Resultats de la cerca - Joris A. Veltman

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  1. 1
    The role of de novo mutations in adult-onset neurodegenerative disorders

    The role of de novo mutations in adult-onset neurodegenerative disorders per Gaël Nicolas, Joris A. Veltman

    Publicat 2018
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  2. 2
    Novel bioinformatic developments for exome sequencing

    Novel bioinformatic developments for exome sequencing per Stefan H. Lelieveld, Joris A. Veltman, Christian Gilissen

    Publicat 2016
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  3. 3
    New insights into the generation and role of de novo mutations in health and disease

    New insights into the generation and role of de novo mutations in health and disease per Rocío Acuña‐Hidalgo, Joris A. Veltman, Alexander Hoischen

    Publicat 2016
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  4. 4
    De Novo Mutations Reflect Development and Aging of the Human Germline

    De Novo Mutations Reflect Development and Aging of the Human Germline per Jakob M. Goldmann, Joris A. Veltman, Christian Gilissen

    Publicat 2019
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  5. 5
    Disease gene identification strategies for exome sequencing

    Disease gene identification strategies for exome sequencing per Christian Gilissen, Alexander Hoischen, Han G. Brunner, Joris A. Veltman

    Publicat 2012
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  6. 6
    Unlocking Mendelian disease using exome sequencing

    Unlocking Mendelian disease using exome sequencing per Christian Gilissen, Alexander Hoischen, Han G. Brunner, Joris A. Veltman

    Publicat 2011
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  7. 7
    Pathogenic or not? Assessing the clinical relevance of copy number variants

    Pathogenic or not? Assessing the clinical relevance of copy number variants per JY Hehir‐Kwa, Rolph Pfundt, Joris A. Veltman, Nicole de Leeuw

    Publicat 2013
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  8. 8
    Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics

    Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics per Laurens Wiel, Hanka Venselaar, Joris A. Veltman, Gert Vriend, Christian Gilissen

    Publicat 2017
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  9. 9
    Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions

    Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions per Stefan H. Lelieveld, Malte Spielmann, Stefan Mundlos, Joris A. Veltman, Christian Gilissen

    Publicat 2015
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  10. 10
    Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

    Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis per Lisenka E.L.M. Vissers, Bert B.A. de Vries, Joris A. Veltman

    Publicat 2009
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  11. 11
    MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

    MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains per Laurens Wiel, Coos Baakman, Daan Gilissen, Joris A. Veltman, Gerrit Vriend, Christian Gilissen

    Publicat 2019
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  12. 12
    MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

    MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains per Laurens Wiel, Coos Baakman, Daan Gilissen, Joris A. Veltman, Gerrit Vriend, Christian Gilissen

    Publicat 2019
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  13. 13
    Front Cover, Volume 40, Issue 8

    Front Cover, Volume 40, Issue 8 per Laurens Wiel, Coos Baakman, Daan Gilissen, Joris A. Veltman, Gerrit Vriend, Christian Gilissen

    Publicat 2019
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  14. 14
    Disease gene discovery in male infertility: past, present and future

    Disease gene discovery in male infertility: past, present and future per Miguel J. Xavier, Albert Salas‐Huetos, Manon S. Oud, Kenneth I. Aston, Joris A. Veltman

    Publicat 2020
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  15. 15
    Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes

    Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes per Yukiko Kikuchi, Mohammed Uddin, Joris A. Veltman, Sara Wells, Christopher Morris, Marc Woodbury‐Smith

    Publicat 2025
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  16. 16
    Reduced purifying selection prevails over positive selection in human copy number variant evolution

    Reduced purifying selection prevails over positive selection in human copy number variant evolution per Duc-Quang Nguyen, Caleb Webber, Jayne Y. Hehir‐Kwa, Rolph Pfundt, Joris A. Veltman, Chris P. Ponting

    Publicat 2008
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  17. 17
    Genome-Wide Array-Based Comparative Genomic Hybridization Reveals Multiple Amplification Targets and Novel Homozygous Deletions in Pancreatic Carcinoma Cell Lines

    Genome-Wide Array-Based Comparative Genomic Hybridization Reveals Multiple Amplification Targets and Novel Homozygous Deletions in Pancreatic Carcinoma Cell Lines per Markus Heidenblad, Eric Schoenmakers, Tord Jonson, Ludmila Gorunova, Joris A. Veltman, Ad Geurts van Kessel, Mattias Höglund

    Publicat 2004
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  18. 18
    A systematic review and standardized clinical validity assessment of male infertility genes

    A systematic review and standardized clinical validity assessment of male infertility genes per Manon S. Oud, Ludmila Voložonoka, Roos M. Smits, Lisenka E.L.M. Vissers, Liliana Ramos, Joris A. Veltman

    Publicat 2019
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  19. 19
    Exome sequencing identifies a de novo <i><scp>SCN</scp>2<scp>A</scp></i> mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

    Exome sequencing identifies a de novo <i><scp>SCN</scp>2<scp>A</scp></i> mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hy... per Anna‐Lena Baasch, Irina Hüning, Christian Gilissen, Joerg Klepper, Joris A. Veltman, Gabriele Gillessen‐Kaesbach, Alexander Hoischen, Katja Lohmann

    Publicat 2014
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  20. 20
    Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on Statistical Power Analysis

    Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on... per Jayne Y. Hehir‐Kwa, M. Egmont‐Petersen, Irene M. Janssen, Dominique Smeets, Ad Geurts van Kessel, Joris A. Veltman

    Publicat 2007
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