Publications by authors named "Joris Vermeesch"

100Publications

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 (ISPD) 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, MA, USA.

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

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

Am J Hum Genet 2020 Oct 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 Apr 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

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

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

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

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

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

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

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

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

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the Locus on 5q14.3.

Circ Cardiovasc Genet 2017 Oct;10(5)

From the Department of Genetics (T.G., J.H.C., H.N., C.L.C., T.W., B.E.M.) and Department of Epidemiology and Population Health (T.W.), Albert Einstein College of Medicine, Bronx, NY; Center for Human Genetics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile (G.M.R.); Division of Human Genetics (D.M.M.M., E.E.M., E.Z., B.S.E.), Division of Cardiology (E.G.), and Department of Pediatrics (E.G.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Genetics, Wroclaw Medical University, Poland (A.B.); Clinical Genetics Research Program, Center for Addiction and Mental Health and Department of Psychiatry, University of Toronto (A.S.B., E.W.C.C.); Dalglish Family 22q Clinic, Department of Psychiatry and Toronto General Research Institute, University Health Network, Canada (A.S.B.); Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada (A.S.B.); Center for Human Genetics, University of Leuven (KU Leuven), Belgium (A.S., J.V., K.D.); The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel (D.G.); Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Israel (D.G., M.C., E.M.); Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel (M.C., E.M.); Developmental Imaging and Psychopathology Lab, University of Geneva School of Medicine, Switzerland (M.S., S.E.); Department of Genetic Medicine, UNIGE and iGE3 Institute of Genetics and Genomics of Geneva, University of Geneva Medical Center, Switzerland (S.E.A.); Marcus Autism Center, Children's Healthcare of Atlanta, GA (K.C.); Division of Pediatric Cardiovascular Surgery, Children's Hospital of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Surgery, Medical College of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy (M.C.D., B.D.); Department of Pediatrics, La Sapienza University of Rome, Italy (B.M.); Department of Medical Genetics, Aix Marseille University, APHM, GMGF, Timone Hospital, France (N.P., T.B.); Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles (L.K.-W., C.E.B.); Department of Genetics, Polish Mother's Memorial Hospital, Research Institute, Łódź, Poland (M.P., W.H.); Department of Cardiology and Division of Genetics, Boston Children's Hospital, MA (A.E.R.); M.I.N.D. Institute and Department of Psychiatry and Behavioral Sciences (F.T.) and M.I.N.D. Institute and Department of Biochemistry and Molecular Medicine (T.J.S.), University of California, Davis; Department of Psychiatry and Psychology, University of Maastricht, The Netherlands (E.D.A.V.D., T.A.v.A.); Department of Psychiatry and Behavioral Sciences, and Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY (T.A.v.A., W.R.K.); Department of Human Genetics, Emory University School of Medicine, Atlanta, GA (H.R.J., D.J.C.); Department of Biostatistics and Bioinformatics, Emory University Rollins School of Public Health, Atlanta, GA (H.R.J.); and Human Genetics Center and Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX (A.J.A., L.E.M.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647121PMC
October 2017

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

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

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

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

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

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

Genome-Wide Copy Number Variation Scan Identifies Complement Component C4 as Novel Susceptibility Gene for Crohn's Disease.

Inflamm Bowel Dis 2016 Mar;22(3):505-15

*Department of Clinical and Experimental Medicine, TARGID, KU Leuven, Leuven, Belgium; †Department of Electrical Engineering (ESAT), STADIUS Center for Dynamical Systems, Signal Processing and Data Analytics, KU Leuven, Leuven, Belgium; ‡iMinds Department of Medical Information Technologies, KU Leuven, Leuven, Belgium; §Department of Human Genetics, KU Leuven, Leuven, Belgium; ‖Department of Gastroenterology, Ghent University Hospital, Gent, Belgium; ¶Erasmus Hospital, Free University of Brussels, Department of Gastroenterology, Brussels, Belgium; **Unit of Animal Genomics, Groupe Interdisciplinaire de Genoproteomique Appliquee (GIGA-R) and Faculty of Veterinary Medicine, University of Liege, Liege, Belgium; ††Division of Gastroenterology, Centre Hospitalier Universitaire, Université de Liege, Liège, Belgium; ‡‡Division of Gastroenterology, UZ Leuven, Leuven, Belgium; and §§Department of Electrical Engineering and Computer Science, Bioinformatics-Statistical Genetics, Montefiore Institute, Universty of Liège, Liège, Belgium.

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http://dx.doi.org/10.1097/MIB.0000000000000623DOI Listing
March 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

Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.

Am J Med Genet A 2015 Oct 16;167A(10):2451-8. Epub 2015 Jun 16.

Department of Oral Health Sciences-Orthodontics, KU Leuven and Dentistry, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.37207DOI Listing
October 2015

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

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

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

Prenatal management of the fetus with isolated congenital diaphragmatic hernia in the era of the TOTAL trial.

Semin Fetal Neonatal Med 2014 Dec 11;19(6):338-48. Epub 2014 Nov 11.

TOTAL Consortium (Tracheal Occlusion To Accelerate Lung Growth Trial); BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), IDIBAPS, University of Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Spain.

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http://dx.doi.org/10.1016/j.siny.2014.09.006DOI Listing
December 2014