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Non‐invasive prenatal diagnosis for translocation carriers—YES please or NO go?
Published in:
Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 11, p. 2036, doi. 10.1111/aogs.14256
By:
- Srebniak, Malgorzata I.;
- Jehee, Fernanda S.;
- Joosten, Marieke;
- Boter, Marjan;
- de Valk, Walter G.;
- van der Helm, Robert;
- Sistermans, Erik A.;
- Voorhoeve, Els;
- Bhola, Shama;
- Hoffer, Mariette J. V.;
- den Hollander, Nicolette;
- Macville, Merryn V. E.;
- Van Opstal, Diane
Publication type:
Article
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Published in:
Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 6, p. 1106, doi. 10.1111/aogs.14053
By:
- 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.
Publication type:
Article
Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review.
Published in:
2020
By:
- Petersen, Olav B.;
- Smith, Eric;
- Van Opstal, Diane;
- Polak, Marike;
- Knapen, Maarten F. C. M.;
- Diderich, Karin E. M.;
- Bilardo, Caterina M.;
- Arends, Lidia R.;
- Vogel, Ida;
- Srebniak, Malgorzata I.
Publication type:
journal article
An 8q24 Gain in Pancreatic Juice Is a Candidate Biomarker for the Detection of Pancreatic Cancer.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5097, doi. 10.3390/ijms24065097
By:
- Levink, Iris J. M.;
- Srebniak, Malgorzata I.;
- De Valk, Walter G.;
- van Veghel-Plandsoen, Monique M.;
- Wagner, Anja;
- Cahen, Djuna L.;
- Fuhler, Gwenny M.;
- Bruno, Marco J.
Publication type:
Article
Social and medical need for whole genome high resolution NIPT.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1062
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
Publication type:
Article
The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1283, doi. 10.1002/ajmg.a.37565
By:
- Tomaszewska, Agnieszka;
- Behrendt, Jakub;
- Boter, Marjan;
- Wawrzkiewicz‐Witkowska, Angelika;
- Bos, Marnix J.;
- Podbiol‐Palenta, Agnieszka;
- Godula‐Stuglik, Urszula;
- Galjaard, Robert‐Jan H.;
- Srebniak, Malgorzata I.
Publication type:
Article
Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2347, doi. 10.1002/ajmg.a.36076
By:
- Tomaszewska, Agnieszka;
- Podbiol ‐ PalENta, Agnieszka;
- Boter, Marjan;
- Geisler, Gabriela;
- Wawrzkiewicz ‐ Witkowska, Angelika;
- Galjaard, Robert ‐ Jan H.;
- Zajączek, Stanislaw;
- Srebniak, Malgorzata I.
Publication type:
Article
A familial deletion of 16q21 characterized by an SNP array and associated with a normal phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1501, doi. 10.1002/ajmg.a.35912
By:
- Kowalczyk, Malgorzata;
- Tomaszewska, Agnieszka;
- Podbiol‐Palenta, Agnieszka;
- Remiszewska, Barbara;
- Galjaard, Robert Jan H.;
- Zajaczek, Stanislaw;
- Srebniak, Malgorzata I.
Publication type:
Article
Another Rare Prenatal Case of Post- Zygotic Mosaic Trisomy 17.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1196, doi. 10.1002/ajmg.a.35867
By:
- 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
Publication type:
Article
Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2412, doi. 10.1002/ajmg.a.35517
By:
- Verhagen, Judith M.A.;
- Diderich, Karin E.M.;
- Oudesluijs, Grétel;
- Mancini, Grazia M.S.;
- Eggink, Alex J.;
- Verkleij-Hagoort, Anna C.;
- Groenenberg, Irene A.L.;
- Willems, Patrick J.;
- du Plessis, Frederik A.;
- de Man, Stella A.;
- Srebniak, Malgorzata I.;
- van Opstal, Diane;
- Hulsman, Lorette O.M.;
- van Zutven, Laura J.C.M.;
- Wessels, Marja W.
Publication type:
Article
Liquid Biopsies for Colorectal Cancer and Advanced Adenoma Screening and Surveillance: What to Measure?
Published in:
Cancers, 2023, v. 15, n. 18, p. 4607, doi. 10.3390/cancers15184607
By:
- Eikenboom, Ellis L.;
- Wilting, Saskia M.;
- Deger, Teoman;
- Srebniak, Malgorzata I.;
- Van Veghel-Plandsoen, Monique;
- Boers, Ruben G.;
- Boers, Joachim B.;
- van IJcken, Wilfred F. J.;
- Gribnau, Joost H.;
- Atmodimedjo, Peggy;
- Dubbink, Hendrikus J.;
- Martens, John W. M.;
- Spaander, Manon C. W.;
- Wagner, Anja
Publication type:
Article
Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 856, doi. 10.1038/ejhg.2013.254
By:
- Srebniak, Malgorzata I;
- Diderich, Karin EM;
- Govaerts, Lutgarde CP;
- Joosten, Marieke;
- Riedijk, Sam;
- Galjaard, Robert Jan H;
- Van Opstal, Diane
Publication type:
Article
What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?
Published in:
Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00657-x
By:
- van Zutven, Laura J. C. M.;
- Mijalkovic, Jona;
- van Veghel-Plandsoen, Monique;
- Goense, Margaret;
- Polak, Marike;
- Knapen, Maarten F. C. M.;
- de Weerd, Sabina;
- Joosten, Marieke;
- Diderich, Karin E. M.;
- Hoefsloot, Lies H.;
- Van Opstal, Diane;
- Srebniak, Malgorzata I.
Publication type:
Article
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 647, doi. 10.1111/cge.14010
By:
- 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.
Publication type:
Article
Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.
Published in:
Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0279-z
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
Publication type:
Article
Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
Published in:
Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0253-9
By:
- Srebniak, Malgorzata I.;
- van Zutven, Laura J. C. M.;
- Petit, Florence;
- Bouquillon, Sonia;
- van Heel, Ilse P. J.;
- Knapen, Maarten F. C. M.;
- Cornette, Jerome M. J.;
- Kremer, Andreas;
- Van Opstal, Diane;
- Diderich, Karin E. M.
Publication type:
Article
False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review.
Published in:
PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0146794
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.
Publication type:
Article
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing.
Published in:
Application of Clinical Genetics, 2023, v. 16, p. 89, doi. 10.2147/TACG.S411185
By:
- Diderich, Karin EM;
- Klapwijk, Jasmijn E;
- van der Schoot, Vyne;
- Brüggenwirth, Hennie T;
- Joosten, Marieke;
- Srebniak, Malgorzata I
Publication type:
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.
Published in:
Prenatal Diagnosis, 2024, v. 44, n. 4, p. 401, doi. 10.1002/pd.6499
By:
- 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
Publication type:
Article
The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study.
Published in:
Prenatal Diagnosis, 2024, v. 44, n. 3, p. 289, doi. 10.1002/pd.6533
By:
- Eggenhuizen, Geerke M.;
- Go, Attie T. J. I.;
- Sauter, Zoë;
- Hoffer, Mariëtte J. V.;
- Haak, Monique C.;
- Geeven, Geert;
- Diderich, Karin E. M.;
- Joosten, Marieke;
- van den Born, Myrthe;
- Srebniak, Malgorzata I.;
- Van Opstal, Diane
Publication type:
Article
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 2, p. 162, doi. 10.1002/pd.6205
By:
- van Bever, Yolande;
- Groenenberg, Irene A. L.;
- Knapen, Maarten F. C. M.;
- Dessens, Arianne B.;
- Hannema, Sabine E.;
- Wolffenbuttel, Katja P.;
- Diderich, Karin E. M.;
- Hoefsloot, Lies H.;
- Srebniak, Malgorzata I.;
- Bruggenwirth, Hennie T.
Publication type:
Article
Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.
Published in:
2019
By:
- 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.;
- van Veen, Stefanie;
- van Koetsveld, Nicole
Publication type:
journal article
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
Published in:
Prenatal Diagnosis, 2018, v. 38, n. 12, p. 911, doi. 10.1002/pd.5354
By:
- 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.
Publication type:
Article
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
Published in:
2018
By:
- 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.;
- van Veen, Stefanie;
- van de Helm, Robert
Publication type:
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.
Published in:
Human Mutation, 2017, v. 38, n. 7, p. 880, doi. 10.1002/humu.23232
By:
- 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
Publication type:
Article
Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 319, doi. 10.1002/humu.22742
By:
- Opstal, Diane;
- Vries, Femke;
- Govaerts, Lutgarde;
- Boter, Marjan;
- Lont, Debora;
- Veen, Stefanie;
- Joosten, Marieke;
- Diderich, Karin;
- Galjaard, Robert‐Jan;
- Srebniak, Malgorzata I.
Publication type:
Article
0.5 Mb Array as a First-Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1298, doi. 10.1002/humu.22355
By:
- Srebniak, Malgorzata I.;
- Mout, Lisanne;
- Van Opstal, Diane;
- Galjaard, Robert‐Jan H.
Publication type:
Article

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