Publications by authors named "Joris R Vermeesch"

100Publications

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.

Am J Hum Genet 2020 10 9;107(4):753-762. Epub 2020 Sep 9.

Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; Laboratory for the Genetics of Cognition, Department of Human Genetics, KU Leuven, Herestraat 49, 3000 Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536573PMC
October 2020

Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly.

Eur J Med Genet 2020 Nov 3;63(11):104009. Epub 2020 Aug 3.

Center for Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104009DOI Listing
November 2020

Corrigendum to "FANCA knockout in human embryonic stem cells causes a severe growth disadvantage" [Stem Cell Res.13/2 (2014) 240-50].

Stem Cell Res 2020 04 18;44:101763. Epub 2020 Mar 18.

KU Leuven Stem Cell Institute, Department of Development and Regeneration, Cluster Stem Cell Biology and Embryology, Herestraat 49, Onderwijs en Navorsing 4, Box 804, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.scr.2020.101763DOI Listing
April 2020

Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation.

Acta Obstet Gynecol Scand 2020 06 3;99(6):722-730. Epub 2020 Apr 3.

Department of Clinical Genetics, Aarhus University/Aarhus University Hospital, Aarhus, Denmark.

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http://dx.doi.org/10.1111/aogs.13841DOI Listing
June 2020

LEF1 haploinsufficiency causes ectodermal dysplasia.

Clin Genet 2020 04 17;97(4):595-600. Epub 2020 Feb 17.

Department of Paediatric Dentistry, Rare Oral and Dental Competence Center, CHU Toulouse, Paul Sabatier University, Toulouse, France.

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http://dx.doi.org/10.1111/cge.13714DOI Listing
April 2020

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Authors:
Isabelle Cleynen Worrawat Engchuan Matthew S Hestand Tracy Heung Aaron M Holleman H Richard Johnston Thomas Monfeuga Donna M McDonald-McGinn Raquel E Gur Bernice E Morrow Ann Swillen Jacob A S Vorstman Carrie E Bearden Eva W C Chow Marianne van den Bree Beverly S Emanuel Joris R Vermeesch Stephen T Warren Michael J Owen Pankaj Chopra David J Cutler Richard Duncan Alex V Kotlar Jennifer G Mulle Anna J Voss Michael E Zwick Alexander Diacou Aaron Golden Tingwei Guo Jhih-Rong Lin Tao Wang Zhengdong Zhang Yingjie Zhao Christian Marshall Daniele Merico Andrea Jin Brenna Lilley Harold I Salmons Oanh Tran Peter Holmans Antonio Pardinas James T R Walters Wolfram Demaerel Erik Boot Nancy J Butcher Gregory A Costain Chelsea Lowther Rens Evers Therese A M J van Amelsvoort Esther van Duin Claudia Vingerhoets Jeroen Breckpot Koen Devriendt Elfi Vergaelen Annick Vogels T Blaine Crowley Daniel E McGinn Edward M Moss Robert J Sharkus Marta Unolt Elaine H Zackai Monica E Calkins Robert S Gallagher Ruben C Gur Sunny X Tang Rosemarie Fritsch Claudia Ornstein Gabriela M Repetto Elemi Breetvelt Sasja N Duijff Ania Fiksinski Hayley Moss Maria Niarchou Kieran C Murphy Sarah E Prasad Eileen M Daly Maria Gudbrandsen Clodagh M Murphy Declan G Murphy Antonio Buzzanca Fabio Di Fabio Maria C Digilio Maria Pontillo Bruno Marino Stefano Vicari Karlene Coleman Joseph F Cubells Opal Y Ousley Miri Carmel Doron Gothelf Ehud Mekori-Domachevsky Elena Michaelovsky Ronnie Weinberger Abraham Weizman Leila Kushan Maria Jalbrzikowski Marco Armando Stéphan Eliez Corrado Sandini Maude Schneider Frédérique Sloan Béna Kevin M Antshel Wanda Fremont Wendy R Kates Raoul Belzeaux Tiffany Busa Nicole Philip Linda E Campbell Kathryn L McCabe Stephen R Hooper Kelly Schoch Vandana Shashi Tony J Simon Flora Tassone Celso Arango David Fraguas Sixto García-Miñaúr Jaume Morey-Canyelles Jordi Rosell Damià H Suñer Jasna Raventos-Simic Michael P Epstein Nigel M Williams Anne S Bassett

Mol Psychiatry 2020 Feb 3. Epub 2020 Feb 3.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/s41380-020-0654-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396297PMC
February 2020

The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium.

Clin Chem Lab Med 2019 Oct;57(11):e294-e297

Clinical Department of Laboratory Medicine, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium, Phone: 003216347015, Fax: 003216347931.

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http://dx.doi.org/10.1515/cclm-2019-0231DOI Listing
October 2019

Preeclampsia is Associated with Sex-Specific Transcriptional and Proteomic Changes in Fetal Erythroid Cells.

Int J Mol Sci 2019 Apr 25;20(8). Epub 2019 Apr 25.

Lund University, Skåne University Hospital, Obstetrics and Gynecology, Department of Clinical Sciences Lund, Klinikgatan 28, 22184 Lund, Sweden.

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https://www.mdpi.com/1422-0067/20/8/2038
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http://dx.doi.org/10.3390/ijms20082038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514549PMC
April 2019

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.

BMC Med Genomics 2018 Dec 19;11(1):123. Epub 2018 Dec 19.

Department of Human Genetics and Center for Human Genetics, Laboratory for Cytogenetics and Genome Research, University Hospitals Leuven, KU Leuven, O&N I Herestraat 49 - box 606, 3000, Leuven, Belgium.

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http://dx.doi.org/10.1186/s12920-018-0446-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299999PMC
December 2018

Molecular genetics of 22q11.2 deletion syndrome.

Am J Med Genet A 2018 10;176(10):2070-2081

Institute of Child Health, University College London, London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.40504
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http://dx.doi.org/10.1002/ajmg.a.40504DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214629PMC
October 2018

Response to a comment on "Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing".

Prenat Diagn 2018 08 19;38(9):722-723. Epub 2018 Jul 19.

Centre for Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.5285DOI Listing
August 2018

Novel CASK mutations in cases with syndromic microcephaly.

Hum Mutat 2018 07 11;39(7):993-1001. Epub 2018 May 11.

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

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http://doi.wiley.com/10.1002/humu.23536
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http://dx.doi.org/10.1002/humu.23536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995665PMC
July 2018

Maternal liver transplant: Another cause of discordant fetal sex determination using cell-free DNA.

Prenat Diagn 2018 01 4;38(2):148-150. Epub 2018 Jan 4.

Laboratory for Cytogenetics and Genome Research, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.5194DOI Listing
January 2018

Novel Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.

Mol Syndromol 2017 Nov 27;8(6):282-293. Epub 2017 Sep 27.

Laboratories for Genetics of Cognition, Center for Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1159/000479666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701267PMC
November 2017

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

Am J Psychiatry 2017 11 28;174(11):1054-1063. Epub 2017 Jul 28.

From the Dalglish Family 22q Clinic, Department of Psychiatry, University Health Network, Toronto; the Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto; the Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto; the Department of Psychiatry, University of Toronto, Toronto; the Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; the Centre for Applied Genomics and Program in Genetics and Genome Biology, the Hospital for Sick Children, Toronto; the Medical Genetics Residency Training Program, University of Toronto, Toronto; the Department of Psychiatry and Psychology, Maastricht University, Maastricht, the Netherlands; the Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; the Departments of Pediatrics and of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia; the Centre for Human Genetics, University of Leuven (KU Leuven), Leuven, Belgium; the Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales; the Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin; the Department of Child and Adolescent Psychiatry, King's College London; the Department of Psychiatry, Tel Aviv University, Tel Aviv, Israel; the Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles; Office Médico-Pédagogique Research Unit, Department of Psychiatry, University of Geneva School of Medicine, Geneva; the Department of Psychiatry and Behavioral Sciences, Upstate Medical University, State University of New York, Syracuse; Département de Génétique Médicale, Centre Hospitalier Universitaire de Marseille - Hôpital de la Timone, Marseilles, France; the Department of Pediatrics, Duke University, Durham, N.C.; the Department of Psychology, University of Newcastle, Newcastle, Australia; the Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands; the Department of Human Genetics, Emory University, Atlanta; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile; the Department of Psychiatry and Behavioral Sciences, UC Davis, Sacramento, Calif.; Molecular Genetics and McLaughlin Centre, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto; the Department of Genetics, Albert Einstein College of Medicine, Bronx, N.Y.; and Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto.

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http://dx.doi.org/10.1176/appi.ajp.2017.16121417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665703PMC
November 2017

Clinical characteristics of patients with low functional IL-6 production upon TLR/IL-1R stimulation.

J Allergy Clin Immunol 2018 02 5;141(2):768-770. Epub 2017 May 5.

Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium; Department of Laboratory Medicine, University Hospitals Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.04.017DOI Listing
February 2018

How can zygotes segregate entire parental genomes into distinct blastomeres? The zygote metaphase revisited.

Bioessays 2017 04 1;39(4). Epub 2017 Mar 1.

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

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http://dx.doi.org/10.1002/bies.201600226DOI Listing
April 2017

Mutational Processes Shaping the Genome in Early Human Embryos.

Cell 2017 02;168(5):751-753

Department of Human Genetics, University of Leuven, KU Leuven, Herestraat 49, 3000 Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.02.008DOI Listing
February 2017

Detecting mosaicism in trophectoderm biopsies.

Hum Reprod 2017 03;32(3):712-713

GENOMA-Molecular Genetics Laboratories, Via di Castel Giubileo, 1100138Rome, Italy.

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http://dx.doi.org/10.1093/humrep/dew346DOI Listing
March 2017

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.

Hum Mutat 2017 03 17;38(3):324-331. Epub 2017 Jan 17.

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

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http://dx.doi.org/10.1002/humu.23150DOI Listing
March 2017

Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents.

Cytogenet Genome Res 2016 8;148(1):1-5. Epub 2016 Apr 8.

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

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http://dx.doi.org/10.1159/000445089DOI Listing
January 2017

Polymerase specific error rates and profiles identified by single molecule sequencing.

Mutat Res 2016 Feb-Mar;784-785:39-45. Epub 2016 Jan 19.

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

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http://dx.doi.org/10.1016/j.mrfmmm.2016.01.003DOI Listing
June 2016

Pulmonary transcriptome analysis in the surgically induced rabbit model of diaphragmatic hernia treated with fetal tracheal occlusion.

Dis Model Mech 2016 Feb 7;9(2):221-8. Epub 2016 Jan 7.

Department of Development and Regeneration, Organ System Cluster, Faculty of Medicine, KU Leuven, 3000 Leuven, Belgium Clinical Department of Obstetrics and Gynaecology, Division Woman and Child, University Hospitals KU Leuven, 3000 Leuven, Belgium

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http://dx.doi.org/10.1242/dmm.021626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770142PMC
February 2016

GBSX: a toolkit for experimental design and demultiplexing genotyping by sequencing experiments.

BMC Bioinformatics 2015 Mar 6;16:73. Epub 2015 Mar 6.

Center for Human Genetics, KU Leuven, Herestraat 49, Leuven, 3000, Belgium.

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http://dx.doi.org/10.1186/s12859-015-0514-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359581PMC
March 2015

22q11.2 deletion syndrome.

Nat Rev Dis Primers 2015 11 19;1:15071. Epub 2015 Nov 19.

The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, and Clinical Genetics Research Program, Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada.

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http://www.nature.com/articles/nrdp201571
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http://dx.doi.org/10.1038/nrdp.2015.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900471PMC
November 2015

DNA from nails for genetic analyses in large-scale epidemiologic studies.

Cancer Epidemiol Biomarkers Prev 2014 Dec;23(12):2703-12

Department of Epidemiology, School for Oncology and Developmental Biology (GROW), Maastricht University, Maastricht, the Netherlands.

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http://dx.doi.org/10.1158/1055-9965.EPI-14-0552DOI Listing
December 2014

FANCA knockout in human embryonic stem cells causes a severe growth disadvantage.

Stem Cell Res 2014 Sep 27;13(2):240-50. Epub 2014 Jul 27.

KU Leuven Stem Cell Institute, Department of Development and Regeneration, Cluster Stem Cell Biology and Embryology, Herestraat 49, Onderwijs en Navorsing 4, Box 804, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.scr.2014.07.005DOI Listing
September 2014

Single cell segmental aneuploidy detection is compromised by S phase.

Mol Cytogenet 2014 11;7:46. Epub 2014 Jul 11.

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

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http://dx.doi.org/10.1186/1755-8166-7-46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4114140PMC
July 2014

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.

Eur J Hum Genet 2015 Apr 16;23(4):551-4. Epub 2014 Jul 16.

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

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http://dx.doi.org/10.1038/ejhg.2014.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666577PMC
April 2015

Large-scale analysis of tandem repeat variability in the human genome.

Nucleic Acids Res 2014 May 20;42(9):5728-41. Epub 2014 Mar 20.

Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium Human Genome Laboratory, Department of Human Genetics, KU Leuven, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1093/nar/gku212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027155PMC
May 2014

LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition.

Dis Model Mech 2014 May 13;7(5):535-45. Epub 2014 Mar 13.

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

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http://dx.doi.org/10.1242/dmm.014464DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007405PMC
May 2014

eXtasy: variant prioritization by genomic data fusion.

Nat Methods 2013 Nov 29;10(11):1083-4. Epub 2013 Sep 29.

1] Department of Electrical Engineering, STADIUS Center for Dynamical Systems, Signal Processing and Data Analytics, KU Leuven, Leuven, Belgium. [2] iMinds Future Health Department, Leuven, Belgium. [3].

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http://www.nature.com/articles/nmeth.2656
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http://dx.doi.org/10.1038/nmeth.2656DOI Listing
November 2013

Preimplantation genetic diagnosis guided by single-cell genomics.

Genome Med 2013 19;5(8):71. Epub 2013 Aug 19.

Laboratory of Reproductive Genomics, Department of Human Genetics, KU Leuven, Leuven 3000, Belgium ; Single-cell Genomics Centre, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK.

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http://dx.doi.org/10.1186/gm475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3979122PMC
June 2014

Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.

Genome Res 2013 Mar 3;23(3):411-8. Epub 2012 Dec 3.

Laboratory for Molecular Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://genome.cshlp.org/cgi/doi/10.1101/gr.145631.112
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http://dx.doi.org/10.1101/gr.145631.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3589530PMC
March 2013

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease.

Genome Med 2012 26;4(9):73. Epub 2012 Sep 26.

KU Leuven, Department of Electrical Engineering-ESAT, SCD-SISTA, Kasteelpark Arenberg 10, B-3001, Leuven, Belgium ; IBBT Future Health Department, Kasteelpark Arenberg 10, B-3001, Leuven, Belgium.

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http://dx.doi.org/10.1186/gm374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580443PMC
August 2014

Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2.

Am J Med Genet A 2012 Jun 11;158A(6):1381-7. Epub 2012 May 11.

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

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http://dx.doi.org/10.1002/ajmg.a.35353DOI Listing
June 2012

Genomic microarrays: a technology overview.

Prenat Diagn 2012 Apr;32(4):336-43

Laboratory for Cytogenetics and Genome Research, Centre for Human Genetics, University Hospital Leuven, K.U. Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.2933DOI Listing
April 2012

A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome.

Am J Med Genet A 2012 May 21;158A(5):996-1004. Epub 2012 Mar 21.

Center for Human Genetics, KU Leuven, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.35299
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http://dx.doi.org/10.1002/ajmg.a.35299DOI Listing
May 2012

Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics.

Hum Mutat 2012 Jun;33(6):906-15

Laboratory for Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.22076DOI Listing
June 2012

Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.

Am J Med Genet A 2012 Mar 8;158A(3):574-80. Epub 2012 Feb 8.

Center for Human Genetics, University Hospitals Leuven, Herestraat, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.35217DOI Listing
March 2012

Array-based approaches in prenatal diagnosis.

Methods Mol Biol 2012 ;838:151-71

Centre for Human Genetics, K.U. Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1007/978-1-61779-507-7_7DOI Listing
April 2012

Single-cell copy number variation detection.

Genome Biol 2011 Aug 29;12(8):R80. Epub 2011 Aug 29.

Department of Electrical Engineering, Esat-SCD, Katholieke Universiteit Leuven, Kasteelpark Arenberg 10, Leuven 3001, Belgium.

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http://dx.doi.org/10.1186/gb-2011-12-8-r80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245619PMC
August 2011

Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances.

J Appl Genet 2011 May 25;52(2):193-200. Epub 2011 Mar 25.

Laboratório de Citogenética e Genómica, Centro de Neurociências e Biologia Celular, Faculty of Medicine, University of Coimbra, 3000-354, Coimbra, Portugal.

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http://dx.doi.org/10.1007/s13353-011-0035-3DOI Listing
May 2011

Recent developments in the genetic factors underlying congenital diaphragmatic hernia.

Fetal Diagn Ther 2011 11;29(1):25-39. Epub 2010 Dec 11.

Centre for Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1159/000322422DOI Listing
June 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

Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome.

Eur J Med Genet 2010 Nov-Dec;53(6):408-10. Epub 2010 Sep 20.

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

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http://dx.doi.org/10.1016/j.ejmg.2010.08.004DOI Listing
June 2011

Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

Eur J Med Genet 2010 May-Jun;53(3):136-40. Epub 2010 Mar 1.

Centre for Human Genetics, University Hospital, K.U. Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2010.02.004DOI Listing
October 2010