检索结果 - Christian Gilissen

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  1. 1
    Novel bioinformatic developments for exome sequencing

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

    出版 2016
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  2. 2
    De Novo Mutations Reflect Development and Aging of the Human Germline

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

    出版 2019
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  3. 3
    Disease gene identification strategies for exome sequencing

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

    出版 2012
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  4. 4
    Unlocking Mendelian disease using exome sequencing

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

    出版 2011
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  5. 5
    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 由 Laurens Wiel, Hanka Venselaar, Joris A. Veltman, Gert Vriend, Christian Gilissen

    出版 2017
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    Artigo
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  6. 6
    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 由 Stefan H. Lelieveld, Malte Spielmann, Stefan Mundlos, Joris A. Veltman, Christian Gilissen

    出版 2015
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  7. 7
    Accurate detection of clinically relevant uniparental disomy from exome sequencing data

    Accurate detection of clinically relevant uniparental disomy from exome sequencing data 由 Kévin Yauy, Nicole de Leeuw, Helger G. Yntema, Rolph Pfundt, Christian Gilissen

    出版 2019
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  8. 8
    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 由 Laurens Wiel, Coos Baakman, Daan Gilissen, Joris A. Veltman, Gerrit Vriend, Christian Gilissen

    出版 2019
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  9. 9
    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 由 Laurens Wiel, Coos Baakman, Daan Gilissen, Joris A. Veltman, Gerrit Vriend, Christian Gilissen

    出版 2019
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  10. 10
    Front Cover, Volume 40, Issue 8

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

    出版 2019
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  11. 11
    Clinical exome sequencing—Mistakes and caveats

    Clinical exome sequencing—Mistakes and caveats 由 Jordi Corominas, Sanne P. Smeekens, Marcel Nelen, Helger G. Yntema, Erik‐Jan Kamsteeg, Rolph Pfundt, Christian Gilissen

    出版 2022
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  12. 12
    The heat shock response restricts virus infection in Drosophila

    The heat shock response restricts virus infection in Drosophila 由 Sarah H. Merkling, Gijs J. Overheul, Joël T. van Mierlo, Daan W. Arends, Christian Gilissen, Ronald P. van Rij

    出版 2015
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  13. 13
    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... 由 Anna‐Lena Baasch, Irina Hüning, Christian Gilissen, Joerg Klepper, Joris A. Veltman, Gabriele Gillessen‐Kaesbach, Alexander Hoischen, Katja Lohmann

    出版 2014
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  14. 14
    Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

    Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing 由 Xiao Chen, John Harting, Emily Farrow, Isabelle Thiffault, Dalia Kasperavičiūtė, Alexander Hoischen, Christian Gilissen, Tomi Pastinen, Michael A. Eberle

    出版 2023
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    Artigo
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  15. 15
    Hematopoietic stem cells exhibit a specific ABC transporter gene expression profile clearly distinct from other stem cells

    Hematopoietic stem cells exhibit a specific ABC transporter gene expression profile clearly distinct from other stem cells 由 Leilei Tang, Saskia M. Bergevoet, Christian Gilissen, Théo de Witte, Joop H. Jansen, Bert A. van der Reijden, Reinier Raymakers

    出版 2010
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  16. 16
    Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy

    Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy 由 Peter J. Taylor, Grant A. Betts, Sarah Maroulis, Christian Gilissen, Robyn L. Pedersen, David Mowat, Heather Johnston, Michael F. Buckley

    出版 2010
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  17. 17
    Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life

    Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life 由 Rocío Acuña‐Hidalgo, Hilal Sengül, Marloes Steehouwer, Maartje van de Vorst, Sita H. Vermeulen, Lambertus A. Kiemeney, Joris A. Veltman, Christian Gilissen, Alexander Hoischen

    出版 2017
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  18. 18
    Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

    Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes 由 Stefan H. Lelieveld, Laurens Wiel, Hanka Venselaar, Rolph Pfundt, Gerrit Vriend, Joris A. Veltman, Han G. Brunner, Lisenka E.L.M. Vissers, Christian Gilissen

    出版 2017
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  19. 19
    Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

    Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation 由 Rocío Acuña‐Hidalgo, Tan Bo, Michael Kwint, Maartje van de Vorst, Michele Pinelli, Joris A. Veltman, Alexander Hoischen, Lisenka E.L.M. Vissers, Christian Gilissen

    出版 2015
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  20. 20
    1 in 38 individuals at risk of a dominant medically actionable disease

    1 in 38 individuals at risk of a dominant medically actionable disease 由 Lonneke Haer‐Wigman, Vyne van der Schoot, Ilse Feenstra, Anneke T. Vulto‐van Silfhout, Christian Gilissen, Han G. Brunner, Lisenka E.L.M. Vissers, Helger G. Yntema

    出版 2018
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