Publications by authors named "Wigard P Kloosterman"

62Publications

Single-Molecule Sequencing: Towards Clinical Applications.

Trends Biotechnol 2019 01 13;37(1):72-85. Epub 2018 Aug 13.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; All authors contributed equally to this work. Electronic address:

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http://dx.doi.org/10.1016/j.tibtech.2018.07.013DOI Listing
January 2019

From squiggle to basepair: computational approaches for improving nanopore sequencing read accuracy.

Genome Biol 2018 07 13;19(1):90. Epub 2018 Jul 13.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584, CG, Utrecht, The Netherlands.

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http://dx.doi.org/10.1186/s13059-018-1462-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6045860PMC
July 2018

The Genomic Characteristics and Origin of Chromothripsis.

Methods Mol Biol 2018 ;1769:3-19

Division of Biomedical Genetics, Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/978-1-4939-7780-2_1DOI Listing
February 2019

Same-day genomic and epigenomic diagnosis of brain tumors using real-time nanopore sequencing.

Acta Neuropathol 2017 11 21;134(5):691-703. Epub 2017 Jun 21.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière (ICM), Paris, France.

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http://dx.doi.org/10.1007/s00401-017-1743-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5645447PMC
November 2017

A framework for the detection of de novo mutations in family-based sequencing data.

Eur J Hum Genet 2017 02 23;25(2):227-233. Epub 2016 Nov 23.

Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2016.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255947PMC
February 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

The genomic characteristics and cellular origin of chromothripsis.

Curr Opin Cell Biol 2016 06 26;40:106-113. Epub 2016 Mar 26.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ceb.2016.03.003DOI Listing
June 2016

Substrate requirements for let-7 function in the developing zebrafish embryo.

Nucleic Acids Res 2016 07 11;44(12):5993. Epub 2016 Mar 11.

The Hubrecht Laboratory, Centre for Biomedical Genetics, 3584 CT Utrecht, The Netherlands.

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http://dx.doi.org/10.1093/nar/gkw173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4937305PMC
July 2016

The presence of extra chromosomes leads to genomic instability.

Nat Commun 2016 Feb 15;7:10754. Epub 2016 Feb 15.

Max Planck Institute of Biochemistry, Am Klopferspitz 18, Martinsried 82152, Germany.

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http://dx.doi.org/10.1038/ncomms10754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756715PMC
February 2016

The Diverse Effects of Complex Chromosome Rearrangements and Chromothripsis in Cancer Development.

Recent Results Cancer Res 2015 ;200:165-93

Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CG, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/978-3-319-20291-4_8DOI Listing
January 2016

GENETICS. Making heads or tails of shattered chromosomes.

Science 2015 Jun;348(6240):1205-6

Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584CG Utrecht, Netherlands.

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http://dx.doi.org/10.1126/science.aac5277DOI Listing
June 2015

Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.

Mol Cytogenet 2014 19;7(1):100. Epub 2014 Dec 19.

Department of Medical Genetics, Genome Diagnostics, P.O. Box 85090, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1186/s13039-014-0100-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299681PMC
January 2015

Prevalence and clinical implications of chromothripsis in cancer genomes.

Curr Opin Oncol 2014 Jan;26(1):64-72

aDepartment of Medical Genetics, University Medical Center Utrecht, Utrecht bDepartment of Oncogenomics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/CCO.0000000000000038DOI Listing
January 2014

Chromothripsis in congenital disorders and cancer: similarities and differences.

Curr Opin Cell Biol 2013 Jun 13;25(3):341-8. Epub 2013 Mar 13.

Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S09550674130003
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http://dx.doi.org/10.1016/j.ceb.2013.02.008DOI Listing
June 2013

Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI).

Fertil Steril 2012 Jan 17;97(1):141-6.e2. Epub 2011 Nov 17.

Department of Reproductive Medicine and Gynecology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.fertnstert.2011.10.032DOI Listing
January 2012

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.

Hum Mol Genet 2011 May 24;20(10):1916-24. Epub 2011 Feb 24.

Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands.

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http://dx.doi.org/10.1093/hmg/ddr073DOI Listing
May 2011

miR-451 regulates zebrafish erythroid maturation in vivo via its target gata2.

Blood 2009 Feb 10;113(8):1794-804. Epub 2008 Oct 10.

Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.

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http://dx.doi.org/10.1182/blood-2008-05-155812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647672PMC
February 2009

The diverse functions of microRNAs in animal development and disease.

Dev Cell 2006 Oct;11(4):441-50

Hubrecht Laboratory, Centre for Biomedical Genetics, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S153458070600402
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http://dx.doi.org/10.1016/j.devcel.2006.09.009DOI Listing
October 2006

Differences in vertebrate microRNA expression.

Proc Natl Acad Sci U S A 2006 Sep 18;103(39):14385-9. Epub 2006 Sep 18.

Hubrecht Laboratory, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands.

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http://dx.doi.org/10.1073/pnas.0603529103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1599972PMC
September 2006

Cloning and expression of new microRNAs from zebrafish.

Nucleic Acids Res 2006 12;34(9):2558-69. Epub 2006 May 12.

Hubrecht Laboratory, Centre for Biomedical Genetics, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands.

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http://dx.doi.org/10.1093/nar/gkl278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303176PMC
May 2006

RAKE and LNA-ISH reveal microRNA expression and localization in archival human brain.

RNA 2006 Feb 22;12(2):187-91. Epub 2005 Dec 22.

Division of Neuropathology and Department of Pathology & Laboratory Medicine, University of Pennsylvania School of Medicine, 605A Stellar-Chance Bldg., 421 Curie Blvd., Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1261/rna.2258506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1370897PMC
February 2006

In situ detection of miRNAs in animal embryos using LNA-modified oligonucleotide probes.

Nat Methods 2006 Jan;3(1):27-9

Hubrecht Laboratory, Center for Biomedical Genetics, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/nmeth843DOI Listing
January 2006

Substrate requirements for let-7 function in the developing zebrafish embryo.

Nucleic Acids Res 2004 7;32(21):6284-91. Epub 2004 Dec 7.

The Hubrecht Laboratory, Centre for Biomedical Genetics, 3584 CT Utrecht, The Netherlands.

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http://dx.doi.org/10.1093/nar/gkh968DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC535676PMC
December 2004