Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.

Autor: Gui H; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.; Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China., Schriemer D; Department of Neuroscience, section Medical Physiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Cheng WW; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000CA, Rotterdam, The Netherlands., Chauhan RK; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000CA, Rotterdam, The Netherlands., Antiňolo G; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain., Berrios C; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA., Bleda M; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain.; Department of Medicine, School of Clinical Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK., Brooks AS; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000CA, Rotterdam, The Netherlands., Brouwer RW; Erasmus Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands., Burns AJ; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000CA, Rotterdam, The Netherlands.; Stem Cells and Regenerative Medicine, Birth Defects Research Centre, UCL Institute of Child Health, London, UK., Cherny SS; Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China., Dopazo J; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain., Eggen BJ; Department of Neuroscience, section Medical Physiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Griseri P; UOC Genetica Medica, Istituto Gaslini, Genoa, Italy., Jalloh B; Department of Biology, Emory University, Atlanta, USA., Le TL; Laboratory of embryology and genetics of human malformations, INSERM UMR 1163, Institut Imagine, Paris, France.; Department of Genetics, Paris Descartes-Sorbonne Paris Cité University, Hôpital Necker-Enfants Malades (APHP), Paris, France., Lui VC; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China., Luzón-Toro B; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain., Matera I; UOC Genetica Medica, Istituto Gaslini, Genoa, Italy., Ngan ES; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China., Pelet A; Laboratory of embryology and genetics of human malformations, INSERM UMR 1163, Institut Imagine, Paris, France.; Department of Genetics, Paris Descartes-Sorbonne Paris Cité University, Hôpital Necker-Enfants Malades (APHP), Paris, France., Ruiz-Ferrer M; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain., Sham PC; Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China., Shepherd IT; Department of Biology, Emory University, Atlanta, USA., So MT; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China., Sribudiani Y; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000CA, Rotterdam, The Netherlands.; Department of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia., Tang CS; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China., van den Hout MC; Erasmus Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands., van der Linde HC; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000CA, Rotterdam, The Netherlands., van Ham TJ; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000CA, Rotterdam, The Netherlands., van IJcken WF; Erasmus Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands., Verheij JB; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Amiel J; Laboratory of embryology and genetics of human malformations, INSERM UMR 1163, Institut Imagine, Paris, France.; Department of Genetics, Paris Descartes-Sorbonne Paris Cité University, Hôpital Necker-Enfants Malades (APHP), Paris, France., Borrego S; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain., Ceccherini I; UOC Genetica Medica, Istituto Gaslini, Genoa, Italy., Chakravarti A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA., Lyonnet S; Laboratory of embryology and genetics of human malformations, INSERM UMR 1163, Institut Imagine, Paris, France.; Department of Genetics, Paris Descartes-Sorbonne Paris Cité University, Hôpital Necker-Enfants Malades (APHP), Paris, France., Tam PK; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China., Garcia-Barceló MM; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China. mmgarcia@hku.hk., Hofstra RM; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000CA, Rotterdam, The Netherlands. r.hofstra@erasmusmc.nl.; Stem Cells and Regenerative Medicine, Birth Defects Research Centre, UCL Institute of Child Health, London, UK. r.hofstra@erasmusmc.nl.

Publikováno v: Genome biology [Genome Biol] 2017 Mar 08; Vol. 18 (1), pp. 48. Date of Electronic Publication: 2017 Mar 08.

Genetic variants in RBFOX3 are associated with sleep latency.

Autor: Amin N; Unit of Genetic Epidemiology, Department of Epidemiology, Erasmus University Medical Centre, Rotterdam, The Netherlands., Allebrandt KV; Institute of Medical Psychology, Ludwig-Maximilians-University, Munich, Germany., van der Spek A; Unit of Genetic Epidemiology, Department of Epidemiology, Erasmus University Medical Centre, Rotterdam, The Netherlands., Müller-Myhsok B; Max-Planck-Institute of Psychiatry, Munich, Germany., Hek K; Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands., Teder-Laving M; Estonian Genome Center, University of Tartu and Estonian Biocenter, Tartu, Estonia., Hayward C; Medical Research Council, Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, Scotland., Esko T; Estonian Genome Center, University of Tartu and Estonian Biocenter, Tartu, Estonia., van Mill JG; Department of Psychiatry, VU University Medical Center Amsterdam, Amsterdam, The Netherlands., Mbarek H; Department of Biological Psychology, VU University, Amsterdam, The Netherlands., Watson NF; Department of Neurology, University of Washington, Seattle, WA, USA.; University of Washington Medicine Sleep Center, Seattle, WA, USA., Melville SA; Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA., Del Greco FM; Center for Biomedicine, European Academy of Bolzano, Bolzano, Italy - Affiliated Institute of the University of Lübeck, Lübeck, Germany., Byrne EM; Queensland Brain Institute, University of Queensland, Brisbane, QLD, Australia.; Queensland Institute of Medical Research, Brisbane, QLD, Australia., Oole E; Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands., Kolcic I; School of Medicine, University of Split, Split, Croatia., Chen TH; VA Boston Healthcare System, Boston University, Boston, MA, USA., Evans DS; California Pacific Medical Center Research Institute, San Francisco, CA, USA., Coresh J; Departments of Epidemiology, Biostatistics, and Medicine, Johns Hopkins University, Baltimore, MD, USA., Vogelzangs N; Department of Psychiatry, VU University Medical Center Amsterdam, Amsterdam, The Netherlands., Karjalainen J; Department of Genetics, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands., Willemsen G; Department of Biological Psychology, VU University, Amsterdam, The Netherlands., Gharib SA; University of Washington Medicine Sleep Center, Seattle, WA, USA.; Department of Medicine, Division of Pulmonary & Critical Care Medicine, University of Washington, Seattle, WA, USA., Zgaga L; Medical Research Council, Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, Scotland., Mihailov E; Estonian Genome Center, University of Tartu and Estonian Biocenter, Tartu, Estonia., Stone KL; California Pacific Medical Center Research Institute, San Francisco, CA, USA., Campbell H; Centre for Global Health Research, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, Scotland., Brouwer RW; Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands., Demirkan A; Unit of Genetic Epidemiology, Department of Epidemiology, Erasmus University Medical Centre, Rotterdam, The Netherlands., Isaacs A; Unit of Genetic Epidemiology, Department of Epidemiology, Erasmus University Medical Centre, Rotterdam, The Netherlands., Dogas Z; Department of Neuroscience and Sleep Medicine Centre, University of Split School of Medicine, Split, Croatia., Marciante KD; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA., Campbell S; Medical Research Council, Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, Scotland., Borovecki F; Centre for Functional Genomics and Department of Neurology, Faculty of Medicine, University of Zagreb, Zagreb, Croatia., Luik AI; Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands., Li M; Department of Epidemiology, Johns Hopkins University, Baltimore, MD, USA., Hottenga JJ; Department of Biological Psychology, VU University, Amsterdam, The Netherlands., Huffman JE; Medical Research Council, Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, Scotland., van den Hout MC; Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands., Cummings SR; California Pacific Medical Center Research Institute, San Francisco, CA, USA., Aulchenko YS; Unit of Genetic Epidemiology, Department of Epidemiology, Erasmus University Medical Centre, Rotterdam, The Netherlands., Gehrman PR; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA, USA., Uitterlinden AG; Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.; Netherlands Consortium for Healthy Ageing and National Genomics Initiative, Leiden, The Netherlands., Wichmann HE; Institute of Epidemiology I, Helmholtz Zentrum Munich-German Research Center for Environmental Health, Neuherberg, Germany.; Institute of Medical Informatics, Biometry and Epidemiology, Ludwig-Maximilians-University and Klinikum Grosshadern, Munich, Germany.; Institute of Medical Statistics and Epidemiology, Technical University Munich, Munich, Germany., Müller-Nurasyid M; Institute of Epidemiology I, Helmholtz Zentrum Munich-German Research Center for Environmental Health, Neuherberg, Germany.; Department of Medicine I, University Hospital Grosshadern, Ludwig-Maximilians-Universität, Munich, Germany.; Institute of Medical Informatics, Biometry and Epidemiology, Chair of Genetic Epidemiology, Ludwig-Maximilians-Universität, Munich, Germany.; DZHK (German Centre for Cardiovascular Research), Partner Site Munich Heart Alliance, Munich, Germany., Fehrmann RS; Department of Genetics, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands., Montgomery GW; Queensland Institute of Medical Research, Brisbane, QLD, Australia., Hofman A; Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Kao WH; Department of Epidemiology, Johns Hopkins University, Baltimore, MD, USA., Oostra BA; Unit of Genetic Epidemiology, Department of Epidemiology, Erasmus University Medical Centre, Rotterdam, The Netherlands., Wright AF; Medical Research Council, Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, Scotland., Vink JM; Department of Biological Psychology, VU University, Amsterdam, The Netherlands., Wilson JF; Medical Research Council, Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, Scotland.; Centre for Global Health Research, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, Scotland., Pramstaller PP; Center for Biomedicine, European Academy of Bolzano, Bolzano, Italy - Affiliated Institute of the University of Lübeck, Lübeck, Germany.; Department of Neurology, General Central Hospital, Bolzano, Italy.; Department of Neurology, University of Lübeck, Lübeck, Germany., Hicks AA; Center for Biomedicine, European Academy of Bolzano, Bolzano, Italy - Affiliated Institute of the University of Lübeck, Lübeck, Germany., Polasek O; School of Medicine, University of Split, Split, Croatia.; Centre for Global Health, University of Split School of Medicine, Split, Croatia., Punjabi NM; Department of Pulmonary Medicine and Epidemiology, Johns Hopkins University, Baltimore, MD, USA., Redline S; Department of Medicine, Brigham and Women's Hospital and Beth Deaconess Medical Center, Harvard Medical School, Boston, MA, USA., Psaty BM; Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology and Health Services, University of Washington, Seattle, WA, USA.; Group Health Research Institute, Group Health Cooperative, Seattle, WA, USA., Heath AC; Department of Psychiatry, Washington University, St Louis, MO, USA., Merrow M; Institute of Medical Psychology, Ludwig-Maximilians-University, Munich, Germany., Tranah GJ; California Pacific Medical Center Research Institute, San Francisco, CA, USA., Gottlieb DJ; Department of Medicine, Brigham and Women's Hospital and Beth Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.; VA Boston Healthcare System, Boston, MA, USA., Boomsma DI; Department of Biological Psychology, VU University, Amsterdam, The Netherlands., Martin NG; Queensland Institute of Medical Research, Brisbane, QLD, Australia., Rudan I; Centre for Global Health Research, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, Scotland., Tiemeier H; Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Child and Adolescent Psychiatry, Erasmus MC, Rotterdam, The Netherlands., van IJcken WF; Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands., Penninx BW; Department of Psychiatry, VU University Medical Center Amsterdam, Amsterdam, The Netherlands., Metspalu A; Estonian Genome Center, University of Tartu and Estonian Biocenter, Tartu, Estonia., Meitinger T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Techinsche Universität München, München, Germany., Franke L; Department of Genetics, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands., Roenneberg T; Institute of Medical Psychology, Ludwig-Maximilians-University, Munich, Germany., van Duijn CM; Unit of Genetic Epidemiology, Department of Epidemiology, Erasmus University Medical Centre, Rotterdam, The Netherlands.; Netherlands Consortium for Healthy Ageing and National Genomics Initiative, Leiden, The Netherlands.; Centre for Medical Systems Biology, Leiden, The Netherlands.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Oct; Vol. 24 (10), pp. 1488-95. Date of Electronic Publication: 2016 May 04.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Autor: Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RL, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Sep; Vol. 23 (9), pp. 1270.

The dystrophin gene and cognitive function in the general population.

Autor: Vojinovic D; 1] Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands [2] Clinic for Neurology and Psychiatry for Children and Youth, School of Medicine, University of Belgrade, Belgrade, Serbia., Adams HH; 1] Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands [2] Department of Radiology, Erasmus University Medical Center, Rotterdam, The Netherlands., van der Lee SJ; Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands., Ibrahim-Verbaas CA; Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands., Brouwer R; Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands., van den Hout MC; Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands., Oole E; Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands., van Rooij J; Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands., Uitterlinden A; 1] Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands [2] Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands [3] Netherlands Consortium on Health Aging and National Genomics Initiative, Leiden, The Netherlands., Hofman A; Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands., van IJcken WF; Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands., Aartsma-Rus A; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., van Ommen GB; 1] Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands [2] Center of Medical Systems Biology, Leiden, The Netherlands., Ikram MA; 1] Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands [2] Department of Radiology, Erasmus University Medical Center, Rotterdam, The Netherlands [3] Department of Neurology, Erasmus University Medical Center, Rotterdam, The Netherlands., van Duijn CM; 1] Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands [2] Netherlands Consortium on Health Aging and National Genomics Initiative, Leiden, The Netherlands [3] Center of Medical Systems Biology, Leiden, The Netherlands., Amin N; Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Jun; Vol. 23 (6), pp. 837-43. Date of Electronic Publication: 2014 Sep 17.

Deciphering the RNA landscape by RNAome sequencing.

Autor: Derks KW; a Department of Genetics; Netherlands Toxicogenomics Center; Erasmus University Medical Center ; Rotterdam , The Netherlands., Misovic B, van den Hout MC, Kockx CE, Gomez CP, Brouwer RW, Vrieling H, Hoeijmakers JH, van IJcken WF, Pothof J

Publikováno v: RNA biology [RNA Biol] 2015; Vol. 12 (1), pp. 30-42.