Search Results - Joannella Morales

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  1. 1
    Drosophila Fragile X Protein, DFXR, Regulates Neuronal Morphology and Function in the Brain

    Drosophila Fragile X Protein, DFXR, Regulates Neuronal Morphology and Function in the Brain by Joannella Morales, P. Robin Hiesinger, Andrew J. Schroeder, Kazuhiko Kume, Patrik Verstreken, F. Rob Jackson, David L. Nelson, Bassem A. Hassan

    Published 2002
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  2. 2
    Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

    Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains by David Monk, Joannella Morales, Johan T. den Dunnen, Silvia Russo, Franck Court, Dirk Prawitt, Thomas Eggermann, Jasmin Beygo, Karin Buiting, Zeynep Tümer

    Published 2016
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  3. 3
    Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

    Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants by Jacqueline MacArthur, Joannella Morales, Ray Tully, Alex Astashyn, Laurent Gil, Elspeth A. Bruford, Pontus Larsson, Paul Flicek, Raymond Dalgleish, Donna Maglott, Fiona Cunningham

    Published 2013
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  4. 4
    The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

    The NHGRI GWAS Catalog, a curated resource of SNP-trait associations by Danielle Welter, Jacqueline MacArthur, Joannella Morales, Tony Burdett, Peggy Hall, Heather Junkins, Alan Klemm, Paul Flicek, Teri A. Manolio, Lucia A. Hindorff, Helen Parkinson

    Published 2013
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  5. 5
    Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

    Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH by Karyn Mégy, Kate Downes, Ilenia Simeoni, Loredana Bury, Joannella Morales, Rutendo Mapeta, Daniel B. Bellissimo, Paul F. Bray, Anne Goodeve, Paolo Gresele, Michele P. Lambert, Pieter H. Reitsma, Willem H. Ouwehand, Kathleen Freson

    Published 2019
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  6. 6
    The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

    The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog) by Jacqueline MacArthur, Emily Bowler-Barnett, María Cerezo, Laurent Gil, Peggy Hall, Emma Hastings, Heather Junkins, Aoife McMahon, Annalisa Milano, Joannella Morales, Zoë May Pendlington, Danielle Welter, Tony Burdett, Lucia A. Hindorff, Paul Flicek, Fiona Cunningham, Helen Parkinson

    Published 2016
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  7. 7
    A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

    A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog by Joannella Morales, Danielle Welter, Emily Bowler-Barnett, María Cerezo, Laura W. Harris, Aoife McMahon, Peggy Hall, Heather Junkins, Annalisa Milano, Emma Hastings, Claudio Malangone, Annalisa Buniello, Tony Burdett, Paul Flicek, Helen Parkinson, Fiona Cunningham, Lucia A. Hindorff, Jacqueline MacArthur

    Published 2018
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  8. 8
    The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

    The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 by Annalisa Buniello, Jacqueline MacArthur, María Cerezo, Laura W. Harris, James Hayhurst, Claudio Malangone, Aoife McMahon, Joannella Morales, Edward Mountjoy, Elliot Sollis, Dániel Süveges, Olga Vrousgou, Patricia L. Whetzel, Ridwan Amode, José Ángel Guillén, Harpreet Singh Riat, Stephen J. Trevanion, Peggy Hall, Heather Junkins, Paul Flicek, Tony Burdett, Lucia A. Hindorff, Fiona Cunningham, Helen Parkinson

    Published 2018
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  9. 9
    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation by Erica Andersen, Danielle R. Azzariti, Lawrence Babb, Jonathan S. Berg, Leslie G. Biesecker, Zo Bly, Adam H. Buchanan, Marina T. DiStefano, Li Gong, Steven M. Harrison, Jessica Ezzell Hunter, B Kattman, Teri E. Klein, Melissa Landrum, Kandamurugu Manickam, Alessandra Serrano Marroquin, Alastair J. Martin, Laura V. Milko, Aleksandar Milosavljevic, Joannella Morales, Tristan Nelson, Sharon E. Plon, Bradford C. Powell, Erin M. Ramos, Heidi L. Rehm, Erin Rooney Riggs, Deborah Ritter, Neethu Shah, Courtney Thaxton, Erik C. Thorland, Meredith Weaver, Phillip Weller, Matt W. Wright

    Published 2024
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  10. 10
    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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  11. 11
    A joint NCBI and EMBL-EBI transcript set for clinical genomics and research

    A joint NCBI and EMBL-EBI transcript set for clinical genomics and research by Joannella Morales, Shashikant Pujar, Jane Loveland, Alex Astashyn, Ruth Bennett, Andrew Berry, Eric Cox, Claire Davidson, Olga Ermolaeva, Catherine M. Farrell, Reham Fatima, Laurent Gil, Tamara Goldfarb, José M. González, Diana Haddad, Matthew P. Hardy, Toby Hunt, John D. Jackson, Vinita Joardar, Mike Kay, Vamsi K. Kodali, Kelly M. McGarvey, Aoife McMahon, Jonathan M. Mudge, Daniel N. Murphy, Michael R. Murphy, Bhanu Rajput, Sanjida H Rangwala, Lillian D. Riddick, Françoise Thibaud‐Nissen, Glen Threadgold, Anjana R. Vatsan, Craig Wallin, David Webb, Paul Flicek, Ewan Birney, Kim D. Pruitt, Adam Frankish, Fiona Cunningham, Terence D. Murphy

    Published 2022
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  12. 12
    Whole-genome sequencing of patients with rare diseases in a national health system

    Whole-genome sequencing of patients with rare diseases in a national health system by Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V. V. Deevi, Timothy J. Aitman, David Bennett, Paul Calleja, Keren Carss, Mark J. Caulfield, Patrick F. Chinnery, Peter H. Dixon, Daniel P. Gale, Roger James, Ania Koziell, Michael Laffan, Adam P. Levine, Eamonn R. Maher, Hugh S. Markus, Joannella Morales, Nicholas W. Morrell, Andrew Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, Irene Roberts, Noémi Roy, Moin A. Saleem, Kenneth G. C. Smith, Hannah Stark, Rhea Tan, Andreas C. Themistocleous, Adrian J. Thrasher, Hugh Watkins, Andrew R. Webster, Martin R. Wilkins, Catherine Williamson, James W. Whitworth, Sean Humphray, David Bentley, Nathalie Kingston, Neil Walker, John R. Bradley, Sofie Ashford, Christopher J. Penkett, Kathleen Freson, Kathleen Stirrups, F. Lucy Raymond, Willem H. Ouwehand

    Published 2021
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  13. 13
    Ensembl 2019

    Ensembl 2019 by Fiona Cunningham, Premanand Achuthan, Wasiu Akanni, James E. Allen, M Ridwan Amode, Irina M. Armean, Ruth Bennett, Jyothish Bhai, Konstantinos Billis, Sanjay Boddu, Carla Cummins, Claire Davidson, Kamalkumar Dodiya, Astrid Gall, Carlos García Girón, Laurent Gil, Tiago Grego, Leanne Haggerty, Erin Haskell, Thibaut Hourlier, Osagie Izuogu, Sophie H. Janacek, Thomas Juettemann, Mike Kay, Matthew R. Laird, Ilias Lavidas, Zhicheng Liu, Jane Loveland, José Carlos Marugán, Thomas Maurel, Aoife McMahon, Benjamin Moore, Joannella Morales, Jonathan M. Mudge, Michael Nuhn, Denye Ogeh, Anne Parker, Andrew Parton, Mateus Patrício, Ahamed Imran Abdul Salam, Bianca M. Schmitt, Helen Schuilenburg, Dan Sheppard, Helen Sparrow, Eloise Stapleton, M. Szuba, Kieron Taylor, Glen Threadgold, Anja Thormann, Alessandro Vullo, Brandon Walts, Andrea Winterbottom, Amonida Zadissa, Marc Chakiachvili, Adam Frankish, Sarah Hunt, Myrto Kostadima, Nicholas Langridge, Fergal J. Martin, Matthieu Muffato, Emily Perry, Magali Ruffier, D. Staines, Stephen J. Trevanion, Bronwen Aken, Andrew Yates, Daniel R. Zerbino, Paul Flicek

    Published 2018
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  14. 14
    Ensembl 2020

    Ensembl 2020 by Andrew Yates, Premanand Achuthan, Wasiu Akanni, James E. Allen, Jamie Allen, Jorge Álvarez-Jarreta, M Ridwan Amode, Irina M. Armean, Andrey G Azov, Ruth Bennett, Jyothish Bhai, Konstantinos Billis, Sanjay Boddu, José Carlos Marugán, Carla Cummins, Claire Davidson, Kamalkumar Dodiya, Reham Fatima, Astrid Gall, Carlos García Girón, Laurent Gil, Tiago Grego, Leanne Haggerty, Erin Haskell, Thibaut Hourlier, Osagie Izuogu, Sophie H. Janacek, Thomas Juettemann, Mike Kay, Ilias Lavidas, Anh Tuấn Lê, Diana Lemos, José M. González, Thomas Maurel, Mark D. McDowall, Aoife McMahon, Shamika Mohanan, Benjamin Moore, Michael Nuhn, Denye N Oheh, Anne Parker, Andrew Parton, Mateus Patrício, Manoj Pandian Sakthivel, Ahamed Imran Abdul Salam, Bianca M. Schmitt, Helen Schuilenburg, Dan Sheppard, Irina Sycheva, M. Szuba, Kieron Taylor, Anja Thormann, Glen Threadgold, Alessandro Vullo, Brandon Walts, Andrea Winterbottom, Amonida Zadissa, Marc Chakiachvili, Bethany Flint, Adam Frankish, Sarah Hunt, Garth R IIsley, Myrto Kostadima, Nicholas Langridge, Jane Loveland, Fergal J. Martin, Joannella Morales, Jonathan M. Mudge, Matthieu Muffato, Emily Perry, Magali Ruffier, Stephen J. Trevanion, Fiona Cunningham, Kevin Howe, Daniel R. Zerbino, Paul Flicek

    Published 2019
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  15. 15
    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

    IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients by Cyril Mignot, Aoife McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie‐Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnérias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth Donner, Bénédicte Duban‐Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin‐Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminśka, Boris Keren, Marion Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanović, Julia Métreau, Jacques L Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie‐Laure Moutard, Arnold Munnich, Xilma R. Ortiz‐González, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quēlin, Alyssa Rosen, J. Roume, Elsa Rossignol, Marleen Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby P.C. Koeleman, Rikke S. Møller, Gaëtan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne

    Published 2018
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  16. 16
    Whole-genome sequencing of patients with rare diseases in a national health system

    Whole-genome sequencing of patients with rare diseases in a national health system by Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V. V. Deevi, Timothy J. Aitman, David Bennett, Paul Calleja, Keren Carss, Mark J. Caulfield, Patrick F. Chinnery, Peter Dixon, Daniel P. Gale, Roger James, Ania Koziell, Michael Laffan, Adam P. Levine, Eamonn R. Maher, Hugh S. Markus, Joannella Morales, Nicholas W. Morrell, Andrew Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, Irene Roberts, Noémi Roy, Moin A. Saleem, Kenneth G. C. Smith, Hannah Stark, Rhea Tan, Andreas C. Themistocleous, Adrian J. Thrasher, Hugh Watkins, Andrew R. Webster, Martin R. Wilkins, Catherine Williamson, James Whitworth, Sean Humphray, David Bentley, Stephen Abbs, Lara Abulhoul, Julian Adlard, Munaza Ahmed, Timothy J. Aitman, Hana Alachkar, David Allsup, J. P. Almeida, Philip Ancliff, Richard Antrobus, Ruth Armstrong, Gavin Arno, Sofie Ashford, William J. Astle, Anthony Attwood, Paul Aurora, Christian Babbs, Chiara Bacchelli, Tamam Bakchoul, Siddharth Banka, Tadbir K. Bariana, Julian Barwell, Joana Batista, Helen Baxendale, Phil Beales, David Bennett, David Bentley, Agnieszka Bierżyńska, Tina Biss, Maria Bitner‐Glindzicz, Graeme Black, Marta Bleda, Iulia Blesneac, Detlef Böckenhauer, Harm Jan Bogaard, Christian Bourne, Sara Boyce, John R. Bradley, Eugene Bragin, Gerome Breen, Paul Brennan, Carole Brewer, Matthew A. Brown, Andrew C. Browning, Michael J. Browning, Rachel Buchan, Matthew Buckland

    Published 2020
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