard, Robert-Jan H., Van Opstal, Diane
Published in Genetics in medicine (01.04.2016)
Published in Genetics in medicine (01.04.2016)
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Journal Article
The influence of SNP‐based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies
Srebniak, Malgorzata I., Knapen, Maarten F.C.M., Polak, Marike, Joosten, Marieke, Diderich, Karin E.M., Govaerts, Lutgarde C.P., Boter, Marjan, Kromosoeto, Joan N.R., Hassel, Daniella Aloysia C.M., Huijbregts, Gido, IJcken, Wilfred F.J., Heydanus, Roger, Dijkman, Anneke, Toolenaar, Toon, Vries, Femke A.T., Knijnenburg, Jeroen, Go, Attie T.J.I., Galjaard, Robert‐Jan H., Opstal, Diane
Published in Human mutation (01.07.2017)
Published in Human mutation (01.07.2017)
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Journal Article
The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing
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 Journal of clinical medicine (03.07.2014)
Published in Journal of clinical medicine (03.07.2014)
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Journal Article
Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities
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 in Molecular cytogenetics (13.03.2012)
Published in Molecular cytogenetics (13.03.2012)
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Journal Article
Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study
Heesterbeek, Catharina J, Aukema, Sietse M, Galjaard, Robert-Jan H, Boon, Elles M J, Srebniak, Malgorzata I, Bouman, Katelijne, Faas, Brigitte H W, Govaerts, Lutgarde C P, Hoffer, Mariëtte J V, den Hollander, Nicolette S, Lichtenbelt, Klaske D, van Maarle, Merel C, van Prooyen Schuurman, Lisanne, van Rij, Maartje C, Schuring-Blom, G Heleen, Stevens, Servi J C, Tan-Sindhunata, Gita, Zamani Esteki, Masoud, de Die-Smulders, Christine E M, Tjan-Heijnen, Vivianne C G, Henneman, Lidewij, Sistermans, Erik A, Macville, Merryn V E
Published in Journal of clinical oncology (01.08.2022)
Published in Journal of clinical oncology (01.08.2022)
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Journal Article
Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs
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 European journal of human genetics : EJHG (01.05.2016)
Published in European journal of human genetics : EJHG (01.05.2016)
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Journal Article
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
Diderich, Karin E. M., Romijn, Kathleen, Joosten, Marieke, Govaerts, Lutgarde C. P., Polak, Marike, Bruggenwirth, Hennie T., Wilke, Martina, Slegtenhorst, Marjon A., Bever, Yolande, Brooks, Alice S., Mancini, Grazia M. S., 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 obstetricia et gynecologica Scandinavica (01.06.2021)
Published in Acta obstetricia et gynecologica Scandinavica (01.06.2021)
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Journal Article
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.
Published in Genetics in medicine (01.08.2022)
Published in Genetics in medicine (01.08.2022)
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