檢索結果 - Tomas Fitzgerald

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  1. 1
    From genetic variation to precision medicine

    From genetic variation to precision medicine 由 Panagiotis I. Sergouniotis, Tomas Fitzgerald, Ewan Birney

    出版 2023
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  2. 2
    A robust statistical method for case-control association testing with copy number variation

    A robust statistical method for case-control association testing with copy number variation 由 C. Barnes, Vincent Plagnol, Tomas Fitzgerald, Richard Redon, Jonathan Marchini, David Clayton, Matthew E. Hurles

    出版 2008
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  3. 3
    The human leukemia virus HTLV-1 alters the structure and transcription of host chromatin in cis

    The human leukemia virus HTLV-1 alters the structure and transcription of host chromatin in cis 由 Anat Melamed, Hiroko Yaguchi, Michi Miura, Aviva Witkover, Tomas Fitzgerald, Ewan Birney, Charles R. M. Bangham

    出版 2018
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  4. 4
    Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation

    Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation 由 Hannah Currant, Tomas Fitzgerald, Praveen J. Patel, Anthony P. Khawaja, Andrew R. Webster, Omar A. Mahroo, Ewan Birney

    出版 2023
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  5. 5
    The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

    The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism 由 Vincent Michaud, Eulalie Lasseaux, David Green, Dave T. Gerrard, Claudio Plaisant, Tomas Fitzgerald, Ewan Birney, Benoı̂t Arveiler, Graeme Black, Panagiotis I. Sergouniotis

    出版 2022
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  6. 6
    Mobilization of giant piggyBac transposons in the mouse genome

    Mobilization of giant piggyBac transposons in the mouse genome 由 Meng Amy Li, Daniel J. Turner, Zemin Ning, Kosuke Yusa, Qi Liang, Sabine Eckert, Lena Rad, Tomas Fitzgerald, Nancy L. Craig, Allan Bradley

    出版 2011
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  7. 7
    A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

    A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders 由 Daniel A. King, Tomas Fitzgerald, Ray Miller, Natalie Canham, Jill Clayton‐Smith, Diana Johnson, Sahar Mansour, Fiona Stewart, Pradeep Vasudevan, Matthew E. Hurles

    出版 2013
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  8. 8
    Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

    Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data 由 Caroline F. Wright, Elena Prigmore, D. Rajan, Juliet Handsaker, Jeremy F. McRae, Joanna Kaplanis, Tomas Fitzgerald, David Fitzpatrick, Helen V. Firth, Matthew E. Hurles

    出版 2019
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  9. 9
    Detection of structural mosaicism from targeted and whole-genome sequencing data

    Detection of structural mosaicism from targeted and whole-genome sequencing data 由 Daniel A. King, Alejandro Sifrim, Tomas Fitzgerald, Raheleh Rahbari, Emma Hobson, Tessa Homfray, Sahar Mansour, Sarju Mehta, Mohammed Shehla, Susan Tomkins, Pradeep Vasudevan, Matthew E. Hurles

    出版 2017
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  10. 10
    Natural genetic variation quantitatively regulates heart rate and dimension

    Natural genetic variation quantitatively regulates heart rate and dimension 由 Jakob Gierten, Bettina Welz, Tomas Fitzgerald, Thomas Thumberger, Rashi Agarwal, Oliver Hummel, Adrien Léger, Philipp Weber, Kiyoshi Naruse, David Hassel, Norbert Hübner, Ewan Birney, Joachim Wittbrodt

    出版 2025
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  11. 11
    Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization

    Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization 由 John C. Marioni, Natalie Thorne, Armand Valsesia, Tomas Fitzgerald, Richard Redon, Heike Fiegler, T. Daniel Andrews, Barbara E. Stranger, Andy G. Lynch, Emmanouil T. Dermitzakis, Nigel P. Carter, Simon Tavaré, Matthew E. Hurles

    出版 2007
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  12. 12
    RNA modifications detection by comparative Nanopore direct RNA sequencing

    RNA modifications detection by comparative Nanopore direct RNA sequencing 由 Adrien Léger, Paulo Amaral, Luca Pandolfini, Charlotte Capitanchik, Federica Capraro, Isaia Barbieri, Valentina Migliori, Nicholas M. Luscombe, Anton J. Enright, Konstantinos Tzelepis, Jernej Ule, Tomas Fitzgerald, Ewan Birney, Tommaso Leonardi, Tony Kouzarides

    出版 2019
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  13. 13
    Copy number variation and evolution in humans and chimpanzees

    Copy number variation and evolution in humans and chimpanzees 由 George H. Perry, Fengtang Yang, Tomàs Marquès‐Bonet, Carly Murphy, Tomas Fitzgerald, Arthur S. Lee, Courtney Hyland, Anne C. Stone, Matthew E. Hurles, Chris Tyler‐Smith, Evan E. Eichler, Nigel P. Carter, Charles Lee, Richard Redon

    出版 2008
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  14. 14
    Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

    Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators 由 Gaia Gestri, Robert J. Osborne, Alexander W. Wyatt, Dianne Gerrelli, Susan Gribble, Helen Stewart, Alan Fryer, David J. Bunyan, Katrina Prescott, J. R. O. Collin, Tomas Fitzgerald, David Robinson, Nigel P. Carter, Stephen W. Wilson, Nicola Ragge

    出版 2009
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  15. 15
    Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

    Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders 由 Caroline F. Wright, Jeremy F. McRae, Stephen Clayton, Giuseppe Gallone, Stuart Aitken, Tomas Fitzgerald, Philip Jones, Elena Prigmore, Diana Rajan, Jenny Lord, Alejandro Sifrim, Rosemary E. Kelsell, Michael Parker, Jeffrey C. Barrett, Matthew E. Hurles, David Fitzpatrick, Helen V. Firth

    出版 2018
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  16. 16
    De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

    De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes 由 Nirmal Vadgama, Alan Pittman, Michael A. Simpson, Niranjanan Nirmalananthan, Robin Murray, Takeo Yoshikawa, Peter De Rijk, Elliott Rees, George Kirov, Deborah Hughes, Tomas Fitzgerald, Mark Kristiansen, Kerra Pearce, Eliza Cerveira, Qihui Zhu, Chengsheng Zhang, Charles Lee, John Hardy, Jamal Nasir

    出版 2019
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  17. 17
    RNA modifications detection by comparative Nanopore direct RNA sequencing

    RNA modifications detection by comparative Nanopore direct RNA sequencing 由 Adrien Léger, Paulo Amaral, Luca Pandolfini, Charlotte Capitanchik, Federica Capraro, Valentina Miano, Valentina Migliori, Patrick Toolan-Kerr, Theodora Sideri, Anton J. Enright, Konstantinos Tzelepis, Folkert J. van Werven, Nicholas M. Luscombe, Isaia Barbieri, Jernej Ule, Tomas Fitzgerald, Ewan Birney, Tommaso Leonardi, Tony Kouzarides

    出版 2021
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  18. 18
    High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia

    High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia 由 Serena Nik‐Zainal, Reiner Strick, Mekayla A. Storer, Ni Huang, Roland Rad, Lionel Willatt, Tomas Fitzgerald, Vicente Martín, Richard Sandford, Nigel P. Carter, Andreas Janecke, Stefan P. Renner, Patricia G. Oppelt, Patricia G. Oppelt, Christine Schulze, Sara Y. Brucker, Matthew E. Hurles, Matthias W. Beckmann, Pamela L. Strissel, Charles Shaw‐Smith

    出版 2011
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  19. 19
    Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

    Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants 由 Dalila Pinto, Katayoon Darvishi, Xinghua Shi, Diana Rajan, Diane Rigler, Tomas Fitzgerald, Anath C. Lionel, Bhooma Thiruvahindrapuram, Jeffrey R. MacDonald, Ryan E. Mills, Aparna Prasad, Kristin Noonan, Susan Gribble, Elena Prigmore, Patricia K. Donahoe, Richard S. Smith, Ji Hyeon Park, Matthew E. Hurles, Nigel P. Carter, Charles Lee, Stephen W. Scherer, Lars Feuk

    出版 2011
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  20. 20
    Massively Parallel Sequencing Reveals the Complex Structure of an Irradiated Human Chromosome on a Mouse Background in the Tc1 Model of Down Syndrome

    Massively Parallel Sequencing Reveals the Complex Structure of an Irradiated Human Chromosome on a Mouse Background in the Tc1 Model of Down Syndrome 由 Susan Gribble, Frances K. Wiseman, Stephen Clayton, Elena Prigmore, Elizabeth Langley, Fengtang Yang, Sean Maguire, Beiyuan Fu, Diana Rajan, Olivia Sheppard, Clare L. Scott, H. Häuser, Philip J. Stephens, Lucy Stebbings, Bee Ling Ng, Tomas Fitzgerald, Michael A. Quail, Ruby Banerjee, Kai Rothkamm, Victor L. J. Tybulewicz, Elizabeth Fisher, Nigel P. Carter

    出版 2013
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