檢索結果 - Jayne Y. Hehir‐Kwa

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  1. 1
    Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology

    Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology 由 Ianthe A. E. M. van Belzen, Alexander Schönhuth, Patrick Kemmeren, Jayne Y. Hehir‐Kwa

    出版 2021
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  2. 2
    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 由 Duc-Quang Nguyen, Caleb Webber, Jayne Y. Hehir‐Kwa, Rolph Pfundt, Joris A. Veltman, Chris P. Ponting

    出版 2008
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  3. 3
    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... 由 Jayne Y. Hehir‐Kwa, M. Egmont‐Petersen, Irene M. Janssen, Dominique Smeets, Ad Geurts van Kessel, Joris A. Veltman

    出版 2007
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  4. 4
    Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

    Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis 由 Brigitte H. W. Faas, I. van der Bürgt, Angelique J. A. Kooper, Rolph Pfundt, Jayne Y. Hehir‐Kwa, Arie P.T. Smits, Nicole de Leeuw

    出版 2010
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  5. 5
    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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  6. 6
    Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

    Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) 由 Mireille Claustres, Viktor Kožich, Elisabeth Dequeker, Brain Fowler, Jayne Y. Hehir‐Kwa, Konstantin Miller, Cor Oosterwijk, Borut Peterlin, Conny M.A. van Ravenswaaij‐Arts, Uwe Zimmermann, Orsetta Zuffardi, Ros Hastings, David Barton

    出版 2013
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  7. 7
    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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  8. 8
    Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

    Genomic microarrays in mental retardation: A practical workflow for diagnostic applications 由 David A. Koolen, Rolph Pfundt, Nicole de Leeuw, Jayne Y. Hehir‐Kwa, Willy M. Nillesen, Ineke Neefs, Ine Scheltinga, Erik A. Sistermans, H.J.M. Smeets, Han G. Brunner, Ad Geurts van Kessel, Joris A. Veltman, Bert B.A. de Vries

    出版 2008
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  9. 9
    Towards a European consensus for reporting incidental findings during clinical NGS testing

    Towards a European consensus for reporting incidental findings during clinical NGS testing 由 Jayne Y. Hehir‐Kwa, Mireille Claustres, Ros Hastings, Conny M.A. van Ravenswaaij‐Arts, Gabrielle Christenhusz, Maurizio Genuardi, Béla Melegh, Anne Cambon‐Thomsen, Philippos C. Patsalis, Joris Vermeesch, Martina C. Cornel, Beverly Searle, Aarno Palotie, Ettore Capoluongo, Borut Peterlin, Xavier Estivill, Peter N. Robinson

    出版 2015
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  10. 10
    Clinical Significance of De Novo and Inherited Copy-Number Variation

    Clinical Significance of De Novo and Inherited Copy-Number Variation 由 Anneke T. Vulto-van Silfhout, Jayne Y. Hehir‐Kwa, Bregje W.M. van Bon, Janneke Schuurs-Hoeijmakers, Stephen Meader, Claudia J.M. Hellebrekers, Ilse J.M. Thoonen, Arjan P.M. de Brouwer, Han G. Brunner, Caleb Webber, Rolph Pfundt, Nicole de Leeuw, Bert de Vries

    出版 2013
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  11. 11
    Diagnostic interpretation of array data using public databases and internet sources

    Diagnostic interpretation of array data using public databases and internet sources 由 Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y. Hehir‐Kwa, Nigel P. Carter, Lars Feuk, Helen V. Firth, Robert M. Kuhn, David H. Ledbetter, Alastair J. Martin, Conny M.A. van Ravenswaaij‐Arts, Stephen W. Scherer, Soheil Shams, Steven Van Vooren, Rolf H. Sijmons, Morris A. Swertz, Ros Hastings

    出版 2012
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  12. 12
    Optical genome mapping identifies a germline retrotransposon insertion in <scp><i>SMARCB1</i></scp> in two siblings with atypical teratoid rhabdoid tumors

    Optical genome mapping identifies a germline retrotransposon insertion in <scp><i>SMARCB1</i></scp> in two siblings with atypical teratoid rhabdoid tumors 由 Mariangela Sabatella, Tuomo Mantere, Esmé Waanders, Kornelia Neveling, Arjen R. Mensenkamp, Freerk van Dijk, Jayne Y. Hehir‐Kwa, Ronnie Derks, Michael Kwint, Luke O’Gorman, Madalena Tropa Martins, Corrie Gidding, Maarten H. Lequin, Benno Küsters, Pieter Wesseling, Marcel Nelen, Jacklyn Biegel, Alexander Hoischen, Marjolijn C.J. Jongmans, Roland P. Kuiper

    出版 2021
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  13. 13
    Improved Gene Fusion Detection in Childhood Cancer Diagnostics Using RNA Sequencing

    Improved Gene Fusion Detection in Childhood Cancer Diagnostics Using RNA Sequencing 由 Jayne Y. Hehir‐Kwa, Marco J. Koudijs, Eugène T.P. Verwiel, Lennart Kester, Marc van Tuil, Eric Strengman, Arjan Buijs, Mariëtte E.G. Kranendonk, Laura S. Hiemcke‐Jiwa, Valérie de Haas, Ellen van de Geer, Wendy de Leng, Jasper van der Lugt, Philip Lijnzaad, Frank C. P. Holstege, Patrick Kemmeren, Bastiaan B.J. Tops

    出版 2022
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  14. 14
    Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

    Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita 由 Marjolijn C.J. Jongmans, Eugène T.P. Verwiel, Yvonne F. Heijdra, Tom Vulliamy, Eveline J. Kamping, Jayne Y. Hehir‐Kwa, Ernie M.H.F. Bongers, Rolph Pfundt, Liesbeth van Emst, Frank N. van Leeuwen, Koen L.I. van Gassen, Ad Geurts van Kessel, Inderjeet Dokal, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg, Roland P. Kuiper

    出版 2012
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  15. 15
    Mutations in ANTXR1 Cause GAPO Syndrome

    Mutations in ANTXR1 Cause GAPO Syndrome 由 Viktor Stránecký, Alexander Hoischen, Hana Hartmannová, Maha S. Zaki, Amit Chaudhary, Enrique Zudaire, Lenka Nosková, Veronika Barešová, Anna Přistoupilová, Kateřina Hodaňová, Jana Sovová, Helena Hůlková, Lenka Piherová, Jayne Y. Hehir‐Kwa, Deepthi De Silva, Manouri P Senanayake, Sameh Farrag, J Zeman, Pavel Martásek, A Baxová, Hanan H. Afifi, Brad St. Croix, Han G. Brunner, Samia A. Temtamy, Stanislav Kmoch

    出版 2013
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  16. 16
    Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

    Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study 由 Dominic McMullan, Michael Bonin, Jayne Y. Hehir‐Kwa, Bert B.A. de Vries, Andreas Dufke, Eleanor Rattenberry, Marloes Steehouwer, Luminita Moruz, Rolph Pfundt, Nicole de Leeuw, Angelika Rieß, Özge Altug-Teber, H. Enders, Sylke Singer, Ute Grasshoff, Michael Walter, Judith Walker, Catherine V. Lamb, E. V. Davison, Louise Brueton, Olaf Rieß, Joris A. Veltman

    出版 2009
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  17. 17
    Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

    Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders 由 Rolph Pfundt, Marisol del Rosario, Lisenka E.L.M. Vissers, Michael Kwint, Irene M. Janssen, Nicole de Leeuw, Helger G. Yntema, Marcel Nelen, Dorien Lugtenberg, Erik‐Jan Kamsteeg, Nienke Wieskamp, Alexander P.A. Stegmann, Servi J.C. Stevens, Richard J. Rodenburg, Annet Simons, Arjen R. Mensenkamp, Tuula Rinne, Christian Gilissen, Hans Scheffer, Joris A. Veltman, Jayne Y. Hehir‐Kwa

    出版 2016
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  18. 18
    Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS

    Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS 由 Ianthe A. E. M. van Belzen, Casey Cai, Marc van Tuil, Shashi Badloe, Eric Strengman, Alex Janse, Eugène T.P. Verwiel, Douwe F. M. van der Leest, Lennart Kester, Jan J. Molenaar, Jules P.P. Meijerink, Jarno Drost, Weng Chuan Peng, Hindrik H. D. Kerstens, Bastiaan B.J. Tops, Frank C. P. Holstege, Patrick Kemmeren, Jayne Y. Hehir‐Kwa

    出版 2023
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  19. 19
    Diagnostic exome sequencing in 266 Dutch patients with visual impairment

    Diagnostic exome sequencing in 266 Dutch patients with visual impairment 由 Lonneke Haer‐Wigman, Wendy AG van Zelst-Stams, Rolph Pfundt, L. Ingeborgh van den Born, Caroline C. W. Klaver, Joanne Verheij, Carel B. Hoyng, Martijn H. Breuning, Camiel J. F. Boon, Anneke J.A. Kievit, Virginie J. M. Verhoeven, Jan WR Pott, Suzanne C.E.H. Sallevelt, Johanna M. van Hagen, Astrid S. Plomp, Hester Y. Kroes, Stefan H. Lelieveld, Jayne Y. Hehir‐Kwa, Steven Castelein, Marcel Nelen, Hans Scheffer, Dorien Lugtenberg, Frans P.M. Cremers, Lies H. Hoefsloot, Helger G. Yntema

    出版 2017
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  20. 20
    Characteristics of de novo structural changes in the human genome

    Characteristics of de novo structural changes in the human genome 由 Wigard P. Kloosterman, Laurent C. Francioli, Fereydoun Hormozdiari, Tobias Marschall, Jayne Y. Hehir‐Kwa, Abdel Abdellaoui, Eric-Wubbo Lameijer, Matthijs H. Moed, Vyacheslav Koval, Ivo Renkens, Markus J. van Roosmalen, Pascal P. Arp, Lennart C. Karssen, Bradley P. Coe, Robert E. Handsaker, H. Eka D. Suchiman, Edwin Cuppen, Djie Tjwan Thung, Mitch McVey, Michael C. Wendl, André G. Uitterlinden, Cornelia M. van Duijn, Morris A. Swertz, Cisca Wijmenga, Gert‐Jan B. van Ommen, P. Eline Slagboom, Dorret I. Boomsma, Alexander Schönhuth, Evan E. Eichler, Paul I. W. de Bakker, Kai Ye, Victor Guryev

    出版 2015
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