检索结果 - Niko Popitsch

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  1. 1
    GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data

    GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data 由 Edoardo Giacopuzzi, Niko Popitsch, Jenny C. Taylor

    出版 2022
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  2. 2
    Temperature-dependent sRNA transcriptome of the Lyme disease spirochete

    Temperature-dependent sRNA transcriptome of the Lyme disease spirochete 由 Niko Popitsch, Ivana Bilusic, Philipp Rescheneder, Renée Schroeder, Meghan Lybecker

    出版 2017
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  3. 3
    The Borrelia burgdorferi RelA/SpoT Homolog and Stringent Response Regulate Survival in the Tick Vector and Global Gene Expression during Starvation

    The Borrelia burgdorferi RelA/SpoT Homolog and Stringent Response Regulate Survival in the Tick Vector and Global Gene Expression during Starvation 由 Dan Drecktrah, Meghan Lybecker, Niko Popitsch, Philipp Rescheneder, Laura S. Hall, D. Scott Samuels

    出版 2015
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  4. 4
    <i>In vivo</i>expression technology and 5′ end mapping of the<i>Borrelia burgdorferi</i>transcriptome identify novel RNAs expressed during mammalian infection

    <i>In vivo</i>expression technology and 5′ end mapping of the<i>Borrelia burgdorferi</i>transcriptome identify novel RNAs expressed during mammalian infection 由 Philip P. Adams, Carlos Flores Avile, Niko Popitsch, Ivana Bilusic, Renée Schroeder, Meghan Lybecker, Mollie W. Jewett

    出版 2016
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  5. 5
    Natural RNA Polymerase Aptamers Regulate Transcription in E. coli

    Natural RNA Polymerase Aptamers Regulate Transcription in E. coli 由 Nadezda Sedlyarova, Philipp Rescheneder, Andrés Magán, Niko Popitsch, Rziha Natascha, Ivana Bilusic, Vitaly Epshtein, Bob Zimmermann, Meghan Lybecker, Vitaly Sedlyarov, Renée Schroeder, Evgeny Nudler

    出版 2017
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  6. 6
    mRNA stability and m6A are major determinants of subcellular mRNA localization in neurons

    mRNA stability and m6A are major determinants of subcellular mRNA localization in neurons 由 Inga Loedige, Artem Baranovskii, Samantha Mendonsa, Sayaka Dantsuji, Niko Popitsch, Laura Breimann, Nadja Zerna, В. В. Черепанов, Miha Milek, Stefan L. Ameres, Marina Chekulaeva

    出版 2023
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  7. 7
    Assessment of Pre-Analytical Sample Handling Conditions for Comprehensive Liquid Biopsy Analysis

    Assessment of Pre-Analytical Sample Handling Conditions for Comprehensive Liquid Biopsy Analysis 由 Teresa Gerber, Sabine Taschner‐Mandl, Lisa Saloberger-Sindhöringer, Niko Popitsch, Ellen Heitzer, Volker Witt, René Geyeregger, Caroline Hutter, Raphaela Schwentner, Inge M. Ambros, Peter F. Ambros

    出版 2020
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  8. 8
    Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

    Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis 由 Alistair T. Pagnamenta, Malcolm F. Howard, Éva Wisniewski, Niko Popitsch, Samantha J.L. Knight, David A. Keays, Gerardine Quaghebeur, Helen Cox, P. Cox, Tamás Balla, Jenny C. Taylor, Usha Kini

    出版 2015
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  9. 9
    Impaired plasticity of macrophages in X-linked adrenoleukodystrophy

    Impaired plasticity of macrophages in X-linked adrenoleukodystrophy 由 Isabelle Weinhofer, Bettina Zierfuss, Simon Hametner, Magdalena Wagner, Niko Popitsch, Christian Machacek, Barbara Bartolini, Gerhard J. Zlabinger, Anna Ohradanova‐Repic, Hannes Stockinger, Wolfgang Köhler, Romana Höftberger, Günther Regelsberger, Sonja Forss‐Petter, Hans Lassmann, Johannes Berger

    出版 2018
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  10. 10
    Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

    Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders 由 Alistair T. Pagnamenta, Yoshiko Murakami, John Taylor, Consuelo Anzilotti, Malcolm F. Howard, Venessa Miller, Diana Johnson, Shereen Tadros, Sahar Mansour, I. Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C. Taylor, Usha Kini

    出版 2017
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  11. 11
    The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

    The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom 由 Katharina Schwarze, James Buchanan, Jilles M. Fermont, Hélène Dreau, Mark Tilley, John Taylor, Pavlos Antoniou, Samantha J.L. Knight, Carme Camps, Melissa M. Pentony, Erika Kvikstad, Steve Harris, Niko Popitsch, Alistair T. Pagnamenta, Anna Schuh, Jenny C. Taylor, Sarah Wordsworth

    出版 2019
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  12. 12
    Sequencing of human genomes with nanopore technology

    Sequencing of human genomes with nanopore technology 由 Rory Bowden, R. W. Davies, Andreas Heger, Alistair T. Pagnamenta, Mariateresa de Cesare, Laura Oikkonen, Duncan Parkes, Colin Freeman, Fatima Dhalla, Smita Y. Patel, Niko Popitsch, Camilla L. C. Ip, Hannah Roberts, Silvia Salatino, Helen Lockstone, Gerton Lunter, Jenny C. Taylor, David Buck, Michael A. Simpson, Peter Donnelly

    出版 2019
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  13. 13
    Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia

    Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia 由 Jenny Klintman, Niamh Appleby, Basile Stamatopoulos, Katie Ridout, Toby A. Eyre, Pauline Robbe, Laura Lopez Pascua, Samantha J.L. Knight, Hélène Dreau, Maité Cabes, Niko Popitsch, Mats Ehinger, José I. Martín‐Subero, Elı́as Campo, Robert Månsson, Davide Rossi, Jenny C. Taylor, Dimitrios V. Vavoulis, Anna Schuh

    出版 2020
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  14. 14
    CD371 cell surface expression: a unique feature of <i>DUX4</i>-rearranged acute lymphoblastic leukemia

    CD371 cell surface expression: a unique feature of <i>DUX4</i>-rearranged acute lymphoblastic leukemia 由 Dagmar Schinnerl, Ester Mejstříková, Angela Schumich, Markéta Žaliová, Klaus Fortschegger, Karin Nebral, Andishe Attarbaschi, Karel Fišer, Maximilian Kauer, Niko Popitsch, Sabrina Haslinger, Andrea Inthal, Barbara Buldini, Giuseppe Basso, Jean‐Pierre Bourquin, Giuseppe Gaipa, Monika Brüggemann, Tamar Feuerstein, Margarita Maurer, Renate Panzer‐Grümayer, Jan Trka, Georg Mann, Oskar A. Haas, Ondřej Hrušák, Michael Dworzak, Sabine Strehl

    出版 2019
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  15. 15
    Mutations in<i>PIGY</i>: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

    Mutations in<i>PIGY</i>: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies 由 Biljana Ilkovski, Alistair T. Pagnamenta, Gina O’Grady, Taroh Kinoshita, Malcolm F. Howard, Monkol Lek, Brett Thomas, Anne Turner, John Christodoulou, David Sillence, Samantha J.L. Knight, Niko Popitsch, David A. Keays, Consuelo Anzilotti, Anne Goriely, Leigh B. Waddell, Fabienne Brilot, Kathryn N. North, Noriyuki Kanzawa, Daniel G. MacArthur, Jenny C. Taylor, Usha Kini, Yoshiko Murakami, Nigel F. Clarke

    出版 2015
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  16. 16
    Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

    Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project 由 Pauline Robbe, Niko Popitsch, Samantha J.L. Knight, Pavlos Antoniou, Jennifer Becq, Miao He, Alexander Kanapin, Anastasia Samsonova, Dimitrios V. Vavoulis, Mark T. Ross, Zoya Kingsbury, Maité Cabes, Sara D.C. Ramos, Suzanne Page, Hélène Dreau, Kate Ridout, J. Louise Jones, Alice Tuff-Lacey, Shirley Henderson, Joanne Mason, Francesca M. Buffa, Clare Verrill, David Maldonado‐Pérez, Ioannis Roxanis, Elena Collantes, Lisa Browning, Sunanda Dhar, Stephen Damato, S. J. Davies, Mark J. Caulfield, David Bentley, Jenny C. Taylor, Clare Turnbull, Anna Schuh

    出版 2018
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  17. 17
    Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

    Factors influencing success of clinical genome sequencing across a broad spectrum of disorders 由 Jenny C. Taylor, Hilary C. Martin, Stefano Lise, John Broxholme, Jean‐Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan, A.R. Aricescu, Moustafa Attar, Christian Babbs, Jennifer Becq, David Beeson, Celeste Bento, P Bignell, Edward Blair, Veronica J. Buckle, Katherine R. Bull, Ondřej Cais, Holger Cario, Helen Chapel, Richard R. Copley, Richard J. Cornall, Jude Craft, Karin Dahan, Emma E. Davenport, Calliope A. Dendrou, Olivier Devuyst, Aimée L Fenwick, Jonathan Flint, Lars Fugger, Rodney D. Gilbert, Anne Goriely, Angie Green, Ingo H. Greger, Russell Grocock, Anja V. Gruszczyk, Robert Hastings, Edouard Hatton, Douglas R. Higgs, Adrian V. S. Hill, Chris Holmes, Malcolm F. Howard, Linda Hughes, Peter Humburg, David H. Johnson, Fredrik Karpe, Zoya Kingsbury, Usha Kini, Julian C. Knight, Jonathan Krohn, Sarah Lamble, Craig B. Langman, Lorne Lonie, Joshua Luck, Davis J. McCarthy, Simon J. McGowan, Mary Frances McMullin, Kerry A. Miller, Lisa Murray, Andrea H. Németh, M. Andrew Nesbit, David Nutt, Elizabeth Ormondroyd, Annette Oturai, Alistair T. Pagnamenta, Smita Y. Patel, Melanie J. Percy, Nayia Petousi, Paolo Piazza, Siân E. Piret, Guadalupe Polanco‐Echeverry, Niko Popitsch, Fiona Powrie, Christopher W. Pugh, Lynn Quek, Peter A. Robbins, Kathryn Robson, Alexandra Russo, Natasha Sahgal, Pauline A. van Schouwenburg, Anna Schuh, Earl D. Silverman, Alison Simmons, Per Soelberg Sørensen, Elizabeth Sweeney, John Taylor, Rajesh V. Thakker, Ian Tomlinson, Amy Trebes, Stephen R.F. Twigg, Holm H. Uhlig, Paresh Vyas, Tim J. Vyse, Steven A. Wall, Hugh Watkins, Michael P. Whyte, Lorna Witty

    出版 2015
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  18. 18
    Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

    Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases 由 Alistair T. Pagnamenta, Carlos Camps, Edoardo Giacopuzzi, John Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schweßinger, Jim R. Hughes, Gerton Lunter, Hélène Dreau, Matteo P. Ferla, Lukas Lange, Yeşim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Banos‐Pinero, David Beeson, Tal Ben‐Ami, David Bennett, Celeste Bento, Edward Blair, Charlotte Brasch‐Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Dong Yin, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg A. Holländer, M K Javaid, Maureen A. Kane, Déirdre Kelly, Dominic F. Kelly, Samantha J.L. Knight, Alexandra Y. Kreins, Erika Kvikstad, Craig B. Langman, Tracy Lester, Kate E Lines, Simon Lord, Xin Lü, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian D. Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlčochová, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Christopher W. Pugh, Abolfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R.F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven A. Wall, Jing Wang, Hugh Watkins, Jaroslav Žák, Anna Schuh, Usha Kini, Andrew O.M. Wilkie, Niko Popitsch, Jenny C. Taylor

    出版 2023
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