Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.

Autor: de Vree PJ; 1] Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands. [2]., de Wit E; 1] Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands. [2] Cergentis B.V., Utrecht, the Netherlands. [3]., Yilmaz M; Cergentis B.V., Utrecht, the Netherlands., van de Heijning M; Cergentis B.V., Utrecht, the Netherlands., Klous P; Cergentis B.V., Utrecht, the Netherlands., Verstegen MJ; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands., Wan Y; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands., Teunissen H; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands., Krijger PH; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands., Geeven G; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands., Eijk PP; Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands., Sie D; Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands., Ylstra B; Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands., Hulsman LO; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., van Dooren MF; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., van Zutven LJ; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., van den Ouweland A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Verbeek S; 1] Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands. [2] Department of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands., van Dijk KW; 1] Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands. [2] Department of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands., Cornelissen M; Laboratory of Experimental Virology, Department of Medical Microbiology, Center for Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Das AT; Laboratory of Experimental Virology, Department of Medical Microbiology, Center for Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Berkhout B; Laboratory of Experimental Virology, Department of Medical Microbiology, Center for Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Sikkema-Raddatz B; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., van den Berg E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., van der Vlies P; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Weening D; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., den Dunnen JT; Leiden Genome Technology Center, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Matusiak M; 1] Department of Medical Protein Research, VIB, Ghent, Belgium. [2] Department of Biochemistry, Ghent University, Ghent, Belgium., Lamkanfi M; 1] Department of Medical Protein Research, VIB, Ghent, Belgium. [2] Department of Biochemistry, Ghent University, Ghent, Belgium., Ligtenberg MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., ter Brugge P; Division of Molecular Pathology and Cancer Genomics Center, The Netherlands Cancer Institute, Amsterdam, the Netherlands., Jonkers J; Division of Molecular Pathology and Cancer Genomics Center, The Netherlands Cancer Institute, Amsterdam, the Netherlands., Foekens JA; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus University Medical Center, Rotterdam, the Netherlands., Martens JW; Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus University Medical Center, Rotterdam, the Netherlands., van der Luijt R; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Amstel HK; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Min M; Cergentis B.V., Utrecht, the Netherlands., Splinter E; Cergentis B.V., Utrecht, the Netherlands., de Laat W; 1] Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands. [2] Cergentis B.V., Utrecht, the Netherlands.

Publikováno v: Nature biotechnology [Nat Biotechnol] 2014 Oct; Vol. 32 (10), pp. 1019-25. Date of Electronic Publication: 2014 Aug 17.

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

Autor: Verhagen JM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Diderich KE, Oudesluijs G, Mancini GM, Eggink AJ, Verkleij-Hagoort AC, Groenenberg IA, Willems PJ, du Plessis FA, de Man SA, Srebniak MI, van Opstal D, Hulsman LO, van Zutven LJ, Wessels MW

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2012 Oct; Vol. 158A (10), pp. 2412-20. Date of Electronic Publication: 2012 Aug 14.

Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p.

Autor: Oegema R; Department of Clinical Genetics, Erasmus MC, Postbus 2040, 3000 CA, Rotterdam, The Netherlands. r.oegema@erasmusmc.nl, van Zutven LJ, van Hassel DA, Huijbregts GC, Hoogeboom AJ

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2012 Apr; Vol. 55 (4), pp. 265-8. Date of Electronic Publication: 2012 Feb 21.

A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study.

Autor: Den Boer ML; Department of Paediatric Oncology and Haematology, Erasmus MC-Sophia Children's Hospital, University Medical Centre, Rotterdam, Netherlands. m.l.denboer@erasmusmc.nl, van Slegtenhorst M, De Menezes RX, Cheok MH, Buijs-Gladdines JG, Peters ST, Van Zutven LJ, Beverloo HB, Van der Spek PJ, Escherich G, Horstmann MA, Janka-Schaub GE, Kamps WA, Evans WE, Pieters R

Publikováno v: The Lancet. Oncology [Lancet Oncol] 2009 Feb; Vol. 10 (2), pp. 125-34. Date of Electronic Publication: 2009 Jan 08.

Identification of NUP98 abnormalities in acute leukemia: JARID1A (12p13) as a new partner gene.

Autor: van Zutven LJ; Department of Genetics, Centre for Biomedical Genetics, Erasmus MC, Rotterdam, The Netherlands., Onen E, Velthuizen SC, van Drunen E, von Bergh AR, van den Heuvel-Eibrink MM, Veronese A, Mecucci C, Negrini M, de Greef GE, Beverloo HB

Publikováno v: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2006 May; Vol. 45 (5), pp. 437-46.