检索结果 - Lisenka E.L.M. Vissers

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  1. 1
    The Genetics of Intellectual Disability

    The Genetics of Intellectual Disability 由 Sandra Jansen, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    出版 2023
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  2. 2
    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 由 Lisenka E.L.M. Vissers, Bert B.A. de Vries, Joris A. Veltman

    出版 2009
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  3. 3
    A systematic review and standardized clinical validity assessment of male infertility genes

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

    出版 2019
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  4. 4
    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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  5. 5
    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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  6. 6
    Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context

    Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context 由 Michelle van Slobbe, Arie van Haeringen, Lisenka E.L.M. Vissers, Emilia K. Bijlsma, Julie W. Rutten, Manon Suerink, Esther Nibbeling, Claudia Ruivenkamp, Saskia Koene

    出版 2023
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  7. 7
    Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

    Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases 由 Lotte Krabbenborg, Lisenka E.L.M. Vissers, Jolanda Schieving, Tjitske Kleefstra, Erik-Jan Kamsteeg, Joris A. Veltman, Michèl A.A.P. Willemsen, Simone van der Burg

    出版 2016
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  8. 8
    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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  9. 9
    Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing

    Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing 由 K.J.M. van Nimwegen, Ronald A van Soest, Joris A. Veltman, Marcel Nelen, Gert Jan van der Wilt, Lisenka E.L.M. Vissers, Janneke P.C. Grutters

    出版 2016
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  10. 10
    Mobster: accurate detection of mobile element insertions in next generation sequencing data

    Mobster: accurate detection of mobile element insertions in next generation sequencing data 由 Djie Tjwan Thung, Joep de Ligt, Lisenka E.L.M. Vissers, Marloes Steehouwer, Mark Kroon, Petra de Vries, P. Eline Slagboom, Kai Ye, Joris A. Veltman, Jayne Y. Hehir‐Kwa

    出版 2014
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  11. 11
    Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia

    Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia 由 Manon S. Oud, Özlem Okutman, Linda A.J. Hendricks, Petra F. de Vries, Brendan J. Houston, Lisenka E.L.M. Vissers, Moira K. O’Bryan, Liliana Ramos, H Chemes, Stéphane Viville, Joris A. Veltman

    出版 2019
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  12. 12
    Long-read trio sequencing of individuals with unsolved intellectual disability

    Long-read trio sequencing of individuals with unsolved intellectual disability 由 Marc Pauper, Erdi Küçük, Aaron M. Wenger, Shreyasee Chakraborty, Primo Baybayan, Michael Kwint, Bart van der Sanden, Marcel Nelen, Ronny Derks, Han G. Brunner, Alexander Hoischen, Lisenka E.L.M. Vissers, Christian Gilissen

    出版 2020
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  13. 13
    Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

    Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield 由 Bart van der Sanden, Jordi Corominas, Michelle de Groot, Maartje Pennings, Rowdy Meijer, Nienke E. Verbeek, Bart van de Warrenburg, Meyke Schouten, Helger G. Yntema, Lisenka E.L.M. Vissers, Erik‐Jan Kamsteeg, Christian Gilissen

    出版 2021
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  14. 14
    Involvement of the kinesin family members<i>KIF4A</i>and<i>KIF5C</i>in intellectual disability and synaptic function

    Involvement of the kinesin family members<i>KIF4A</i>and<i>KIF5C</i>in intellectual disability and synaptic function 由 Marjolein H. Willemsen, Wei Ba, W.M. Wissink-Lindhout, Arjan P.M. de Brouwer, Stefan A. Haas, Melanie Bienek, Hao Hu, Lisenka E.L.M. Vissers, Hans van Bokhoven, Vera M. Kalscheuer, Nael Nadif Kasri, Tjitske Kleefstra

    出版 2014
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  15. 15
    Comprehensive de novo mutation discovery with HiFi long-read sequencing

    Comprehensive de novo mutation discovery with HiFi long-read sequencing 由 Erdi Küçük, Bart van der Sanden, Luke O’Gorman, Michael Kwint, Ronny Derks, Aaron M. Wenger, Christine Lambert, Shreyasee Chakraborty, Primo Baybayan, William J. Rowell, Han G. Brunner, Lisenka E.L.M. Vissers, Alexander Hoischen, Christian Gilissen

    出版 2023
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  16. 16
    Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing

    Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing 由 Joep de Ligt, Philip M. Boone, Rolph Pfundt, Lisenka E.L.M. Vissers, Todd Richmond, Joel Geoghegan, Kathleen O’Moore, Nicole de Leeuw, Christine J. Shaw, Han G. Brunner, James R. Lupski, Joris A. Veltman, Jayne Y. Hehir‐Kwa

    出版 2013
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  17. 17
    Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

    Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP 由 Lisenka E.L.M. Vissers, Ekkehart Lausch, Sheila Unger, Belinda Campos‐Xavier, Christian Gilissen, Antonio Rossi, Marisol del Rosario, Hanka Venselaar, Ute Knoll, Sheela Nampoothiri, Mohandas Nair, Jürgen W. Spranger, Han G. Brunner, Luisa Bonafé, Joris A. Veltman, Bernhard Zabel, Andrea Superti‐Furga

    出版 2011
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  18. 18
    De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

    De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome 由 Michael A. Simpson, Charu Deshpande, Dimitra Dafou, Lisenka E.L.M. Vissers, Wesley J. Woollard, Susan Holder, Gabriele Gillessen‐Kaesbach, Ronny Derks, Susan M. White, Ruthy Cohen‐Snuijf, Sarina G. Kant, Lies H. Hoefsloot, William Reardon, Han G. Brunner, Ernie M.H.F. Bongers, Richard C. Trembath

    出版 2012
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  19. 19
    Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

    Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome 由 Janneke Schuurs-Hoeijmakers, Edwin C. Oh, Lisenka E.L.M. Vissers, Mariëlle E.M. Swinkels, Christian Gilissen, Michèl A.A.P. Willemsen, Maureen Holvoet, Marloes Steehouwer, Joris A. Veltman, Bert B.A. de Vries, Hans van Bokhoven, Arjan P.M. de Brouwer, Nicholas Katsanis, Koenraad Devriendt, Han G. Brunner

    出版 2012
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  20. 20
    A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

    A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology 由 Lisenka E.L.M. Vissers, K.J.M. van Nimwegen, Jolanda Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G. Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G. Brunner, Simone van der Burg, Janneke P.C. Grutters, Joris A. Veltman, Michèl A.A.P. Willemsen

    出版 2017
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