Koen Devriendt

Koen Devriendt

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Koen Devriendt

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Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives.

Am J Med Genet A 2018 11 22;176(11):2375-2381. Epub 2018 Oct 22.

Department of Otorhinolaryngology, Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.40348
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http://dx.doi.org/10.1002/ajmg.a.40348DOI Listing
November 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

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

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

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

Clinically relevant discordances identified after tertiary reassessment of fetuses with isolated congenital diaphragmatic hernia.

Prenat Diagn 2017 Sep 25;37(9):883-888. Epub 2017 Jul 25.

Division of Woman and Child, Department of Obstetrics and Gynaecology, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.5060DOI Listing
September 2017

mutation in three siblings with familial hereditary spastic paraplegia.

Cold Spring Harb Mol Case Stud 2017 07 5;3(4). Epub 2017 Jul 5.

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

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http://dx.doi.org/10.1101/mcs.a001537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495031PMC
July 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

Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene.

Eur J Med Genet 2016 Oct 12;59(10):499-501. Epub 2016 Sep 12.

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

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http://dx.doi.org/10.1016/j.ejmg.2016.09.005DOI Listing
October 2016

Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome.

Am J Med Genet A 2016 Mar 24;170(3):801-3. Epub 2015 Dec 24.

Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.37499DOI Listing
March 2016

Congenital sternoclavicular dermoid sinus.

Int J Pediatr Otorhinolaryngol 2016 Feb 30;81:65-7. Epub 2015 Dec 30.

Otorhinolaryngology, Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2015.12.011DOI Listing
February 2016

A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.

EMBO Mol Med 2015 Apr;7(4):423-37

VIB Center for the Biology of Disease, VIB, Leuven, Belgium Center for Human Genetics, University of Leuven School of Medicine and University Hospitals Leuven, Leuven, Belgium Program in Molecular and Developmental Genetics, Doctoral School of Biomedical Sciences, University of Leuven, Leuven, Belgium

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http://dx.doi.org/10.15252/emmm.201404576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403044PMC
April 2015

A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism.

Am J Med Genet A 2014 Dec 24;164A(12):3035-41. Epub 2014 Sep 24.

Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium; Leuven Autism Research (LAuRes), KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.36752DOI Listing
December 2014

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

Association of CDH11 with non-syndromic ASD.

Am J Med Genet B Neuropsychiatr Genet 2014 Jul 19;165B(5):391-8. Epub 2014 May 19.

Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium; Leuven Autism Research (LAuRes), Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.b.32243DOI Listing
July 2014

Presenting symptoms in adults with the 22q11 deletion syndrome.

Eur J Med Genet 2014 Mar 24;57(4):157-62. Epub 2014 Feb 24.

Center for Human Genetics, KU Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2014.02.008DOI Listing
March 2014

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

Eur J Hum Genet 2013 Dec 1;21(12):1349-55. Epub 2013 May 1.

1] Department of cardiovascular sciences, Centre for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium [2] Department of Pediatrics, UZ Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2013.86DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831085PMC
December 2013

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

Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".

Eur J Med Genet 2011 May-Jun;54(3):236-40. Epub 2011 Jan 22.

Department of Paediatrics, University Hospitals Leuven, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2011.01.003DOI Listing
September 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

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

A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system.

Clin Chim Acta 2010 Dec 31;411(23-24):2033-9. Epub 2010 Aug 31.

Center for Molecular and Vascular Biology, University of Leuven, Leuven, 3000, Belgium.

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http://dx.doi.org/10.1016/j.cca.2010.08.034DOI Listing
December 2010

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).

Eur J Hum Genet 2010 Sep 3;18(9). Epub 2010 Feb 3.

Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany.

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http://dx.doi.org/10.1038/ejhg.2010.5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987430PMC
September 2010

Fetal surgery is a clinical reality.

Semin Fetal Neonatal Med 2010 Feb 13;15(1):58-67. Epub 2009 Nov 13.

Division Woman and Child, University Hospital Gasthuisberg, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.siny.2009.10.002DOI Listing
February 2010

Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome.

Am J Med Genet A 2010 Feb;152A(2):319-26

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

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http://dx.doi.org/10.1002/ajmg.a.33202DOI Listing
February 2010

Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.

Eur J Med Genet 2009 Mar-Jun;52(2-3):145-7. Epub 2009 Feb 21.

Centre for Human Genetics, UZ Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2009.02.002DOI Listing
September 2009

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

Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.

Eur J Hum Genet 2008 Oct 16;16(10):1187-92. Epub 2008 Apr 16.

Department for Human Genetics, Laboratory for Biochemical Neuroendocrinology, University of Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2008.71DOI Listing
October 2008

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

A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications.

Eur J Med Genet 2008 May-Jun;51(3):219-25. Epub 2008 Jan 9.

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

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http://dx.doi.org/10.1016/j.ejmg.2007.12.009DOI Listing
August 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

Novel TBX5 mutations in patients with Holt-Oram syndrome.

Clin Orthop Relat Res 2007 Sep;462:20-6

Department of Orthopaedics, University Hospital Pellenberg, Pellenberg, Belgium.

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http://dx.doi.org/10.1097/BLO.0b013e3181123ffeDOI Listing
September 2007

A microduplication of CBP in a patient with mental retardation and a congenital heart defect.

Am J Med Genet A 2007 Sep;143A(18):2160-4

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

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http://dx.doi.org/10.1002/ajmg.a.31893DOI Listing
September 2007

Left-ventricular non-compaction in a patient with monosomy 1p36.

Eur J Med Genet 2007 May-Jun;50(3):233-6. Epub 2007 Jan 27.

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

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http://dx.doi.org/10.1016/j.ejmg.2007.01.002DOI Listing
July 2007

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

Eur J Pediatr 2007 Jul 20;166(7):637-43. Epub 2007 Mar 20.

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

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http://dx.doi.org/10.1007/s00431-007-0463-6DOI Listing
July 2007

The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.

J Child Orthop 2007 Jul 10;1(2):143-50. Epub 2007 May 10.

Division of Orthopaedics, Department of Musculoskeletal Science, University Hospital Pellenberg, Weligerveld 1, 3212, Pellenberg, Belgium,

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http://dx.doi.org/10.1007/s11832-007-0022-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2656707PMC
July 2007

Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.

Eur J Hum Genet 2007 Apr 7;15(4):422-31. Epub 2007 Feb 7.

Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, Flanders Interuniversity Institute for Biotechnology, Catholic University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201785DOI Listing
April 2007

Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome).

Dev Med Child Neurol 2007 Mar;49(3):210-3

Faculty of Kinesiology and Rehabilitation Sciences, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1111/j.1469-8749.2007.00210.xDOI Listing
March 2007