檢索結果 - Patrick Short

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  1. 1
    De novo mutations in regulatory elements in neurodevelopmental disorders

    De novo mutations in regulatory elements in neurodevelopmental disorders 由 Patrick Short, Jeremy F. McRae, Giuseppe Gallone, Alejandro Sifrim, Hyejung Won, Daniel H. Geschwind, Caroline F. Wright, Helen V. Firth, David Fitzpatrick, Jeffrey C. Barrett, Matthew E. Hurles

    出版 2018
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  2. 2
    Towards programming immune tolerance through geometric manipulation of phosphatidylserine

    Towards programming immune tolerance through geometric manipulation of phosphatidylserine 由 Reid A. Roberts, Timothy K. Eitas, James D. Byrne, Brandon M. Johnson, Patrick Short, Karen P. McKinnon, Shannon Reisdorf, J. Christopher Luft, Joseph M. DeSimone, Jenny P.‐Y. Ting

    出版 2015
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  3. 3
    TNFα signals through specialized factories where responsive coding and miRNA genes are transcribed

    TNFα signals through specialized factories where responsive coding and miRNA genes are transcribed 由 Argyris Papantonis, Takahide Kohro, Sabyasachi Baboo, Joshua D. Larkin, Binwei Deng, Patrick Short, Shuichi Tsutsumi, Stephen Taylor, Yasuharu Kanki, Mika Kobayashi, Guoliang Li, Huay-Mei Poh, Xiaoan Ruan, Hiroyuki Aburatani, Yijun Ruan, Tatsuhiko Kodama, Youichiro Wada, Peter R. Cook

    出版 2012
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  4. 4
    Contribution of retrotransposition to developmental disorders

    Contribution of retrotransposition to developmental disorders 由 Eugene J. Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E. Samocha, Juliet Handsaker, Sebastian S. Gerety, Holly Ironfield, Patrick Short, Alejandro Sifrim, Tarjinder Singh, Kate Chandler, Emma Clement, Katherine Lachlan, Katrina Prescott, Elisabeth Rosser, David Fitzpatrick, Helen V. Firth, Matthew E. Hurles

    出版 2019
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  5. 5
    Genetic and chemotherapeutic influences on germline hypermutation

    Genetic and chemotherapeutic influences on germline hypermutation 由 Joanna Kaplanis, Benjamin Ide, Rashesh Sanghvi, Matthew D. C. Neville, Petr Danecek, Tim H. H. Coorens, Elena Prigmore, Patrick Short, Giuseppe Gallone, Jeremy F. McRae, Loukas Moutsianas, Chris A. Odhams, Jenny Carmichael, Angela Barnicoat, Helen V. Firth, Patrick O’Brien, Raheleh Rahbari, Matthew E. Hurles

    出版 2022
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  6. 6
    Pathogenicity and selective constraint on variation near splice sites

    Pathogenicity and selective constraint on variation near splice sites 由 Jenny Lord, Giuseppe Gallone, Patrick Short, Jeremy F. McRae, Holly Ironfield, Elizabeth Wynn, Sebastian S. Gerety, Liu He, Bronwyn Kerr, Diana Johnson, Emma McCann, Esther Kinning, Frances Flinter, I. Karen Temple, Jill Clayton‐Smith, Meriel McEntagart, Sally Ann Lynch, Shelagh Joss, Sofia Douzgou, Tabib Dabir, Virginia Clowes, Vivienne McConnell, Wayne Lam, Caroline F. Wright, David Fitzpatrick, Helen V. Firth, Jeffrey C. Barrett, Matthew E. Hurles

    出版 2018
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  7. 7
    Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

    Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders 由 Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick Short, Rebecca I. Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R.F. Reijnders, Alison Yeung, Helger G. Yntema, DDD Study, Lisenka E.L.M. Vissers, Jane Juusola, Caroline F. Wright, Han G. Brunner, Helen V. Firth, David Fitzpatrick, Jeffrey C. Barrett, Matthew E. Hurles, Christian Gilissen, Kyle Retterer

    出版 2019
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  8. 8
    Quantifying the contribution of recessive coding variation to developmental disorders

    Quantifying the contribution of recessive coding variation to developmental disorders 由 Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre, Gabriela Sánchez-Andrade, Mark Sanderson, James Stephenson, Carla P. Jones, Juliet Handsaker, Giuseppe Gallone, Michaela Bruntraeger, Jeremy F. McRae, Elena Prigmore, Patrick Short, Mari Niemi, Joanna Kaplanis, Elizabeth J. Radford, Nadia Akawi, Meena Balasubramanian, John Dean, Rachel Horton, Alice Hulbert, Diana Johnson, Katie Johnson, Dhavendra Kumar, Sally Ann Lynch, Sarju Mehta, Jenny Morton, Michael Parker, Miranda Splitt, Peter D. Turnpenny, Pradeep Vasudevan, Michael Wright, Andrew Bassett, Sebastian S. Gerety, Caroline F. Wright, David Fitzpatrick, Helen V. Firth, Matthew E. Hurles, Jeffrey C. Barrett

    出版 2018
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  9. 9
    Genome-wide Association Study of Long COVID

    Genome-wide Association Study of Long COVID 由 Vilma Lammi, Tomoko Nakanishi, Samuel E. Jones, Shea J. Andrews, Juha Karjalainen, Beatriz Cortés, Heath O’Brien, Brian Fulton‐Howard, Hele Haapaniemi, Axel Schmidt, Ruth E. Mitchell, Abdou Mousas, Massimo Mangino, Alicia Huerta-Chagoya, Nasa Sinnott-Armstrong, Elizabeth T. Cirulli, Marc Vaudel, Alex S. F. Kwong, Amit K. Maiti, M. Marttila, Chiara Batini, Francesca Minnai, Anna Dearman, Robert Warmerdam, Celia Burgos Sequeros, Thomas W. Winkler, Daniel M. Jordan, Lindsay Guare, Ekaterina Vergasova, Eirini Marouli, Pasquale Striano, Ummu Afeera Zainulabid, Ashutosh Kumar, Hajar Fauzan Ahmad, Ryuya Edahiro, Shuhei Azekawa, Joseph J. Grzymski, Makoto Ishii, Yukinori Okada, Noam D. Beckmann, Meena Kumari, Ralf Wagner, Iris M. Heid, Catherine John, Patrick Short, Per Magnus, Karina Banasik, Frank Geller, Lude Franke, Alexander Rakitko, Emma L. Duncan, Alessandra Renieri, Konstantinos K. Tsilidis, Rafael de Cid, Ahmadreza Niavarani, Teresa Tusié‐Luna, Shefali S. Verma, George Davey Smith, Nicholas J. Timpson, Mark J. Daly, Andrea Ganna, Eva C. Schulte, J. Brent Richards, Kerstin U. Ludwig, Michael Hultström, Hugo Zeberg, Hanna M. Ollila

    出版 2023
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  10. 10
    Evidence for 28 genetic disorders discovered by combining healthcare and research data

    Evidence for 28 genetic disorders discovered by combining healthcare and research data 由 Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick Short, Rebecca Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R.F. Reijnders, Alison Yeung, Helger G. Yntema, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer

    出版 2020
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  11. 11
    Genome-wide association study of long COVID

    Genome-wide association study of long COVID 由 Vilma Lammi, Tomoko Nakanishi, Samuel E. Jones, Shea J. Andrews, Juha Karjalainen, Beatriz Cortés, Heath O’Brien, Ana Ochoa-Guzmán, Brian Fulton‐Howard, Martin Broberg, Hele Haapaniemi, Masahiro Kanai, Matti Pirinen, Axel Schmidt, Ruth E. Mitchell, Abdou Mousas, Massimo Mangino, Alicia Huerta-Chagoya, Nasa Sinnott-Armstrong, Elizabeth T. Cirulli, Marc Vaudel, Alex S. F. Kwong, Amit K. Maiti, M. Marttila, Daniel Posner, Alexis Rodriguez, Chiara Batini, Francesca Minnai, Anna Dearman, Robert Warmerdam, Celia Burgos Sequeros, Thomas W. Winkler, Daniel M. Jordan, Raimonds Reščenko, Lorenzo Miano, Jacqueline M. Lane, Ryan Chung, Beatriz Guillén‐Guío, Olivia C. Leavy, Laura Carvajal-Silva, Kevin Aguilar-Valdés, Erika Frangione, Lindsay Guare, Ekaterina Vergasova, Eirini Marouli, Pasquale Striano, Ummu Afeera Zainulabid, Ashutosh Kumar, Hajar Fauzan Ahmad, Ryuya Edahiro, Shuhei Azekawa, Shiuh‐Wen Luoh, Christian Erikstrup, Ole Birger Pedersen, Jordan Lerner‐Ellis, Alicia Colombo, Joseph J. Grzymski, Makoto Ishii, Yukinori Okada, Noam D. Beckmann, Meena Kumari, Ralf Wagner, Iris M. Heid, Catherine John, Patrick Short, Per Magnus, Laura Ansone, Luca Valenti, Sulggi A. Lee, Louise V. Wain, Ricardo A. Verdugo, Karina Banasik, Frank Geller, Lude Franke, Alexander Rakitko, Emma L. Duncan, Alessandra Renieri, Konstantinos K. Tsilidis, Rafael de Cid, Ahmadreza Niavarani, Erik Abner, Teresa Tusié‐Luna, Shefali S. Verma, George Davey Smith, Nicholas J. Timpson, Ravi Madduri, Kelly Cho, Mark J Daly, Andrea Ganna, Eva C. Schulte, J. Brent Richards, Kerstin U. Ludwig, Michael Hultström, Hugo Zeberg, Hanna M. Ollila

    出版 2025
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