Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results
Huijsdens–van Amsterdam, Karin, Straver, Roy, van Maarle, Merel C, Knegt, Alida C, Van Opstal, Diane, Sleutels, Frank, Smeets, Dominique, Sistermans, Erik A
Published in Genetics in medicine (01.11.2018)
Published in Genetics in medicine (01.11.2018)
Get full text
Journal Article
Does non‐invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population‐based register study
Groot‐van der Mooren, Maurike, Graaf, Gert, Weijerman, Michel E, Hoffer, Mariette J. V, Knijnenburg, Jeroen, Kevie‐Kersemaekers, Anne‐Marie M. F, Kooper, Angelique J. A, Voorhoeve, Els, Sikkema‐Raddatz, Birgit, Zutven, Laura J. C. M, Srebniak, Malgorzata Ilona, Huijsdens‐van Amsterdam, Karin, Engelen, John J. M, Smeets, Dominique, Kaam, Anton H, Cornel, Martina C
Published in Prenatal diagnosis (01.09.2021)
Published in Prenatal diagnosis (01.09.2021)
Get full text
Journal Article
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Verberne, Eline A., Westermann, Jonne M., Vries, Tamar I., Ecury‐Goossen, Ginette M., Lo‐A‐Njoe, Shirley M., Manshande, Meindert E., Faries, Sonja, Veenhuis, Hans D., Philippi, Patricia, Falix, Farah A., Rosina‐Angelista, Irsa, Ponson‐Wever, Maria, Rafael‐Croes, Louise, Thorsen, Patricia, Arends, Eric, Vroomen, Maartje, Nagelkerke, Sietse Q., Tilanus, Martijn, Veken, Lars T., Huijsdens‐van Amsterdam, Karin, Kevie‐Kersemaekers, Anne‐Marie, Alders, Mariëlle, Mannens, Marcel M. A. M., Haelst, Mieke M.
Published in American journal of medical genetics. Part A (01.06.2022)
Published in American journal of medical genetics. Part A (01.06.2022)
Get full text
Journal Article
Response to letter to the editor PD‐17‐0390, a comment on “Comparing methods for fetal fraction determination and quality control of NIPT samples”
Beek, Daphne M., Straver, Roy, Weiss, Marjan M., Boon, Elles M.J., Huijsdens‐van Amsterdam, Karin, Oudejans, Cees B.M., Reinders, Marcel J.T., Sistermans, Erik A.
Published in Prenatal diagnosis (01.12.2017)
Published in Prenatal diagnosis (01.12.2017)
Get full text
Journal Article
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
Van Opstal, Diane, van Maarle, Merel C, Lichtenbelt, Klaske, Weiss, Marjan M, Schuring-Blom, Heleen, Bhola, Shama L, Hoffer, Mariette J V, Huijsdens-van Amsterdam, Karin, Macville, Merryn V, Kooper, Angelique J A, Faas, Brigitte H W, Govaerts, Lutgarde, Tan-Sindhunata, Gita M, den Hollander, Nicolette, Feenstra, Ilse, Galjaard, Robert-Jan H, Oepkes, Dick, Ghesquiere, Stijn, Brouwer, Rutger W W, Beulen, Lean, Bollen, Sander, Elferink, Martin G, Straver, Roy, Henneman, Lidewij, Page-Christiaens, Godelieve C, Sistermans, Erik A
Published in Genetics in medicine (01.05.2018)
Published in Genetics in medicine (01.05.2018)
Get full text
Journal Article
Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact
Oepkes, Dick, Page-Christiaens, G. C. (Lieve), Bax, Caroline J., Bekker, Mireille N., Bilardo, Catia M., Boon, Elles M. J., Schuring-Blom, G. Heleen, Coumans, Audrey B. C., Faas, Brigitte H., Galjaard, Robert-Jan H., Go, Attie T., Henneman, Lidewij, Macville, Merryn V. E., Pajkrt, Eva, Suijkerbuijk, Ron F., Huijsdens-van Amsterdam, Karin, Van Opstal, Diane, Verweij, E. J. (Joanne), Weiss, Marjan M., Sistermans, Erik A.
Published in Prenatal diagnosis (01.12.2016)
Published in Prenatal diagnosis (01.12.2016)
Get full text
Journal Article
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
Cuinat, Silvestre, Nizon, Mathilde, Isidor, Bertrand, Stegmann, Alexander, van Jaarsveld, Richard H., van Gassen, Koen L., van der Smagt, Jasper J., Volker-Touw, Catharina M.L., Holwerda, Sjoerd J.B., Terhal, Paulien A., Schuhmann, Sarah, Vasileiou, Georgia, Khalifa, Mohamed, Nugud, Alaa A., Yasaei, Hemad, Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Deb, Wallid, Besnard, Thomas, Simon, Marleen E.H., Amsterdam, Karin Huijsdens-van, Verbeek, Nienke E., Matalon, Dena, Dykzeul, Natalie, White, Shana, Spiteri, Elizabeth, Devriendt, Koen, Boogaerts, Anneleen, Willemsen, Marjolein, Brunner, Han G., Sinnema, Margje, De Vries, Bert B.A., Gerkes, Erica H., Pfundt, Rolph, Izumi, Kosuke, Krantz, Ian D., Xu, Zhou L., Murrell, Jill R., Valenzuela, Irene, Cusco, Ivon, Rovira-Moreno, Eulàlia, Yang, Yaping, Bizaoui, Varoona, Patat, Olivier, Faivre, Laurence, Tran-Mau-Them, Frederic, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Philippe, Christophe, Bezieau, Stéphane, Cogné, Benjamin
Published in Genetics in medicine (01.08.2022)
Published in Genetics in medicine (01.08.2022)
Get full text
Journal Article
Comparing methods for fetal fraction determination and quality control of NIPT samples
Beek, Daphne M., Straver, Roy, Weiss, Marian M., Boon, Elles M. J., Huijsdens‐van Amsterdam, Karin, Oudejans, Cees B. M., Reinders, Marcel J. T., Sistermans, Erik A.
Published in Prenatal diagnosis (01.08.2017)
Published in Prenatal diagnosis (01.08.2017)
Get full text
Journal Article
Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome
Huijsdens-van Amsterdam, Karin, Page-Christiaens, Lieve, Flowers, Nicola, Bonifacio, Michael D, Ellis, Katie M Battese, Vogel, Ida, Vestergaard, Else Marie, Miguelez, Javier, de Carvalho, Mario Henrique Burlacchini, Sistermans, Erik A, Pertile, Mark D
Published in European journal of human genetics : EJHG (01.10.2018)
Published in European journal of human genetics : EJHG (01.10.2018)
Get full text
Journal Article
Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism
Huijsdens-van Amsterdam, Karin, Barge-Schaapveld, Daniela Qcm, Mathijssen, Inge B, Alders, Mariëlle, Pajkrt, Eva, Knegt, Alida C
Published in Molecular cytogenetics (27.01.2012)
Published in Molecular cytogenetics (27.01.2012)
Get full text
Journal Article
Trisomy 4 mosaicism: Delineation of the phenotype
Bouman, Arjan, van der Kevie-Kersemaekers, Anne-Marie, Huijsdens-van Amsterdam, Karin, Dahhan, Nordin, Knegt, Lia, Vansenne, Fleur, Cobben, Jan Maarten
Published in American journal of medical genetics. Part A (01.04.2016)
Published in American journal of medical genetics. Part A (01.04.2016)
Get full text
Journal Article
Comparing methods for fetal fraction determination and quality control of NIPT samples: Comparing fetal fraction and quality control tools for NIPT
van Beek, Daphne M., Straver, Roy, Weiss, Marian M., Boon, Elles M. J., Huijsdens-van Amsterdam, Karin, Oudejans, Cees B. M., Reinders, Marcel J. T., Sistermans, Erik A.
Published in Prenatal diagnosis (01.08.2017)
Published in Prenatal diagnosis (01.08.2017)
Get full text
Journal Article