Výsledky vyhledávání - Alison J. Coffey

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  1. 1
    A Comparison of the Whole Genome Approach of MeDIP-Seq to the Targeted Approach of the Infinium HumanMethylation450 BeadChip® for Methylome Profiling

    A Comparison of the Whole Genome Approach of MeDIP-Seq to the Targeted Approach of the Infinium HumanMethylation450 BeadChip® for Methylome Profiling Autor Christine Clark, Priit Palta, Christopher J. Joyce, Carol Scott, Elin Grundberg, Panos Deloukas, Aarno Palotie, Alison J. Coffey

    Vydáno 2012
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  2. 2
    Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome

    Exon Array CGH: Detection of Copy-Number Changes at the Resolution of Individual Exons in the Human Genome Autor Pawandeep Dhami, Alison J. Coffey, Stephen Abbs, Joris Vermeesch, Jan P. Dumanski, Karen Woodward, Robert Andrews, Cordelia Langford, David Vetrie

    Vydáno 2005
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  3. 3
    Novel mode of ligand binding by the SH2 domain of the human XLP disease gene product SAP/SH2D1A

    Novel mode of ligand binding by the SH2 domain of the human XLP disease gene product SAP/SH2D1A Autor Shun-Cheng Li, Gerald Gish, Daiwen Yang, Alison J. Coffey, Julie D. Forman‐Kay, Ingemar Ernberg, Lewis E. Kay, Tony Pawson

    Vydáno 1999
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  4. 4
    Genome-wide methylation analyses of primary human leukocyte subsets identifies functionally important cell-type–specific hypomethylated regions

    Genome-wide methylation analyses of primary human leukocyte subsets identifies functionally important cell-type–specific hypomethylated regions Autor Matthias Zilbauer, Tim F. Rayner, Christine Clark, Alison J. Coffey, Chris J. Joyce, Priit Palta, Aarno Palotie, Paul Lyons, Kenneth G. C. Smith

    Vydáno 2013
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  5. 5
    Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

    Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum Autor Elizabeth M. McCormick, Kierstin Keller, Julie P. Taylor, Alison J. Coffey, Li Shen, Danuta Krotoski, Brian Harding, Xiaowu Gai, Marni J. Falk, Zarazuela Zolkipli‐Cunningham, Shamima Rahman

    Vydáno 2023
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  6. 6
    A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

    A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants Autor Eva Lenassi, Ajoy Vincent, Zheng Li, Zubin Saihan, Alison J. Coffey, Heather B. Steele-Stallard, Anthony T. Moore, Karen P. Steel, Linda Luxon, Elise Héon, Maria Bitner‐Glindzicz, Andrew R. Webster

    Vydáno 2015
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  7. 7
    The GENCODE exome: sequencing the complete human exome

    The GENCODE exome: sequencing the complete human exome Autor Alison J Coffey, Felix Kokocinski, Maria S Calafato, Carol Scott, Priit Palta, Eleanor Drury, Christopher J. Joyce, Emily M LeProust, Jennifer Harrow, Sarah Hunt, Anna-Elina Lehesjoki, Daniel J. Turner, Tim Hubbard, Aarno Palotie

    Vydáno 2011
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  8. 8
    Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

    Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study Autor Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, Heather B. Steele-Stallard, John C. Ambrose, Alison J. Coffey, Jenny Emmerson, Elene Haralambous, Yasmin Hughes, Karen P. Steel, Linda Luxon, Andrew R. Webster, Maria Bitner‐Glindzicz

    Vydáno 2011
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  9. 9
    Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study

    Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study Autor Andrea Jorgensen, Sameh Alzubiedi, Jieying Eunice Zhang, Andrew Keniry, Anita Hanson, Dyfrig Hughes, Diane Van Eker, Lisa Stevens, Karen Hawkins, Cheng‐Hong Toh, Farhad Kamali, Ann K. Daly, David Fitzmaurice, Alison J. Coffey, Paula Williamson, Brian Kevin Park, Panos Deloukas, Munir Pirmohamed

    Vydáno 2009
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  10. 10
    Determining the characteristics of genetic disorders that predict inclusion in newborn genomic sequencing programs

    Determining the characteristics of genetic disorders that predict inclusion in newborn genomic sequencing programs Autor Thomas Minten, Nina B. Gold, Sarah K. Bick, Sophia Adelson, Nils Gehlenborg, Laura M. Amendola, François Boemer, Alison J. Coffey, Nicolas Encina, Alessandra Ferlini, Janbernd Kirschner, Bianca Russell, Laurent Servais, Kristen L. Sund, Ryan J. Taft, Petros Tsipouras, Hana Zouk, David Bick, Robert C. Green

    Vydáno 2024
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  11. 11
    A genetic study of Wilson’s disease in the United Kingdom

    A genetic study of Wilson’s disease in the United Kingdom Autor Alison J. Coffey, Miranda Durkie, Stephen Hague, Kirsten McLay, Jennifer Emmerson, Christine Lo, Stefanie Klaffke, Christopher J. Joyce, Anil Dhawan, Nedim Hadzic, Giorgina Mieli‐Vergani, Richard Kirk, K. Elizabeth Allen, David Nicholl, Siew Cheng Wong, William Griffiths, Sarah Smithson, Nicola Giffin, Ali S. Taha, Sally Connolly, Godfrey T. Gillett, Stuart Tanner, Jim Bonham, Basil Sharrack, Aarno Palotie, Magnus Rattray, Ann Dalton, Oliver Bandmann

    Vydáno 2013
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  12. 12
    A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways

    A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways Autor Chris I. Jones, Sarah Bray, Stephen F. Garner, Jonathan Stephens, Bernard de Bono, Will Angenent, David Bentley, Philippa Burns, Alison J. Coffey, Panos Deloukas, M. E. Earthrowl, Richard W. Farndale, Marc Hoylaerts, Kerstin Koch, Angela Rankin, Catherine M. Rice, Jane Rogers, Nilesh J. Samani, Michael Steward, Adam Walker, Nicholas A. Watkins, Jan-Willem Akkerman, Frank Dudbridge, Alison H. Goodall, Willem H. Ouwehand

    Vydáno 2009
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  13. 13
    Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

    Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Autor Andrew M. Gross, Subramanian S. Ajay, Vani Rajan, Carolyn M. Brown, Krista Bluske, Nicole Burns, Aditi Chawla, Alison J. Coffey, Alka Malhotra, Alicia Scocchia, Erin Thorpe, Natasa Dzidic, Karine Hovanes, Trilochan Sahoo, Egor Dolzhenko, Bryan R. Lajoie, Amirah Khouzam, Shimul Chowdhury, John W. Belmont, Eric Roller, Sergii Ivakhno, Stephen Tanner, Julia McEachern, Tina Hambuch, Michael A. Eberle, R. Tanner Hagelstrom, David Bentley, Denise Perry, Ryan J. Taft

    Vydáno 2018
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  14. 14
    Clustered Coding Variants in the Glutamate Receptor Complexes of Individuals with Schizophrenia and Bipolar Disorder

    Clustered Coding Variants in the Glutamate Receptor Complexes of Individuals with Schizophrenia and Bipolar Disorder Autor René Frank, Allan F. McRae, Andrew Pocklington, Louie N. van de Lagemaat, Pau Navarro, Mike D. R. Croning, Noboru H. Komiyama, Sophie J. Bradley, R. A. John Challiss, J. Douglas Armstrong, ROBERT FINN, M. P. Malloy, Alan Maclean, Sarah E. Harris, John M. Starr, Sanjeev S. Bhaskar, Eleanor Howard, Sarah Hunt, Alison J. Coffey, Venkatesh Ranganath, Panos Deloukas, Jane Rogers, Walter Muir, Ian J. Deary, Douglas Blackwood, Peter M. Visscher, Seth G. N. Grant

    Vydáno 2011
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  15. 15
    Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

    Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico Autor Alicia Scocchia, Kristen Wigby, Diane Masser‐Frye, Miguel Del Campo, Carolina I. Galarreta, Erin Thorpe, Julia McEachern, Keisha Robinson, Andrew M. Gross, Maren Bennett, Krista Bluske, Carolyn M. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Amanda Clause, Alison J. Coffey, María Laura Cremona, Vlad Gainullin, R. Tanner Hagelstrom, Alka Malhotra, M. Naresh Kumar. K. Rajan, Revathi Rajkumar, Sarah Schmidt, Subramanian S. Ajay, Vani Rajan, Denise Perry, John W. Belmont, David Bentley, Marilyn C. Jones, Ryan J. Taft

    Vydáno 2019
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  16. 16
    Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus

    Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus Autor Michael R. Johnson, Jacques Behmoaras, Leonardo Bottolo, Michelle L. Krishnan, Katharina Pernhorst, Paola L. Meza Santoscoy, Tiziana Rossetti, Doug Speed, Prashant K. Srivastava, Marc Chadeau‐Hyam, Nabil Hajji, Aleksandra Dąbrowska, Maxime Rotival, Banafsheh Razzaghi, Stjepana Kovac, Klaus Wanisch, Federico W. Grillo, Anna Slaviero, Sarah R. Langley, Kirill Shkura, Paolo Roncon, Tisham De, Manuel Mattheisen, Pitt Niehusmann, Terence J. O’Brien, Slavé Petrovski, Marec von Lehe, Per Hoffmann, Johan G. Eriksson, Alison J. Coffey, Sven Cichon, Matthew C. Walker, Michele Simonato, Bénédicte Danis, Manuela Mazzuferi, Patrik Foerch, Susanne Schoch, Vincenzo De Paola, Rafał M. Kamiński, Vincent T. Cunliffe, Albert J. Becker, Enrico Petretto

    Vydáno 2015
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  17. 17
    The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

    The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources Autor Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin‐Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew E. Hurles, S. E. A. Leigh, Ivone Leong, Sateesh Maddirevula, Christa Lese Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, Thabo M. Yates, Heidi L. Rehm

    Vydáno 2022
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  18. 18
    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships Autor Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista Bluske, B.M. Bowen, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa Elnagheeb, Anne Girod, Himanshu Goel, Katie Golden‐Grant, Thuong Ha, Ada Hamosh, Jennifer Huang, Madeline Y. Hughes, Saumya Shekhar Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, S. E. A. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma Owens, Elizabeth E. Palmer, Brooke Palus, Mayher Patel, Revathi Rajkumar, Julie Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Zornitza Stark, Strom P Samuel, Julie P. Taylor, Courtney Thaxton, Devon Lamb Thrush, Sabrina Toro, Kezang Tshering, Nicole Vasilevsky, Bess Wayburn, Ryan Webb, Anne O’Donnell‐Luria, Alison J. Coffey

    Vydáno 2024
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  19. 19
    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships Autor Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista Bluske, B.M. Bowen, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa Elnagheeb, Anne Girod, Himanshu Goel, Katie Golden‐Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya Shekhar Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, S. E. A. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher Patel, Revathi Rajkumar, Julie Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon Lamb Thrush, Sabrina Toro, Kezang Tshering, Nicole Vasilevsky, Bess Wayburn, Ryan Webb, Anne O’Donnell‐Luria, Alison J. Coffey

    Vydáno 2025
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  20. 20
    Genome-wide and fine-resolution association analysis of malaria in West Africa

    Genome-wide and fine-resolution association analysis of malaria in West Africa Autor Muminatou Jallow, Yik Ying Teo, Kerrin S. Small, Kirk A. Rockett, Panos Deloukas, Taane G. Clark, Katja Kivinen, Kalifa Bojang, David J. Conway, Margaret Pinder, Giorgio Sirugo, Fatou Sisay-Joof, Stanley Usen, Sarah Auburn, Suzannah J. Bumpstead, Susana Campino, Alison J. Coffey, Andrew Dunham, Andrew E. Fry, Angela Green, Rhian Gwilliam, Sarah Hunt, Michael Inouye, Anna E. Jeffreys, Alieu Mendy, Aarno Palotie, Simon Potter, Jiannis Ragoussis, Jane Rogers, Kate Rowlands, Elilan Somaskantharajah, Pamela Whittaker, Claire Widden, Peter Donnelly, Bryan Howie, Jonathan Marchini, Andrew P. Morris, Miguel SanJoaquin, Eric Achidi, Tsiri Agbenyega, Angela Allen, Olukemi K. Amodu, Patrick H. Corran, Abdoulaye Djimdé, Amagana Dolo, Ogobara K. Doumbo, Chris Drakeley, Sarah J. Dunstan, Jennifer Evans, Jeremy Farrar, Deepika Fernando, Tran Tinh Hien, Rolf D. Horstmann, Muntaser E. Ibrahim, Nadira D. Karunaweera, Gilbert Kokwaro, Kwadwo A. Koram, Martha Lemnge, Julie Makani, Kevin Marsh, P Michon, David Modiano, Malcolm E. Molyneux, Ivo Müeller, Michael Parker, Norbert Peshu, Christopher V. Plowe, Odile Puijalon, John C. Reeder, Hugh Reyburn, Eleanor M. Riley, Anavaj Sakuntabhai, Pratap Singhasivanon, Sodiomon B. Sirima, Adama Tall, Terrie E. Taylor, Mahamadou A. Théra, Marita Troye‐Blomberg, Thomas N. Williams, Michael D. Wilson, Dominic Kwiatkowski

    Vydáno 2009
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