檢索結果 - Giuseppe Gallone

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  1. 1
    Vitamin D receptor ChIP-seq in primary CD4+ cells: relationship to serum 25-hydroxyvitamin D levels and autoimmune disease

    Vitamin D receptor ChIP-seq in primary CD4+ cells: relationship to serum 25-hydroxyvitamin D levels and autoimmune disease 由 Adam E. Handel, Geir Kjetil Sandve, Giulio Disanto, Antonio J. Berlanga‐Taylor, Giuseppe Gallone, Heather Hanwell, Finn Drabløs, Gavin Giovannoni, George C. Ebers, Sreeram V Ramagopalan

    出版 2013
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  2. 2
    Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

    Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations 由 Joanna Kaplanis, Nadia Akawi, Giuseppe Gallone, Jeremy F. McRae, Elena Prigmore, Caroline F. Wright, David Fitzpatrick, Helen V. Firth, Jeffrey C. Barrett, Matthew E. Hurles

    出版 2019
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  3. 3
    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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  4. 4
    Foxn1 regulates key target genes essential for T cell development in postnatal thymic epithelial cells

    Foxn1 regulates key target genes essential for T cell development in postnatal thymic epithelial cells 由 Saulius Žuklys, Adam E. Handel, Saule Zhanybekova, Fatima S Govani, Marcel P. Keller, Stefano Maio, C. Mayer, Hong Ying Teh, Katrin Hafen, Giuseppe Gallone, Thomas Barthlott, Chris P. Ponting, Georg A. Holländer

    出版 2016
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  5. 5
    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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  6. 6
    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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  7. 7
    Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

    Common genetic variants contribute to risk of rare severe neurodevelopmental disorders 由 Mari Niemi, Hilary C. Martin, Daniel L Rice, Giuseppe Gallone, Scott D. Gordon, Martin Kelemen, Kerrie McAloney, Jeremy F. McRae, Elizabeth J. Radford, Sui Yu, Jozef Gécz, Nicholas G. Martin, Caroline F. Wright, David Fitzpatrick, Helen V. Firth, Matthew E. Hurles, Jeffrey C. Barrett

    出版 2018
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  8. 8
    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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  9. 9
    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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  10. 10
    Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

    Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia 由 Daniel Toddie-Moore, Alexandros Onoufriadis, Amelia Shoemark, Michael A. Simpson, Petra I. zur Lage, Sandra C. de Castro, Lucia Bartoloni, Giuseppe Gallone, Stavroula Petridi, Wesley J. Woollard, Dinu Antony, Miriam Schmidts, Teresa Didonna, Periklis Makrythanasis, Jeremy Bevillard, Nigel P. Mongan, Jana Djakow, Gerard Pals, Jane S. Lucas, June K. Marthin, Kim G. Nielsen, Federico Santoni, Michel Guipponi, Claire Hogg, Stylianos E. Antonarakis, Richard D. Emes, Eddie M.K. Chung, Nicholas D. E. Greene, Jean-Louis Blouin, Andrew P. Jarman, Hannah M. Mitchison

    出版 2013
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  11. 11
    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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  12. 12
    Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

    Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms 由 Caroline F. Wright, Nicholas M. Quaife, Laura Ramos-Hernández, Petr Danecek, Matteo P. Ferla, Kaitlin E. Samocha, Joanna Kaplanis, Eugene J. Gardner, Ruth Y. Eberhardt, Katherine R. Chao, Konrad J. Karczewski, Joannella Morales, Giuseppe Gallone, Meena Balasubramanian, Siddharth Banka, Lianne Gompertz, Bronwyn Kerr, Amelia Kirby, Sally Ann Lynch, Jenny E.V. Morton, Hailey Pinz, Francis H. Sansbury, Helen Stewart, Britton Zuccarelli, Stuart A. Cook, Jenny C. Taylor, Jane Juusola, Kyle Retterer, Helen V. Firth, Matthew E. Hurles, Enrique Lara‐Pezzi, Paul J.R. Barton, Nicola Whiffin

    出版 2021
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  13. 13
    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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  14. 14
    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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  15. 15
    The contribution of X-linked coding variation to severe developmental disorders

    The contribution of X-linked coding variation to severe developmental disorders 由 Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari Niemi, Giuseppe Gallone, Jeremy F. McRae, 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, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw‐Smith, Claire Turner, Peter D. Turnpenny, Carolyn Tysoe, Therese Bradley, Rosemarie Davidson

    出版 2021
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