A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study von Den Boer, Monique L, Dr, van Slegtenhorst, Marjon, PhD, De Menezes, Renée X, PhD, Cheok, Meyling H, PhD, Buijs-Gladdines, Jessica GCAM, BSc, Peters, Susan TCJM, BSc, Van Zutven, Laura JCM, PhD, Beverloo, H Berna, PhD, Van der Spek, Peter J, Prof, Escherich, Gaby, PhD, Horstmann, Martin A, Prof, Janka-Schaub, Gritta E, Prof, Kamps, Willem A, Prof, Evans, William E, Prof, Pieters, Rob, Prof

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N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region von Williams, Monique, Burlina, Alberto, Rubert, Laura, Polo, Giulia, Ruijter, George J. G., van den Born, Myrthe, Rüfenacht, Véronique, Haskins, Nantaporn, van Zutven, Laura J. C. M., Tuchman, Mendel, Saris, Jasper J., Häberle, Johannes, Caldovic, Ljubica

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Multiple tumors due to mosaic genome‐wide paternal uniparental disomy von Postema, Floor A.M., Bliek, Jet, Noesel, Carel J.M., Zutven, Laura J.C.M., Oosterwijk, Jan C., Hopman, Saskia M. J., Merks, Johannes H. M., Hennekam, Raoul C.

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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... von 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

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Health Problems in Adults with Prader-Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature von Rosenberg, Anna G W, Wellink, Charlotte M, Tellez Garcia, Juan M, Pellikaan, Karlijn, Van Abswoude, Denise H, Davidse, Kirsten, Van Zutven, Laura J C M, Brüggenwirth, Hennie T, Resnick, James L, Van der Lely, Aart J, De Graaff, Laura C G

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Phenotypic variability of atypical 22q11.2 deletions not including TBX1 von 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.

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The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature von Pellikaan, Karlijn, van Woerden, Geeske M., Kleinendorst, Lotte, Rosenberg, Anna G. W., Horsthemke, Bernhard, Grosser, Christian, van Zutven, Laura J. C. M., van Rossum, Elisabeth F. C., van der Lely, Aart J., Resnick, James L., Brüggenwirth, Hennie T., van Haelst, Mieke M., de Graaff, Laura C. G.

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Does non‐invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population‐based register study von 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

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Mixoploidy combined with aneuploidy in a 13 year‐old patient with severe multiple congenital abnormalities and intellectual disability von van Zutven, Laura J. C. M., Mancini, Grazia M. S., Bindels‐de Heus, Karen G. C. B., van den Akker, Erica L. T., Hulsman, Lorette O. M., Smit, Marjan, Berna Beverloo, H.

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A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family von KNIJNENBURG, Jeroen, VAN BEVER, Yolande, HULSMAN, Lorette O. M, VAN KEMPEN, Chantal A. P, BOLMAN, Galhana M, VAN LOON, Rosa Laura, BERNA BEVERLOO, H, VAN ZUTVEN, Laura J. C. M

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Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity von Knijnenburg, Jeroen, Uytdewilligen, Madiek E.W, van Hassel, Daniella A.C.M, Oostenbrink, Rianne, Eussen, Bert H.J, de Klein, Annelies, Brooks, Alice S, van Zutven, Laura J.C.M

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Identification of NUP98 abnormalities in acute leukemia: JARID1A (12p13) as a new partner gene von van Zutven, Laura J. C. M., Önen, Emine, Velthuizen, Sandra C. J. M., van Drunen, Ellen, von Bergh, Anne R. M., van den Heuvel-Eibrink, Marry M., Veronese, Angelo, Mecucci, Cristina, Negrini, Massimo, de Greef, Georgine E., Beverloo, H. Berna

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Social and medical need for whole genome high resolution NIPT von 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

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High incidence of t(7;12)(q36;p13) in infant AML but not in infant ALL, with a dismal outcome and ectopic expression of HLXB9 von von Bergh, Anne R. M., van Drunen, Ellen, van Wering, Elisabeth R., van Zutven, Laura J. C. M., Hainmann, Ina, Lönnerholm, Gudmar, Meijerink, Jules P., Pieters, Rob, Beverloo, H. Berna

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Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication? von 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

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Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion von Verhoeven, Willem M.A, Egger, Jos I.M, Goffin, Luc, van Zutven, Laura J.C.M, Mancini, Grazia M.S

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Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p von Oegema, Renske, van Zutven, Laura J.C.M, van Hassel, Daniella A.C.M, Huijbregts, Guido C.M, Hoogeboom, A. Jeannette M

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Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review von Van Zutven, Laura J.C.M., van Bever, Yolande, Van Nieuwland, Carolien C.M., Huijbregts, Gido C.M., Van Opstal, Diane, von Bergh, Anne R.M., Corel, Linda J.A., Tibboel, Dick, Wouters, Cokkie H., Poddighe, Pino J.

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Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation von HAGENS, Olivier, DUBOS, Aline, VAN BOKHOVEN, Hans, GECZ, Jozef, DOLLFUS, Hélène, ROPERS, Hans-Hilger, SCHWARTZ, Charles E, DE CASSIA STOCCO DOS SANTOS, Rita, KALSCHEUER, Vera, HANAUER, André, ABIDI, Fatima, BARBI, Gotthold, VAN ZUTVEN, Laura, HOELTZENBEIN, Maria, TOMMERUP, Niels, MORAINE, Claude, FRYNS, Jean-Pierre, CHELLY, Jamel

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Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping von de Vree, Paula J P, de Wit, Elzo, Yilmaz, Mehmet, van de Heijning, Monique, Klous, Petra, Verstegen, Marjon J A M, Wan, Yi, Teunissen, Hans, Krijger, Peter H L, Geeven, Geert, Eijk, Paul P, Sie, Daoud, Ylstra, Bauke, Hulsman, Lorette O M, van Dooren, Marieke F, van Zutven, Laura J C M, van den Ouweland, Ans, Verbeek, Sjef, van Dijk, Ko Willems, Cornelissen, Marion, Das, Atze T, Berkhout, Ben, Sikkema-Raddatz, Birgit, van den Berg, Eva, van der Vlies, Pieter, Weening, Desiree, den Dunnen, Johan T, Matusiak, Magdalena, Lamkanfi, Mohamed, Ligtenberg, Marjolijn J L, ter Brugge, Petra, Jonkers, Jos, Foekens, John A, Martens, John W, van der Luijt, Rob, van Amstel, Hans Kristian Ploos, van Min, Max, Splinter, Erik, de Laat, Wouter

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