Výsledky vyhledávání - Pilar Cacheiro

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  1. 1
    New models for human disease from the International Mouse Phenotyping Consortium

    New models for human disease from the International Mouse Phenotyping Consortium Autor Pilar Cacheiro, Melissa Haendel, Damian Smedley

    Vydáno 2019
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  2. 2
    The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease

    The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease Autor Tudor Groza, Federico López, Hamed Mashhadi, Violeta Muñoz‐Fuentes, Osman Güneş, Robert Wilson, Pilar Cacheiro, Anthony Frost, Piia Keskivali-Bond, Bora Vardal, Aaron McCoy, Tsz Kwan Cheng, Luís Santos, Sara Wells, Damian Smedley, Ann‐Marie Mallon, Helen Parkinson

    Vydáno 2022
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  3. 3
    ‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

    ‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization Autor María García-Murias, Beatriz Quintáns, Manuel Arias, Ana I. Seixas, Pilar Cacheiro, Rosa Tarrı́o, Julio Pardo, María Jesús Rosado Millán, Susana Arias‐Rivas, Patricia Blanco, D Dapena, Ramón Moreira, Francisco Rodrı́guez-Trelles, Jorge Sequeiros, Ángel Carracedo, Isabel Silveira, María Jesús Sobrido

    Vydáno 2012
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  4. 4
    The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation

    The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation Autor Violeta Muñoz‐Fuentes, Pilar Cacheiro, Terrence F. Meehan, Juan Antonio Aguilar‐Pimentel, Steve D. M. Brown, Ann M. Flenniken, Paul Flicek, Antonella Galli, Hamed Haseli Mashhadi, Martin Hrabě de Angelis, Jong Kim, K. C. Kent Lloyd, Colin McKerlie, Hugh W. Morgan, Stephen A. Murray, Lauryl M. J. Nutter, Patrick T. Reilly, John R. Seavitt, Je Kyung Seong, Michelle Simon, Hannah Wardle‐Jones, Ann‐Marie Mallon, Damian Smedley, Helen Parkinson

    Vydáno 2018
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  5. 5
    A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

    A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery Autor Daniel Daniš, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh Carmody, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter Freeman, Adam S.L. Graefe, Tudor Groza, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Chris Mungall, Monica Muñoz‐Torres, Justin Reese, Filip Rehburg, Bárbara Carvalho Santos dos Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, J. Wagstaff, David Zocche, Melissa Haendel, Peter N. Robinson

    Vydáno 2024
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  6. 6
    Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

    Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology Autor Ferdinand Dhombres, Patricia Morgan, Bimal P. Chaudhari, Isabel Filges, Teresa N. Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Bénéteau, Pilar Cacheiro, Leigh Carmody, Sophie Collardeau‐Frachon, Esther Dempsey, Andreas Dufke, Michael H. Duyzend, Mirna el Ghosh, Jessica L. Giordano, Ragnhild Glad, Ieva Grīnfelde, Dominic Gabriel Iliescu, Markus S. Ladewig, Monica Muñoz‐Torres, Marzia Pollazzon, Francesca Clementina Radio, Carlota Rodó, Raquel Gouveia Silva, Damian Smedley, Jagadish Chandrabose Sundaramurthi, Sabrina Toro, Irene Valenzuela, Nicole Vasilevsky, Ronald J. Wapner, Roni Zemet, Melissa Haendel, Peter N. Robinson

    Vydáno 2022
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  7. 7
    A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery

    A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery Autor Daniel Daniš, Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh Carmody, Leonardo Chimirri, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter Freeman, Adam S.L. Graefe, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Chris Mungall, Monica C. Munoz-Torres, Justin Reese, Filip Rehburg, Bárbara Carvalho Santos dos Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, J. Wagstaff, David Zocche, Melissa Haendel, Peter N. Robinson

    Vydáno 2024
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  8. 8
    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome Autor Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J. Edwards, Simone Afriyie, Julia Bay, Kathryn M. Harper, Alvaro A. Beltran, Lorena J. Munoz, Liset Falcon Rodriguez, Michael C. Stankewich, Richard Person, Yue Si, Elizabeth A. Normand, Amy Blevins, Alison S. May, Louise Bier, Vimla S. Aggarwal, Grazia M.S. Mancini, Marjon A. van Slegtenhorst, Kirsten Cremer, Jessica Becker, Hartmut Engels, Stefan Aretz, Jennifer MacKenzie, Eva H. Brilstra, Koen L.I. van Gassen, Richard H. van Jaarsveld, Renske Oegema, Gretchen Parsons, Paul R. Mark, Ingo Helbig, Sarah McKeown, Robert F. Stratton, Benjamin Cogné, Bertrand Isidor, Pilar Cacheiro, Damian Smedley, Helen V. Firth, Tatjana Bierhals, Katja Kloth, Deike Weiss, Cecilia Fairley, Joseph T.C. Shieh, Amy Kritzer, Parul Jayakar, Evangeline C. Kurtz‐Nelson, Raphael Bernier, Tianyun Wang, Evan E. Eichler, Ingrid M.B.H. van de Laar, Allyn McConkie‐Rosell, Marie McDonald, Jennifer L. Kemppainen, Brendan C. Lanpher, Laura Schultz‐Rogers, Lauren Gunderson, Pavel N. Pichurin, Grace Yoon, Michael Zech, Robert Jech, Juliane Winkelmann, Adriana S. Beltrán, Michael T. Zimmermann, Brenda Temple, Sheryl S. Moy, Eric W. Klee, Queenie K-G Tan, Damaris N. Lorenzo

    Vydáno 2021
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  9. 9
    Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

    Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration Autor Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini, Alessio Masi, Sophie Hambleton, Emanuela Argilli, Valerio Conti, Simone Giubbolini, Rebekah Barrick, Gaber Bergant, Karin Writzl, Emilia K. Bijlsma, Theresa Brunet, Pilar Cacheiro, Davide Mei, Anita Devlin, Mariëtte J.V. Hoffer, Keren Machol, Guido Mannaioni, Masamune Sakamoto, Manoj P. Menezes, Thomas Courtin, Elliott H. Sherr, Riccardo Parra, Ruth Richardson, Tony Roscioli, Marcello Scala, Celina von Stülpnagel, Damian Smedley, Francesca Pochiero, Francesco Mari, Venkateswaran Ramesh, Valeria Capra, Maria Margherita Mancardi, Boris Keren, C. Mignot, Matteo Lulli, Kendall C. Parks, Helen Griffin, Melanie Brugger, Vincenzo Nigro, Mitsuhiro Kato, Reiko Koichihara, Borut Peterlin, Mitsuhiro Kato, Ryuto Maki, Yohei Nitta, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Matthew A. Brown, Mark J. Caulfield, G. C. Chan, Adam Giess, John N. Griffin, Angela Hamblin, Bingyang Shi, Tim Hubbard, Robert B. Jackson, Louise J. Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, Anna Lakey, S. E. A. Leigh, I. U. S. Leong, Javier Ferreiros, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Jonathan Mitchell, Loukas Moutsianas, Michael P. Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Monica Pereira, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas

    Vydáno 2023
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  10. 10
    Human and mouse essentiality screens as a resource for disease gene discovery

    Human and mouse essentiality screens as a resource for disease gene discovery Autor Pilar Cacheiro, Violeta Muñoz‐Fuentes, Stephen A. Murray, Mary E. Dickinson, Maja Bućan, Lauryl M. J. Nutter, Kevin A. Peterson, Hamed Haselimashhadi, Ann M. Flenniken, Hugh W. Morgan, Henrik Westerberg, Tomasz Konopka, Chih‐Wei Hsu, Audrey E. Christiansen, Denise G. Lanza, Arthur L. Beaudet, Jason D. Heaney, Helmut Fuchs, Valérie Gailus‐Durner, Tania Sorg, Jan Procházka, Vendula Novosadová, Christopher J. Lelliott, Hannah Wardle‐Jones, Sara Wells, Lydia Teboul, Heather Cater, Michelle Stewart, Tertius Hough, Wolfgang Wurst, Radislav Sedláček, David J. Adams, John R. Seavitt, Glauco P. Tocchini‐Valentini, Fabio Mammano, Robert E. Braun, Colin McKerlie, Yann Hérault, Martin Hrabé de Angelis, Ann‐Marie Mallon, K. C. Kent Lloyd, Steve D. M. Brown, Helen Parkinson, Terrence F. Meehan, Damian Smedley, J. C. Ambrose, P. Arumugam, E. L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, H. Brittain, Mark J. Caulfield, Gcf Chan, C. E. H. Craig, Louise C. Daugherty, A. de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, P. Furió-Tarí, J.M. Hackett, Dina Halai, Angela Hamblin, Seton Henderson, J. E. Holman, Tim Hubbard, Kristina Ibáñez, Richard V. Jackson, Lesley Jones, Dalia Kasperavičiūtė, M. Kayikci, L. Lahnstein, Kim Lawson, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, L. Moutsianas, Michael Mueller, Nirupa Murugaesu, A. C. Need, Christopher A. Odhams, C. Patch, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Álvaro Rendón, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, K Savage, K. Sawant, Richard H. Scott, A. Siddiq

    Vydáno 2020
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