Publications by authors named "Joris Robert Vermeesch"

76Publications

Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain.

Transl Psychiatry 2020 Nov 2;10(1):369. Epub 2020 Nov 2.

Department of Clinical Genetics, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41398-020-01060-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608644PMC
November 2020

PREIMPLANTATION GENETIC TESTING: Single-cell technologies at the forefront of PGT and embryo research.

Reproduction 2020 Nov;160(5):A19-A31

Laboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1530/REP-20-0102DOI Listing
November 2020

International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies.

Prenat Diagn 2020 Oct 5. Epub 2020 Oct 5.

Division of Maternal Fetal Medicine and Reproductive Genetics, Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/pd.5832DOI Listing
October 2020

Noninvasive Prenatal Testing and Detection of Occult Maternal Malignancies.

Clin Chem 2019 12 11;65(12):1484-1486. Epub 2019 Oct 11.

Department of Human Genetics, KU Leuven, Leuven, Belgium;

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http://dx.doi.org/10.1373/clinchem.2019.306548DOI Listing
December 2019

Detection of incipient tumours by screening of circulating plasma DNA: hype or hope?

Acta Clin Belg 2020 Feb 3;75(1):9-18. Epub 2019 Oct 3.

Department of Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1080/17843286.2019.1671653DOI Listing
February 2020

Pregnant women with confirmed neoplasms should not have noninvasive prenatal testing.

Prenat Diagn 2019 11 28;39(12):1162-1165. Epub 2019 Aug 28.

Department of Oncology, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.5544DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899454PMC
November 2019

Current Controversies in Prenatal Diagnosis 3: Gene editing should replace embryo selection following PGD.

Prenat Diagn 2019 04;39(5):344-350

Department Obstetrics and Gynecology, Herbert Wertheim College of Medicine, Florida International University, Miami, FL, USA.

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http://doi.wiley.com/10.1002/pd.5442
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http://dx.doi.org/10.1002/pd.5442DOI Listing
April 2019

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.

Prenat Diagn 2018 08 19;38(9):654-663. Epub 2018 Jul 19.

Department for Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.5327DOI Listing
August 2018

Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios.

Stat Appl Genet Mol Biol 2018 04 28;17(2). Epub 2018 Apr 28.

Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.

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http://www.degruyter.com/view/j/sagmb.2018.17.issue-2/sagmb-
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http://dx.doi.org/10.1515/sagmb-2017-0026DOI Listing
April 2018

A speculative outlook on embryonic aneuploidy: Can molecular pathways be involved?

Dev Biol 2019 03 31;447(1):3-13. Epub 2018 Jan 31.

Department of Biomedicine, Institute of Bio- and Translational Medicine, University of Tartu, Tartu 50411, Estonia; Competence Centre on Health Technologies, Tartu 50410, Estonia; Department of Obstetrics and Gynecology, Institute of Clinical Medicine, University of Tartu, Tartu 51014, Estonia; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki 00029, Finland.

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http://dx.doi.org/10.1016/j.ydbio.2018.01.014DOI Listing
March 2019

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Eur J Hum Genet 2018 03 22;26(3):359-366. Epub 2018 Jan 22.

Department of Human Genetics, KU Leuven, O&N I Herestraat 49, box 602, 3000, Leuven, Belgium.

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http://dx.doi.org/10.1038/s41431-017-0032-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839023PMC
March 2018

An incidental finding of maternal multiple myeloma by non invasive prenatal testing.

Prenat Diagn 2017 12 28;37(12):1257-1260. Epub 2017 Nov 28.

Department of Human Genetics, Center for Human Genetics, and Department of Hematology, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.5168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5767741PMC
December 2017

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos.

Hum Reprod 2017 03;32(3):687-697

Department of Human Genetics, Centre for Human Genetics, University Hospitals Leuven, O&N I Herestraat 49 - box 602, KU Leuven, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1093/humrep/dex011DOI Listing
March 2017

Current controversies in prenatal diagnosis 3: industry drives innovation in research and clinical application of genetic prenatal diagnosis and screening.

Prenat Diagn 2016 Dec 6;36(13):1172-1177. Epub 2016 Dec 6.

Department of Human Genetics, University Hospital Gasthuisberg, University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.4967DOI Listing
December 2016

Prenatal and pre-implantation genetic diagnosis.

Nat Rev Genet 2016 09;17(10):643-56

Centre for Human Genetics, Department of Human Genetics, University of Leuven, 49 Herestraat, Leuven 3000, Belgium.

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http://dx.doi.org/10.1038/nrg.2016.97DOI Listing
September 2016

Maternal vitamin B12 deficiency and abnormal cell-free DNA results in pregnancy.

Prenat Diagn 2016 Aug 17;36(8):790-3. Epub 2016 Jul 17.

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

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http://dx.doi.org/10.1002/pd.4863DOI Listing
August 2016

Copy Number Variation Analysis by Array Analysis of Single Cells Following Whole Genome Amplification.

Methods Mol Biol 2015 ;1347:197-219

Center for Human Genetics, Laboratory for Cytogenetics and Genome Research, KU Leuven, Leuven, 3000, Belgium.

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http://dx.doi.org/10.1007/978-1-4939-2990-0_14DOI Listing
June 2016

Lack of Evidence That Male Fetal Microchimerism is Present in Endometriosis.

Reprod Sci 2015 Sep 5;22(9):1115-21. Epub 2015 Mar 5.

Reproductive Endocrinology & Infertility, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

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http://journals.sagepub.com/doi/10.1177/1933719115574343
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http://dx.doi.org/10.1177/1933719115574343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933168PMC
September 2015

NGS-Logistics: federated analysis of NGS sequence variants across multiple locations.

Genome Med 2014 17;6(9):71. Epub 2014 Sep 17.

KU Leuven, Department of Electrical Engineering (ESAT), STADIUS Center for Dynamical Systems, Signal Processing and Data Analytics, Kasteelpark Arenberg 10, Box 2446, 3001 Leuven, Belgium ; iMinds Medical IT Department, Kasteelpark Arenberg 10, Box 2446, 3001 Leuven, Belgium.

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http://dx.doi.org/10.1186/s13073-014-0071-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198698PMC
October 2014

In vitro screening of embryos by whole-genome sequencing: now, in the future or never?

Hum Reprod 2014 Apr 2;29(4):842-51. Epub 2014 Feb 2.

Department of Electrical Engineering (ESAT), STADIUS Center for Dynamical Systems, Signal Processing and Data Analytics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1093/humrep/deu005DOI Listing
April 2014

Genome-wide copy number profiling of single cells in S-phase reveals DNA-replication domains.

Nucleic Acids Res 2013 Apr 7;41(6):e66. Epub 2013 Jan 7.

Laboratory of Reproductive Genomics, Department of Human Genetics, KU Leuven, Leuven, 3000, Belgium.

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http://dx.doi.org/10.1093/nar/gks1352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3616740PMC
April 2013

Aneuploidy and copy number variation in early human development.

Semin Reprod Med 2012 Aug 21;30(4):302-8. Epub 2012 Jun 21.

Laboratory for Cytogenetics and Genome Research, Center for Human Genetics, KU Leuven, UZ Gasthuisberg, Leuven, Belgium.

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http://dx.doi.org/10.1055/s-0032-1313909DOI Listing
August 2012

New array approaches to explore single cells genomes.

Front Genet 2012 27;3:44. Epub 2012 Mar 27.

Laboratory for Cytogenetics and Genome Research, Center for Human Genetics, Katholieke Universiteit Leuven, Universitair Ziekenhuis Gasthuisberg Leuven, Belgium.

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http://dx.doi.org/10.3389/fgene.2012.00044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3325760PMC
October 2012

Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.

Hum Mol Genet 2012 May 10;21(10):2181-93. Epub 2012 Feb 10.

Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton BN1 9RQ, UK.

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http://dx.doi.org/10.1093/hmg/dds033DOI Listing
May 2012

Microarray analysis of copy number variation in single cells.

Nat Protoc 2012 Jan 19;7(2):281-310. Epub 2012 Jan 19.

Department of Electrical Engineering, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/nprot.2011.426DOI Listing
January 2012

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.

Am J Ophthalmol 2011 Jun 25;151(6):1087-1094.e45. Epub 2011 Feb 25.

Centre for Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ajo.2010.11.025DOI Listing
June 2011

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.

J Med Genet 2011 Feb 10;48(2):98-104. Epub 2010 Nov 10.

Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1136/jmg.2010.079491DOI Listing
February 2011

Piecing together the problems in diagnosing low-level chromosomal mosaicism.

Genome Med 2010 Jul 29;2(7):47. Epub 2010 Jul 29.

Center for Human Genetics, University Hospital Gasthuisberg, Catholic University of Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1186/gm168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923739PMC
July 2010

Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls.

Genet Med 2009 Sep;11(9):646-54

Center for Human Genetics, University Hospital Gasthuisberg, Leuven 3000, Belgium.

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http://dx.doi.org/10.1097/GIM.0b013e3181abc92aDOI Listing
September 2009

Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10).

Eur J Med Genet 2009 Jul-Aug;52(4):260-1. Epub 2009 Jan 14.

Center for Human Genetics, University Hospitals Leuven, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2009.01.001DOI Listing
November 2009

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.

Am J Med Genet C Semin Med Genet 2008 Nov;148C(4):270-4

ARUP Laboratories, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1002/ajmg.c.30188DOI Listing
November 2008

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4.

Eur J Hum Genet 2009 Mar 15;17(3):378-82. Epub 2008 Oct 15.

Center for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2008.180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986164PMC
March 2009

A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.

Eur J Hum Genet 2008 Sep 9;16(9):1050-4. Epub 2008 Apr 9.

Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2008.58DOI Listing
September 2008

Partial duplications of the ATRX gene cause the ATR-X syndrome.

Eur J Hum Genet 2007 Oct 20;15(10):1094-7. Epub 2007 Jun 20.

Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201878DOI Listing
October 2007

Hepatitis B virus replication causes oxidative stress in HepAD38 liver cells.

Mol Cell Biochem 2006 Oct 8;290(1-2):79-85. Epub 2006 Sep 8.

Department of Hepatology, University Hospital Gasthuisberg, Leuven, Belgium.

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http://dx.doi.org/10.1007/s11010-006-9167-xDOI Listing
October 2006

Reply to Hochstenbach et al. 'Molecular karyotyping'.

Eur J Hum Genet 2006 Oct 31;14(10):1063-4. Epub 2006 May 31.

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http://dx.doi.org/10.1038/sj.ejhg.5201663DOI Listing
October 2006

Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.

Eur J Med Genet 2005 Jul-Sep;48(3):319-27

Center for Human Genetics, University Hospital Gasthuisberg, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.018DOI Listing
November 2005

Genomic organization and evolution of the NF1 microdeletion region.

Genomics 2004 Aug;84(2):346-60

Center of Human Genetics, KULeuven, Herestraat 49, 3000 Louvain, Belgium.

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http://dx.doi.org/10.1016/j.ygeno.2004.03.006DOI Listing
August 2004