Nicole de Leeuw

Nicole de Leeuw

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Nicole de Leeuw

Nicole de Leeuw

Publications by authors named "Nicole de Leeuw"

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Accurate detection of clinically relevant uniparental disomy from exome sequencing data.

Genet Med 2019 Nov 26. Epub 2019 Nov 26.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41436-019-0704-xDOI Listing
November 2019

A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome.

Eur J Med Genet 2019 Aug 27:103751. Epub 2019 Aug 27.

Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2019.103751DOI Listing
August 2019

Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation.

BMJ Case Rep 2019 Aug 30;12(8). Epub 2019 Aug 30.

Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.

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http://dx.doi.org/10.1136/bcr-2019-230941DOI Listing
August 2019

European guidelines for constitutional cytogenomic analysis.

Eur J Hum Genet 2019 01 1;27(1):1-16. Epub 2018 Oct 1.

CEQAS/GenQA, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, OX3 9DU, UK.

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http://dx.doi.org/10.1038/s41431-018-0244-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303289PMC
January 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

Duplications of SLC1A3: Associated with ADHD and autism.

Eur J Med Genet 2016 Aug 11;59(8):373-6. Epub 2016 Jun 11.

Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.06.003DOI Listing
August 2016

Novel genetic causes for cerebral visual impairment.

Eur J Hum Genet 2016 May 9;24(5):660-5. Epub 2015 Sep 9.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2015.186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930090PMC
May 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

The clustering of functionally related genes contributes to CNV-mediated disease.

Genome Res 2015 Jun 17;25(6):802-13. Epub 2015 Apr 17.

MRC Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3PT, United Kingdom;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4448677PMC
http://dx.doi.org/10.1101/gr.184325.114DOI Listing
June 2015

A 12q24.31 interstitial deletion in an adult male with MODY3: neuropsychiatric and neuropsychological characteristics.

Am J Med Genet A 2015 Jan 25;167A(1):169-73. Epub 2014 Nov 25.

Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands; Erasmus University Medical Centre, Department of Psychiatry, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36730DOI Listing
January 2015

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing.

Genom Data 2014 Dec;2:144-146

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen 6500 HB, The Netherlands.

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http://dx.doi.org/10.1016/j.gdata.2014.06.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526866PMC
December 2014

Central 22q11.2 deletions.

Am J Med Genet A 2014 Nov 14;164A(11):2707-23. Epub 2014 Aug 14.

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

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http://dx.doi.org/10.1002/ajmg.a.36711DOI Listing
November 2014

Early presentation of cystic kidneys in a family with a homozygous INVS mutation.

Am J Med Genet A 2014 Jul 26;164A(7):1627-34. Epub 2014 Mar 26.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36501DOI Listing
July 2014

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

Am J Med Genet A 2014 Jul 26;164A(7):1622-6. Epub 2014 Mar 26.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; Department of Clinical Science, University of Bergen, Bergen, Norway.

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http://dx.doi.org/10.1002/ajmg.a.36498DOI Listing
July 2014

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability.

Case Rep Genet 2014 30;2014:530134. Epub 2014 Mar 30.

Department of Human Genetics, Radboud University Medical Center, The Netherlands Division of Human Genetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1155/2014/530134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3985205PMC
May 2014

Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region.

Neuropsychiatr Dis Treat 2014 25;10:513-7. Epub 2014 Mar 25.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.2147/NDT.S58684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3971941PMC
April 2014

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

Gene 2014 Mar 16;538(1):30-5. Epub 2014 Jan 16.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.01.027DOI Listing
March 2014

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 2014

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

Eur J Med Genet 2014 Jan 12;57(1):40-3. Epub 2013 Nov 12.

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

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http://dx.doi.org/10.1016/j.ejmg.2013.10.007DOI Listing
January 2014

Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome.

Am J Hum Genet 2014 Jan;94(1):153-4

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882914PMC
January 2014

Severe myopia with unusual retinal anomalies and Dandy-Walker sequence in two sibs. A distinct new neuro-ocular disorder.

Ophthalmic Genet 2013 Dec 30;34(4):254-7. Epub 2013 Jan 30.

Dipartimento di Oculistica, Università Federico II , Naples , Italy .

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http://dx.doi.org/10.3109/13816810.2013.763992DOI Listing
December 2013

Clinical significance of de novo and inherited copy-number variation.

Hum Mutat 2013 Dec 10;34(12):1679-87. Epub 2013 Oct 10.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.22442DOI Listing
December 2013

Detection of clinically relevant copy number variants with whole-exome sequencing.

Hum Mutat 2013 Oct 30;34(10):1439-48. Epub 2013 Aug 30.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, 6500 HB, The Netherlands.

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http://dx.doi.org/10.1002/humu.22387DOI Listing
October 2013

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations.

Eur J Med Genet 2013 Sep 12;56(9):471-4. Epub 2013 Jul 12.

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

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http://dx.doi.org/10.1016/j.ejmg.2013.06.010DOI Listing
September 2013

Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.

Eur J Med Genet 2013 Aug 22;56(8):426-31. Epub 2013 May 22.

Department of Paediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2013.05.002DOI Listing
August 2013

Phelan-McDermid syndrome: clinical report of a 70-year-old woman.

Am J Med Genet A 2013 Jan 19;161A(1):158-61. Epub 2012 Nov 19.

Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35597DOI Listing
January 2013

Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3.

Clin Dysmorphol 2013 Jan;22(1):18-21

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

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http://dx.doi.org/10.1097/MCD.0b013e32835b6e39DOI Listing
January 2013

Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion.

Gene 2012 Dec 17;511(2):451-4. Epub 2012 Sep 17.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.gene.2012.09.018DOI Listing
December 2012

Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

Neuropsychiatr Dis Treat 2012 12;8:295-300. Epub 2012 Jul 12.

Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.

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http://dx.doi.org/10.2147/NDT.S32903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404708PMC
August 2012

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.

Eur J Hum Genet 2012 Jul 1;20(7):729-33. Epub 2012 Feb 1.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2012.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376266PMC
July 2012

Genome-wide arrays in routine diagnostics of hematological malignancies.

Hum Mutat 2012 Jun 9;33(6):941-8. Epub 2012 Apr 9.

Laboratory of Tumor Genetics, Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

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http://doi.wiley.com/10.1002/humu.22057
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http://dx.doi.org/10.1002/humu.22057DOI Listing
June 2012

A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy.

Eur J Med Genet 2012 May 27;55(5):358-61. Epub 2011 Nov 27.

Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2011.10.005DOI Listing
May 2012

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

J Med Genet 2011 Nov 3;48(11):776-8. Epub 2011 Oct 3.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://jmg.bmj.com/cgi/doi/10.1136/jmedgenet-2011-100147
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http://dx.doi.org/10.1136/jmedgenet-2011-100147DOI Listing
November 2011

Pierpont syndrome: a collaborative study.

Am J Med Genet A 2011 Sep 10;155A(9):2203-11. Epub 2011 Aug 10.

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.34147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495254PMC
September 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder.

Am J Med Genet A 2011 Feb 22;155A(2):392-7. Epub 2010 Dec 22.

Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.33802DOI Listing
February 2011

Two adjacent microdeletions in 8q11.2 cause a phenotype suggestive of the 22q11 deletion syndrome.

Clin Dysmorphol 2010 Jul;19(3):137-9

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

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http://dx.doi.org/10.1097/MCD.0b013e328338807dDOI Listing
July 2010

Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype.

Am J Med Genet A 2010 Feb;152A(2):441-6

Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland.

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http://dx.doi.org/10.1002/ajmg.a.33215DOI Listing
February 2010

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects.

Eur J Med Genet 2009 Mar-Jun;52(2-3):134-9. Epub 2009 Mar 19.

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

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http://dx.doi.org/10.1016/j.ejmg.2009.03.003DOI Listing
September 2009

Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.

Eur J Med Genet 2008 Nov-Dec;51(6):511-9. Epub 2008 Jul 19.

Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2008.07.002DOI Listing
March 2009

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.

Hum Mutat 2009 Mar;30(3):283-92

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1002/humu.20883
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http://dx.doi.org/10.1002/humu.20883DOI Listing
March 2009

A healthy, female chimera with 46,XX/46,XY karyotype.

J Pediatr Endocrinol Metab 2009 Jan;22(1):97-102

Departments of Neonatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1515/jpem.2009.22.1.97DOI Listing
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

Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review.

Am J Med Genet A 2008 May;146A(9):1225-9

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

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http://dx.doi.org/10.1002/ajmg.a.32289DOI Listing
May 2008

Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.

Am J Med Genet A 2008 Jan;146A(2):233-7

National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Republic of Ireland.

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http://dx.doi.org/10.1002/ajmg.a.32088DOI Listing
January 2008