Essential genes: a cross-species perspective

por Cacheiro, Pilar, Smedley, Damian
Publicado 2023

New models for human disease from the International Mouse Phenotyping Consortium

por Cacheiro, Pilar, Haendel, Melissa A., Smedley, Damian
Publicado 2019

Knockout mice are an important tool for human monogenic heart disease studies

por Cacheiro, Pilar, Spielmann, Nadine, Mashhadi, Hamed Haseli, Fuchs, Helmut, Gailus-Durner, Valerie, Smedley, Damian, de Angelis, Martin Hrabĕ
Publicado 2023

‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

por García-Murias, María, Quintáns, Beatriz, Arias, Manuel, Seixas, Ana I., Cacheiro, Pilar, Tarrío, Rosa, Pardo, Julio, Millán, María J., Arias-Rivas, Susana, Blanco-Arias, Patricia, Dapena, Dolores, Moreira, Ramón, Rodríguez-Trelles, Francisco, Sequeiros, Jorge, Carracedo, Ángel, Silveira, Isabel, Sobrido, María J.
Publicado 2012

The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease

por Groza, Tudor, Gomez, Federico Lopez, Mashhadi, Hamed Haseli, Muñoz-Fuentes, Violeta, Gunes, Osman, Wilson, Robert, Cacheiro, Pilar, Frost, Anthony, Keskivali-Bond, Piia, Vardal, Bora, McCoy, Aaron, Cheng, Tsz Kwan, Santos, Luis, Wells, Sara, Smedley, Damian, Mallon, Ann-Marie, Parkinson, Helen
Publicado 2022

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

por Muñoz-Fuentes, Violeta, Cacheiro, Pilar, Meehan, Terrence F., Aguilar-Pimentel, Juan Antonio, Brown, Steve D. M., Flenniken, Ann M., Flicek, Paul, Galli, Antonella, Mashhadi, Hamed Haseli, Hrabě de Angelis, Martin, Kim, Jong Kyoung, Lloyd, K. C. Kent, McKerlie, Colin, Morgan, Hugh, Murray, Stephen A., Nutter, Lauryl M. J., Reilly, Patrick T., Seavitt, John R., Seong, Je Kyung, Simon, Michelle, Wardle-Jones, Hannah, Mallon, Ann-Marie, Smedley, Damian, Parkinson, Helen E.
Publicado 2018

Mendelian gene identification through mouse embryo viability screening

por Cacheiro, Pilar, Westerberg, Carl Henrik, Mager, Jesse, Dickinson, Mary E., Nutter, Lauryl M. J., Muñoz-Fuentes, Violeta, Hsu, Chih-Wei, Van den Veyver, Ignatia B., Flenniken, Ann M., McKerlie, Colin, Murray, Stephen A., Teboul, Lydia, Heaney, Jason D., Lloyd, K. C. Kent, Lanoue, Louise, Braun, Robert E., White, Jacqueline K., Creighton, Amie K., Laurin, Valerie, Guo, Ruolin, Qu, Dawei, Wells, Sara, Cleak, James, Bunton-Stasyshyn, Rosie, Stewart, Michelle, Harrisson, Jackie, Mason, Jeremy, Haseli Mashhadi, Hamed, Parkinson, Helen, Mallon, Ann-Marie, Smedley, Damian
Publicado 2022

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

por Dhombres, Ferdinand, Morgan, Patricia, Chaudhari, Bimal P., Filges, Isabel, Sparks, Teresa N., Lapunzina, Pablo, Roscioli, Tony, Agarwal, Umber, Aggarwal, Shagun, Beneteau, Claire, Cacheiro, Pilar, Carmody, Leigh C., Collardeau‐Frachon, Sophie, Dempsey, Esther A., Dufke, Andreas, Duyzend, Michael Henri, el Ghosh, Mirna, Giordano, Jessica L., Glad, Ragnhild, Grinfelde, Ieva, Iliescu, Dominic G., Ladewig, Markus S., Munoz‐Torres, Monica C., Pollazzon, Marzia, Radio, Francesca Clementina, Rodo, Carlota, Silva, Raquel Gouveia, Smedley, Damian, Sundaramurthi, Jagadish Chandrabose, Toro, Sabrina, Valenzuela, Irene, Vasilevsky, Nicole A., Wapner, Ronald J., Zemet, Roni, Haendel, Melissa A, Robinson, Peter N.
Publicado 2022

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

por Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Koichihara, Reiko, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, Guerrini, Renzo
Publicado 2023

Human and mouse essentiality screens as a resource for disease gene discovery

por Cacheiro, Pilar, Muñoz-Fuentes, Violeta, Murray, Stephen A., Dickinson, Mary E., Bucan, Maja, Nutter, Lauryl M. J., Peterson, Kevin A., Haselimashhadi, Hamed, Flenniken, Ann M., Morgan, Hugh, Westerberg, Henrik, Konopka, Tomasz, Hsu, Chih-Wei, Christiansen, Audrey, Lanza, Denise G., Beaudet, Arthur L., Heaney, Jason D., Fuchs, Helmut, Gailus-Durner, Valerie, Sorg, Tania, Prochazka, Jan, Novosadova, Vendula, Lelliott, Christopher J., Wardle-Jones, Hannah, Wells, Sara, Teboul, Lydia, Cater, Heather, Stewart, Michelle, Hough, Tertius, Wurst, Wolfgang, Sedlacek, Radislav, Adams, David J., Seavitt, John R., Tocchini-Valentini, Glauco, Mammano, Fabio, Braun, Robert E., McKerlie, Colin, Herault, Yann, de Angelis, Martin Hrabě, Mallon, Ann-Marie, Lloyd, K. C.  Kent, Brown, Steve D. M., Parkinson, Helen, Meehan, Terrence F., Smedley, Damian
Publicado 2020

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

por Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Rodriguez, Liset Falcon, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.
Publicado 2021