Publications by authors named "Ron Hochstenbach"

48Publications

A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.

Eur J Med Genet 2019 Sep 22;62(9):103543. Epub 2018 Sep 22.

Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2018.09.010DOI Listing
September 2019

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

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

Monosomy 20 mosaicism revealed by extensive karyotyping in blood and skin cells: case report and review of the literature.

Cytogenet Genome Res 2014 10;144(3):155-62. Epub 2014 Dec 10.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1159/000369606DOI Listing
April 2015

Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases.

Eur J Med Genet 2013 Jul 16;56(7):346-50. Epub 2013 Apr 16.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2013.04.001DOI Listing
July 2013

Unstable transmission of a familial complex chromosome rearrangement.

Am J Med Genet A 2012 Nov 17;158A(11):2888-93. Epub 2012 Sep 17.

Section of Genome Diagnostics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35580DOI Listing
November 2012

Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls.

Clin Dysmorphol 2011 Jul;20(3):136-42

Department of Medical Genetics, University Medical Center Utrecht, Lundlaan 6, Utrecht, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e3283472507DOI Listing
July 2011

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

Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.

Hum Mutat 2010 Dec 16;31(12):1343-51. Epub 2010 Nov 16.

Centre for Human Genetics, University Hospital, Catholic University of Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.21368DOI Listing
December 2010

A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies.

Genet Med 2010 Aug;12(8):478-85

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1097/GIM.0b013e3181e3914aDOI Listing
August 2010

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.

Eur J Hum Genet 2010 Jan;18(1):39-46

Department of Medical Genetics, University Medical Center Utrecht, PO Box 85090, Mail stop: KC.04.084.2, Utrecht, 3508 AB, The Netherlands.

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http://www.nature.com/articles/ejhg2009120
Publisher Site
http://dx.doi.org/10.1038/ejhg.2009.120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987154PMC
January 2010

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

Eur J Med Genet 2009 Jul-Aug;52(4):161-9. Epub 2009 Apr 9.

Department of Biomedical Genetics, University Medical Centre Utrecht, P.O. Box 85090, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2009.03.015DOI Listing
November 2009

A duplication including GATA4 does not co-segregate with congenital heart defects.

Am J Med Genet A 2009 May;149A(5):1062-6

Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32769DOI Listing
May 2009

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

Eur J Hum Genet 2009 Jan 1;17(1):129-32. Epub 2008 Oct 1.

Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://www.nature.com/articles/ejhg2008168
Publisher Site
http://dx.doi.org/10.1038/ejhg.2008.168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2985965PMC
January 2009

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation.

J Autism Dev Disord 2009 Feb 12;39(2):322-9. Epub 2008 Aug 12.

Department of Child and Adolescent Psychiatry, Rudolf Magnus Institute of Neuroscience, UMC Utrecht, HP B01.201, GA, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s10803-008-0627-xDOI Listing
February 2009

AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions.

Eur J Med Genet 2008 Nov-Dec;51(6):689-90. Epub 2008 Jul 16.

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http://dx.doi.org/10.1016/j.ejmg.2008.07.001DOI Listing
March 2009

Improved genetic manipulation of human embryonic stem cells.

Nat Methods 2008 May 6;5(5):389-92. Epub 2008 Apr 6.

Hubrecht Institute, Developmental Biology and Stem Cell Research, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/nmeth.1200DOI Listing
May 2008

Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.

Eur J Med Genet 2007 Nov-Dec;50(6):432-40. Epub 2007 Sep 9.

Department of Medical Genetics, University Medical Center Utrecht, Mail stop: KC.04.084.2, P.O. Box 85090, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2007.08.003DOI Listing
March 2008

A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.

Eur J Med Genet 2007 Mar-Apr;50(2):112-9. Epub 2006 Nov 3.

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2006.10.006DOI Listing
May 2007

Selective chromosome analysis in couples with two or more miscarriages: case-control study.

BMJ 2005 Jul 28;331(7509):137-41. Epub 2005 Jun 28.

Centre for Reproductive Medicine, Department of Obstetrics and Gynaecology, Academic Medical Centre, University of Amsterdam, PO Box 22660, 1100 DD Amsterdam, Netherlands.

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http://dx.doi.org/10.1136/bmj.38498.669595.8FDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC558698PMC
July 2005

Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism.

Am J Med Genet A 2004 Nov;130A(4):410-4

Department of Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30124DOI Listing
November 2004

Mosaic trisomy 22 in a boy with a terminal transverse limb reduction defect.

Clin Dysmorphol 2004 Apr;13(2):99-102

Department of Human Genetics, University Medical Centre Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/00019605-200404000-00009DOI Listing
April 2004

Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up.

Am J Med Genet 2002 Apr;109(2):125-32

Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.10322DOI Listing
April 2002

Spermatogenesis inDrosophila hydei: A genetic survey.

Rouxs Arch Dev Biol 1990 May;199(5):251-280

Department of Molecular and Developmental Genetics, Catholic University of Nijmegen, Faculty of Science, Toernooiveld, NL-6525 ED, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/BF01709505DOI Listing
May 1990