Search Results - Ruth Y. Eberhardt

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  1. 1
    AntiFam: a tool to help identify spurious ORFs in protein annotation

    AntiFam: a tool to help identify spurious ORFs in protein annotation by Ruth Y. Eberhardt, Daniel H. Haft, Marco Punta, María Martin, Claire O’Donovan, Alex Bateman

    Published 2012
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  2. 2
    New mini- zincin structures provide a minimal scaffold for members of this metallopeptidase superfamily

    New mini- zincin structures provide a minimal scaffold for members of this metallopeptidase superfamily by Christine B. Trame, Yuanyuan Chang, Herbert L. Axelrod, Ruth Y. Eberhardt, Penelope Coggill, Marco Punta, Neil D. Rawlings

    Published 2014
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  3. 3
    Rfam 11.0: 10 years of RNA families

    Rfam 11.0: 10 years of RNA families by Sarah Burge, Jennifer Daub, Ruth Y. Eberhardt, John Tate, Lars Barquist, Eric P. Nawrocki, Sean R. Eddy, Paul P. Gardner, Alex Bateman

    Published 2012
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  4. 4
    Fetal central nervous system anomalies: When should we offer exome sequencing?

    Fetal central nervous system anomalies: When should we offer exome sequencing? by Caitlin Baptiste, Rhiannon Mellis, Vimla S. Aggarwal, Jenny Lord, Ruth Y. Eberhardt, Mark D. Kilby, Eamonn R. Maher, Ronald J. Wapner, Jessica L. Giordano, Lyn S. Chitty

    Published 2022
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  5. 5
    Rfam 12.0: updates to the RNA families database

    Rfam 12.0: updates to the RNA families database by Eric P. Nawrocki, Sarah Burge, Alex Bateman, Jennifer Daub, Ruth Y. Eberhardt, Sean R. Eddy, Evan Floden, Paul P. Gardner, Thomas A. Jones, John Tate, ROBERT FINN

    Published 2014
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  6. 6
    <scp>COngenital</scp> heart disease and the Diagnostic yield with Exome sequencing (<scp>CODE</scp>) study: prospective cohort study and systematic review

    <scp>COngenital</scp> heart disease and the Diagnostic yield with Exome sequencing (<scp>CODE</scp>) study: prospective cohort study and systematic review by Fionnuala Mone, Ruth Y. Eberhardt, Katie Morris, Matthew E. Hurles, DJ McMullan, Eamonn R. Maher, Jenny Lord, Lyn S. Chitty, Jessica L. Giordano, Ronald J. Wapner, Mark D. Kilby

    Published 2020
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  7. 7
    Pfam: the protein families database

    Pfam: the protein families database by ROBERT FINN, Alex Bateman, Jody Clements, Penelope Coggill, Ruth Y. Eberhardt, Sean R. Eddy, Andreas Heger, Kirstie Hetherington, Liisa Holm, Jaina Mistry, Erik L. L. Sonnhammer, John Tate, Marco Punta

    Published 2013
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  8. 8
    The Pfam protein families database: towards a more sustainable future

    The Pfam protein families database: towards a more sustainable future by ROBERT FINN, Penelope Coggill, Ruth Y. Eberhardt, Sean R. Eddy, Jaina Mistry, Alex Mitchell, Simon Potter, Marco Punta, Matloob Qureshi, Amaia Sangrador‐Vegas, Gustavo A Salazar, John Tate, Alex Bateman

    Published 2015
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  9. 9
    Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

    Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies by E Quinlan-Jones, Jenny Lord, Denise Williams, S. Hamilton, Tamás Marton, Ruth Y. Eberhardt, Gabriele Rinck, Elena Prigmore, Rebecca Keelagher, Dominic McMullan, Eamonn R. Maher, Matthew E. Hurles, Mark D. Kilby

    Published 2018
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  10. 10
    The Pfam protein families database

    The Pfam protein families database by Marco Punta, Penny Coggill, Ruth Y. Eberhardt, Jaina Mistry, John Tate, Chris Boursnell, Ningze Pang, Sofia K. Forslund, Goran Ceric, Jody Clements, Andreas Heger, Liisa Holm, Erik L. L. Sonnhammer, Sean R. Eddy, Alex Bateman, ROBERT FINN

    Published 2011
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  11. 11
    Fetal hydrops and the Incremental yield of Next‐generation sequencing over standard prenatal Diagnostic testing (<scp>FIND</scp>) study: prospective cohort study and meta‐analysis

    Fetal hydrops and the Incremental yield of Next‐generation sequencing over standard prenatal Diagnostic testing (<scp>FIND</scp>) study: prospective cohort study and meta‐analysis... by Fionnuala Mone, Ruth Y. Eberhardt, Matthew E. Hurles, Dominic McMullan, Eamonn R. Maher, Jenny Lord, Lyn S. Chitty, Esther Dempsey, Tessa Homfray, Jessica L. Giordano, Ronald J. Wapner, Luming Sun, Teresa N. Sparks, Mary E. Norton, Mark D. Kilby

    Published 2021
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  12. 12
    Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

    Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland by Caroline F. Wright, Patrick Campbell, Ruth Y. Eberhardt, Stuart Aitken, Daniel Perrett, Simon Brent, Petr Danecek, Eugene J. Gardner, V. Kartik Chundru, Sarah Lindsay, Katrina Andrews, Juliet E. Hampstead, Joanna Kaplanis, Kaitlin E. Samocha, Anna Middleton, Julia Foreman, Rachel J. Hobson, Michael Parker, Hilary C. Martin, David Fitzpatrick, Matthew E. Hurles, Helen V. Firth

    Published 2023
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  13. 13
    EMBL Nucleotide Sequence Database in 2006

    EMBL Nucleotide Sequence Database in 2006 by T. Kulikova, R. Akhtar, P. Aldebert, N. Althorpe, Martin Andersson, A. Baldwin, K. Bates, Sumit Bhattacharyya, L. Bower, P. Browne, M. Castro, Guy Cochrane, Katherine A. Duggan, Ruth Y. Eberhardt, N. Faruque, G. Hoad, C. Kanz, Clare Lee, Rasko Leinonen, Q. Lin, Vincent Lombard, Rodrigo López, D. Lorenc, Hamish McWilliam, G. Mukherjee, F. Nardone, M. P. G. Pastor, S. Plaister, S. Sobhany, Peter Stoehr, Robert Vaughan, D. Wu, Weimin Zhu, Rolf Apweiler

    Published 2006
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  14. 14
    The EMBL Nucleotide Sequence Database

    The EMBL Nucleotide Sequence Database by T. Kulikova, R.A. Akhtar, P. Aldebert, N. Althorpe, Martin Andersson, A. Baldwin, K. Bates, Sumit Bhattacharyya, L Bower, P. Browne, M. Castro, Guy Cochrane, Katherine A. Duggan, Ruth Y. Eberhardt, N. Faruque, G. Hoad, C. Kanz, Chaeyoung Lee, Rasko Leinonen, Q. Lin, Vincent Lombard, Rodrigo López, D. Lorenc, Hamish McWilliam, G. Mukherjee, F. Nardone, M. P. G. Pastor, S. Plaister, S. Sobhany, Peter Stoehr, Robert Vaughan, D. Wu, Weifeng Zhu, Rolf Apweiler

    Published 2004
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  15. 15
    Priorities for nucleotide trace, sequence and annotation data capture at the Ensembl Trace Archive and the EMBL Nucleotide Sequence Database

    Priorities for nucleotide trace, sequence and annotation data capture at the Ensembl Trace Archive and the EMBL Nucleotide Sequence Database by Guy Cochrane, R.A. Akhtar, P. Aldebert, N. Althorpe, A. Baldwin, K. Bates, Sumit Bhattacharyya, James Bonfield, L. Bower, P. Browne, M. Castro, Tony Cox, F. Demiralp, Ruth Y. Eberhardt, Nadeem Faruque, G. Hoad, M. Jang, T. Kulikova, Alberto Labarga, Rasko Leinonen, Susan R. Leonard, Q. Lin, Rodrigo López, D. Lorenc, Hamish McWilliam, G. Mukherjee, F. Nardone, S. Plaister, Stephen J. Robinson, S. Sobhany, Robert Vaughan, D. Wu, Weimin Zhu, Rolf Apweiler, Tim Hubbard, Ewan Birney

    Published 2007
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  16. 16
    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 by 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

    Published 2019
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  17. 17
    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 by 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

    Published 2021
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  18. 18
    Prevalence of Deleterious Variants in <i>MC3R</i> in Patients With Constitutional Delay of Growth and Puberty

    Prevalence of Deleterious Variants in <i>MC3R</i> in Patients With Constitutional Delay of Growth and Puberty by Katie Duckett, Alice Williamson, John W. R. Kincaid, Kara Rainbow, Laura J. Corbin, Hilary C. Martin, Ruth Y. Eberhardt, Qin Qin Huang, Matthew E. Hurles, Wei He, Raja Brauner, Angela Delaney, Leo Dunkel, Romina P. Grinspon, Janet E. Hall, Joel N. Hirschhorn, Sasha Howard, Ana Cláudia Latronico, Alexander A.L. Jorge, Ken McElreavey, Verónica Mericq, Paulina M. Merino, Mark R. Palmert, Lacey Plummer, Rodolfo A. Rey, Raíssa Rezende, Stephanie B. Seminara, Kathryn Salnikov, Indraneel Banerjee, Brian Lam, John R. B. Perry, Nicholas J. Timpson, Peter Clayton, Yee-Ming Chan, Ken K. Ong, Stephen O’Rahilly

    Published 2023
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  19. 19
    Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

    Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study by Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt, Gabriele Rinck, Susan Hamilton, E Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna Best, Georgina K. Carey, Rhiannon Mellis, Sarah Robart, Ian Berry, Kate Chandler, Deirdre Cilliers, Lara Cresswell, Sandra L. Edwards, Carol Gardiner, Alex Henderson, Simon Holden, Tessa Homfray, Tracy Lester, Rebecca Lewis, Ruth Newbury‐Ecob, Katrina Prescott, Oliver Quarrell, Simon Ramsden, Eileen Roberts, Dagmar Tapon, Madeleine Tooley, Pradeep Vasudevan, Astrid Weber, Diana Wellesley, Paul Westwood, Helen White, Michael Parker, Denise Williams, Lucy Jenkins, Richard H. Scott, Mark D. Kilby, Lyn S. Chitty, Matthew E. Hurles, Eamonn R. Maher, Mark S. Bateman, Ian Berry, Sunayna Best, Carolyn Campbell, Jenni Campbell, Georgina K. Carey, Kate Chandler, Lyn S. Chitty, Deirdre Cilliers, Kelly Cohen, Emma Collingwood, P. Constantinou, Lara Cresswell, Catherine Delmege, Ruth Y. Eberhardt, Sandra L. Edwards, Richard J. Ellis, Jerry Evans, Thomas R. Everett, Clare F Pinto, Natalie Forrester, Emma Fowler, Carol Gardiner, Susan Hamilton, Karen Healey, Alex Henderson, Simon Holden, Tessa Homfray, Rebecca Hudson, Matthew E. Hurles, Lucy Jenkins, Rebecca Keelagher, Mark D. Kilby, Tracey Lester, Rebecca Lewis, Jenny Lord, Eamonn R. Maher, Tamás Marton, Dominic McMullan, Sarju Mehta, Rhiannon Mellis, Ruth Newbury‐Ecob, Soo‐Mi Park, Michael Parker, Katrina Prescott, Elena Prigmore, Oliver Quarrell, E Quinlan-Jones, Simon Ramsden, Gabriele Rinck, Sarah Robart, Eileen Roberts, Jayne Rowland, Richard H. Scott, James Steer, Dagmar Tapon, Emma J. Taylor

    Published 2019
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  20. 20
    The UniProt-GO Annotation database in 2011

    The UniProt-GO Annotation database in 2011 by Emily Dimmer, Rachael P. Huntley, Yasmin Alam-Faruque, Tony Sawford, Claire O’Donovan, María Martin, Benoît Bely, P. Browne, W. Mun Chan, Ruth Y. Eberhardt, M. Gardner, Kati Laiho, David Legge, Michele Magrane, Klemens Pichler, Daniele Giovanni Poggioli, Harminder Sehra, Andrea H Auchincloss, Kristian B. Axelsen, Marie-Claude Blatter, Emmanuel Boutet, S. Braconi-Quintaje, Lionel Breuza, Alan Bridge, Elisabeth Coudert, Anne Estreicher, L. Famiglietti, S. Ferro-Rojas, Marc Feuermann, Arnaud Gos, Nadine Gruaz-Gumowski, Ursula Hinz, Chantal Hulo, Joachim James, Silvia Jiménez, Florence Jungo, G. Keller, Philippe Le Mercier, Damien Lieberherr, Patrick Masson, M. Moinat, Ivo Pedruzzi, Sylvain Poux, Catherine Rivoire, Bernd Roechert, Michel Schneider, André Stutz, Suresh Sundaram, Michael Tognolli, Lydie Bougueleret, Ghislaine Argoud‐Puy, Isabelle Cusin, P. Duek- Roggli, Ioannis Xénarios, Rolf Apweiler

    Published 2011
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