A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

Autor: Danis, Daniel, Bamshad, Michael J., Bridges, Yasemin, Caballero-Oteyza, Andrés, Cacheiro, Pilar, Carmody, Leigh C., Chimirri, Leonardo, Chong, Jessica X., Coleman, Ben, Dalgleish, Raymond, Freeman, Peter J., Graefe, Adam S.L., Groza, Tudor, Hansen, Peter, Jacobsen, Julius O.B., Klocperk, Adam, Kusters, Maaike, Ladewig, Markus S., Marcello, Anthony J., Mattina, Teresa, Mungall, Christopher J., Munoz-Torres, Monica C., Reese, Justin T., Rehburg, Filip, Reis, Bárbara C.S., Schuetz, Catharina, Smedley, Damian, Strauss, Timmy, Sundaramurthi, Jagadish Chandrabose, Thun, Sylvia, Wissink, Kyran, Wagstaff, John F., Zocche, David, Haendel, Melissa A., Robinson, Peter N.

Publikováno v: In Human Genetics and Genomics Advances 9 January 2025 6(1)

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

Autor: Pochiero, Francesca, Mari, Francesco, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Brugger, Melanie, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B., Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, 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, 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

Publikováno v: In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376

Essential genes: a cross-species perspective.

Autor: Cacheiro, Pilar¹ (AUTHOR), Smedley, Damian¹ (AUTHOR) d.smedley@qmul.ac.uk

Publikováno v: Mammalian Genome. Sep2023, Vol. 34 Issue 3, p357-363. 7p.

Mendelian gene identification through mouse embryo viability screening.

Autor: Cacheiro, Pilar¹ (AUTHOR), Westerberg, Carl Henrik² (AUTHOR), Mager, Jesse³ (AUTHOR), Dickinson, Mary E.^4,5 (AUTHOR), Nutter, Lauryl M. J.⁶ (AUTHOR), Muñoz-Fuentes, Violeta⁷ (AUTHOR), Hsu, Chih-Wei^4,8 (AUTHOR), Van den Veyver, Ignatia B.^5,9 (AUTHOR), Flenniken, Ann M.¹⁰ (AUTHOR), McKerlie, Colin⁶ (AUTHOR), Murray, Stephen A.¹¹ (AUTHOR), Teboul, Lydia¹² (AUTHOR), Heaney, Jason D.⁵ (AUTHOR), Lloyd, K. C. Kent¹³ (AUTHOR), Lanoue, Louise¹³ (AUTHOR), Braun, Robert E.¹¹ (AUTHOR), White, Jacqueline K.¹¹ (AUTHOR), Creighton, Amie K.⁶ (AUTHOR), Laurin, Valerie⁶ (AUTHOR), Guo, Ruolin¹⁰ (AUTHOR)

Publikováno v: Genome Medicine. 10/13/2022, Vol. 14 Issue 1, p1-20. 20p.

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