Publications by authors named "Geert Vandeweyer"

58Publications

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nat Commun 2020 10 1;11(1):4932. Epub 2020 Oct 1.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41467-020-18723-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530681PMC
October 2020

The roles of patient groups in fostering cancer research.

Nat Rev Clin Oncol 2020 02;17(2):65-66

The ROS1ders, Inc., Mountain View, CA, USA.

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http://dx.doi.org/10.1038/s41571-019-0314-1DOI Listing
February 2020

Insufficient evidence for a role of SERPINF1 in otosclerosis.

Mol Genet Genomics 2019 Aug 9;294(4):1001-1006. Epub 2019 Apr 9.

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Universiteitsplein 1, Wilrijk, 2610, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00438-019-01558-8DOI Listing
August 2019

Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget's Disease of Bone and Modifies the Age of Onset.

Calcif Tissue Int 2019 06 6;104(6):613-621. Epub 2019 Feb 6.

Center of Medical Genetics, University of Antwerp & Antwerp University Hospital, Prins Boudewijnlaan 43, Edegem, 2650, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00223-019-00530-3DOI Listing
June 2019

Mutations in ADNP affect expression and subcellular localization of the protein.

Cell Cycle 2018 17;17(9):1068-1075. Epub 2018 Jul 17.

a Department of Medical Genetics , University of Antwerp , Antwerp , Belgium.

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http://dx.doi.org/10.1080/15384101.2018.1471313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110598PMC
December 2019

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

pyAmpli: an amplicon-based variant filter pipeline for targeted resequencing data.

BMC Bioinformatics 2017 Dec 14;18(1):554. Epub 2017 Dec 14.

Center of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43, 2650, Antwerp, Belgium.

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https://bmcbioinformatics.biomedcentral.com/articles/10.1186
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http://dx.doi.org/10.1186/s12859-017-1985-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729461PMC
December 2017

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.

J Mol Diagn 2017 05 22;19(3):445-459. Epub 2017 Mar 22.

Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2017.01.010DOI Listing
May 2017

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

Gene 2017 Mar 16;605:92-98. Epub 2016 Dec 16.

Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2016.12.013DOI Listing
March 2017

Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder.

Am J Med Genet B Neuropsychiatr Genet 2016 12 6;171(8):1049-1056. Epub 2016 Jul 6.

Department of Bioinformatics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.b.32473DOI Listing
December 2016

Multiplexed High Resolution Melting Assay for Versatile Sample Tracking in a Diagnostic and Research Setting.

J Mol Diagn 2016 Jan 21;18(1):32-8. Epub 2015 Nov 21.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2015.06.011DOI Listing
January 2016

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

Hum Mutat 2015 Aug 13;36(8):808-14. Epub 2015 Jun 13.

Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.22802DOI Listing
August 2015

A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samples.

PLoS One 2015 14;10(4):e0123872. Epub 2015 Apr 14.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0123872PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397063PMC
April 2016

Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1.

J Mol Endocrinol 2015 Apr 22;54(2):137-47. Epub 2015 Jan 22.

Department of OncologyUniversity of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Antwerp, BelgiumSection of EndocrinologyDepartment of Internal Medicine, Erasmus Medical Center, Dr. Molenwaterplein 50, 3015GE Rotterdam, The NetherlandsCenter of Medical GeneticsDepartment of PathologyUniversity of Antwerp and Antwerp University Hospital, Universiteitsplein 1, 2610 Wilrijk, Antwerp, Belgium Department of OncologyUniversity of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Antwerp, BelgiumSection of EndocrinologyDepartment of Internal Medicine, Erasmus Medical Center, Dr. Molenwaterplein 50, 3015GE Rotterdam, The NetherlandsCenter of Medical GeneticsDepartment of PathologyUniversity of Antwerp and Antwerp University Hospital, Universiteitsplein 1, 2610 Wilrijk, Antwerp, Belgium.

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http://dx.doi.org/10.1530/JME-14-0304DOI Listing
April 2015

VariantDB: a flexible annotation and filtering portal for next generation sequencing data.

Genome Med 2014 2;6(10):74. Epub 2014 Oct 2.

Department of Medical Genetics, University of Antwerp, 2650 Edegem, Antwerp Belgium.

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http://genomemedicine.biomedcentral.com/articles/10.1186/s13
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http://dx.doi.org/10.1186/s13073-014-0074-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4210545PMC
October 2014

Identification of rare copy number variants in high burden schizophrenia families.

Am J Med Genet B Neuropsychiatr Genet 2013 Apr 15;162B(3):273-82. Epub 2013 Mar 15.

Applied Molecular Genomics Group, VIB Department of Molecular Genetics, VIB, Universiteitsplein 1, B-2610 Antwerp, Belgium.

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http://doi.wiley.com/10.1002/ajmg.b.32146
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http://dx.doi.org/10.1002/ajmg.b.32146DOI Listing
April 2013

Detection and interpretation of genomic structural variation in health and disease.

Expert Rev Mol Diagn 2013 Jan;13(1):61-82

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

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http://www.tandfonline.com/doi/full/10.1586/erm.12.119
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http://dx.doi.org/10.1586/erm.12.119DOI Listing
January 2013

On the spot: very local chromosomal rearrangements.

F1000 Biol Rep 2012 1;4:22. Epub 2012 Nov 1.

Cognitive Genetics, Department of Medical Genetics, University of Antwerp Prins Boudewijnlaan 43, B-2650 Edegem, Belgium.

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http://dx.doi.org/10.3410/B4-22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505860PMC
November 2012

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

Autism Res 2012 Aug 11;5(4):277-81. Epub 2012 Jun 11.

Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1002/aur.1240DOI Listing
August 2012

The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

Am J Hum Genet 2012 Jun 17;90(6):1071-8. Epub 2012 May 17.

Department of Medical Genetics, University Hospital of Antwerp, University of Antwerp, Edegem, Belgium.

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http://dx.doi.org/10.1016/j.ajhg.2012.04.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370266PMC
June 2012

A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA.

Epilepsy Res 2012 May 13;99(3):346-9. Epub 2012 Jan 13.

Department of Medical Genetics, University of and University Hospital of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1016/j.eplepsyres.2011.12.009DOI Listing
May 2012

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.

Am J Med Genet A 2011 Feb 14;155A(2):343-8. Epub 2011 Jan 14.

Department of Medical Genetics, University of Antwerp and University Hospital, Antwerp, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.33810
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http://dx.doi.org/10.1002/ajmg.a.33810DOI Listing
February 2011

CNV-WebStore: online CNV analysis, storage and interpretation.

BMC Bioinformatics 2011 Jan 5;12. Epub 2011 Jan 5.

Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1186/1471-2105-12-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3024943PMC
January 2011

A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12.

Eur J Med Genet 2010 Sep-Oct;53(5):291-3. Epub 2010 Jun 4.

Department of Medical Genetics, University of Antwerp, University Hospital Antwerp, Antwerp, Belgium.

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http://linkinghub.elsevier.com/retrieve/pii/S176972121000049
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http://dx.doi.org/10.1016/j.ejmg.2010.05.006DOI Listing
January 2011

Balanced translocations in mental retardation.

Hum Genet 2009 Jul 5;126(1):133-47. Epub 2009 Apr 5.

Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00439-009-0661-6DOI Listing
July 2009