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收藏TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care projectTREAT：Screen4Care项目框架下的基因组新生儿筛查基因的系统性及包容性选择流程
Saier, Christina; Sansen, Stefaan; Berghout, Joanne; Freyler, Kathrin; Einhorn, Moshe; Einhorn, Yaron; Matalonga, Leslie; Beltran, Sergi; Novelli, Antonio; Selvatici, Rita; Fortunato, Fernanda; Montanari, Silvia; Martinez-Fresno, Maria; Gumus, Gulcin; Agolini, Emanuele; Garnier, Nicolas; Ferlini, Alessandra; Bertini, Enrico; Kirschner, Janbernd 分享 收藏 Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle显性肌溶解症与复发ATP2A2变异相关，该变异降低了肌肉中SERCA2的功能Malaichamy, Sivasankar; Idoux, Romane; Polavarapu, Kiran; Sikic, Katarina; Holla, Elisa; Thompson, Rachel; Spendiff, Sally; Schaenzer, Anne; Kuesters, Benno; Freeman, Emily; Hentschel, Andreas; O'Neil, Daniel; Carmona-Martinez, Ricardo; Dobelmann, Vera; Tucht, Calvin; Schouten, Meyke; Ruck, Tobias; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Ramadza, Danijela Petkovic; Jakovcevic, Antonia; Zigman, Tamara; Cavka, Mislav; Karcagi, Veronika; Herczegfalvi, Agnes; Laurie, Steven; Matalonga, Leslie; Beltran, Sergi; Horvath, Rita; Voermans, Nicol; Roos, Andreas; Baric, Ivo; Lochmueller, Hanns 分享 收藏 Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases (27 Sept, 10.1038/s41431-024-01699-4, 2024)Estevez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-Garcia, Laura; Exposito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknarova, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yepez, Vicente A.; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmueller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Benito, Daniel Natera-de 分享 收藏 Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseasesEstevez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-Garcia, Laura; Exposito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknarova, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yepez, Vicente A.; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmueller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Natera-de Benito, Daniel 分享 收藏 An interconnected data infrastructure to support large-scale rare disease research支持大规模罕见病研究的互联数据基础设施Johansson, Lennart F.; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Coline; Piscia, Davide; de Andrade, Fernanda; Been, Gerieke; Bijlsma, Marieke; Brunner, Han; Cimerman, Sandi; Dizjikan, Farid Yavari; Ellwanger, Kornelia; Fernandez, Marcos; Freeberg, Mallory; van de Geijn, Gert-Jan; Kanninga, Roan; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Neerincx, Pieter; Ossowski, Stephan; Rath, Ana; Roelofs-Prins, Dieuwke; Stok-Benjamins, Marloes; van der Velde, K. Joeri; Veal, Cohn; van der Vries, Gerben; Wadsley, Marc; Warren, Gregory; Zurek, Birte; Keane, Thomas; Graessner, Holm; Beltran, Sergi; Swertz, Morris A.; Brookes, Anthony J. 分享 收藏 Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital MyopathyEstevez-Arias, Berta; Matalonga, Leslie; Martorell, Loreto; Codina, Anna; Ortez, Carlos; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Yubero, Delia; Hoenicka, Janet; Jou, Cristina; Palau, Francesc; Beltran, Sergi; Lochmuller, Hanns; Topf, Ana; Nascimento, Andres; Natera-de Benito, Daniel 分享 收藏 Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic SyndromesNunez-Carpintero, Iker; Rigau, Maria; Bosio, Mattia; O'Connor, Emily; Spendiff, Sally; Azuma, Yoshiteru; Topf, Ana; Thompson, Rachel; 't Hoen, Peter A. C.; Chamova, Teodora; Tournev, Ivailo; Guergueltcheva, Velina; Laurie, Steven; Beltran, Sergi; Capella-Gutierrez, Salvador; Cirillo, Davide; Lochmueller, Hanns; Valencia, Alfonso 分享 收藏 Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological reportLagorce, David; Lebreton, Emeline; Matalonga, Leslie; Hongnat, Oscar; Chahdil, Maroua; Piscia, Davide; Paramonov, Ida; Ellwanger, Kornelia; Koehler, Sebastian; Robinson, Peter; Graessner, Holm; Beltran, Sergi; Lucano, Caterina; Hanauer, Marc; Rath, Ana 分享 收藏 Quantification of rare somatic single nucleotide variants by droplet digital PCR using SuperSelective primersPablo-Fontecha, Veronica; Hernandez-Illan, Eva; Reparaz, Andrea; Asensio, Elena; Morata, Jordi; Tonda, Raul; Lahoz, Sara; Parra, Carolina; Jose Lozano, Juan; Garcia-Heredia, Anabel; Martinez-Roca, Alejandro; Beltran, Sergi; Balaguer, Francesc; Jover, Rodrigo; Castells, Antoni; Trullas, Ramon; Podlesniy, Petar; Camps, Jordi 分享 收藏 Wnt genes in colonic polyposis predispositionQuintana, Isabel; Terradas, Mariona; Mur, Pilar; te Paske, Iris B. A. W.; Peters, Sophia; Spier, Isabel; Steinke-Lange, Verena; Maestro, Claudia; Torrents, David; Puiggros, Montserrat; Royo, Romina; Tonda, Raul; Parra, Genis; Piscia, Davide; Beltran, Sergi; Navarro, Matilde; Pinol, Virginia; Brunet, Joan; Gonzalez-Abuin, Noemi; Aiza, Gemma; Sommer, Anna; van Herwaarden, Yasmijn; Astuti, Galuh; Holinski-Feder, Elke; Hoogerbrugge, Nicoline; de Voer, Richarda M.; Aretz, Stefan; Capella, Gabriel; Valle, Laura 分享 收藏 Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseasesCorvo, Alberto; Matalonga, Leslie; Spalding, Dylan; Senf, Alexander; Laurie, Steven; Pico-Amador, Daniel; Fernandez-Callejo, Marcos; Paramonov, Ida; Romero, Anna Foix; Garcia-Rios, Emilio; Ciges, Jorge Izquierdo; Mohan, Anand; Thomas, Coline; Valencia, Andres Felipe Silva; Halmagyi, Csaba; Freeberg, Mallory Ann; Topf, Ana; Horvath, Rita; Saunders, Gary; Gut, Ivo; Keane, Thomas; Piscia, Davide; Beltran, Sergi 分享 收藏 Position paper on management of personal data in environment and health research in EuropeEva, Govarts; Liese, Gilles; Stephanie, Bopp; Petr, Holub; Leslie, Matalonga; Roel, Vermeulen; Martine, Vrijheid; Sergi, Beltran; Mette, Hartlev; Sarah, Jones; Laura, Rodriguez Martin; Arnout, Standaert; Morris, Swertz A.; Jan, Theunis; Xenia, Trier; Nina, Vogel; Koert, Van Espen; Sylvie, Remy; Greet, Schoeters 分享 收藏 The GA4GH Phenopacket schema defines a computable representation of clinical dataJacobsen, Julius O. B.; Baudis, Michael; Baynam, Gareth S.; Beckmann, Jacques S.; Beltran, Sergi; Buske, Orion J.; Callahan, Tiffany J.; Chute, Christopher G.; Courtot, Melanie; Danis, Daniel; Elemento, Olivier; Essenwanger, Andrea; Freimuth, Robert R.; Gargano, Michael A.; Groza, Tudor; Hamosh, Ada; Harris, Nomi L.; Kaliyaperumal, Rajaram; Lloyd, Kevin C. Kent; Khalifa, Aly; Krawitz, Peter M.; Koeler, Sebastian; Laraway, Brian J.; Lehvaslaiho, Heikki; Matalonga, Leslie; McMurry, Julie A.; Metke-Jimenez, Alejandro; Mungall, Christopher J.; Munoz-Torres, Monica C.; Ogishima, Soichi; Papakonstantinou, Anastasios; Piscia, Davide; Pontikos, Nikolas; Queralt-Rosinach, Nuria; Roos, Marco; Sass, Julian; Schofield, Paul N.; Seelow, Dominik; Siapos, Anastasios; Smedley, Damian; Smith, Lindsay D.; Steinhaus, Robin; Sundaramurthi, Jagadish Chandrabose; Swietlik, Emilia M.; Thun, Sylvia; Vasilevsky, Nicole A.; Wagner, Alex H.; Warner, Jeremy L.; Weiland, Claus; Haendel, Melissa A.; Robinson, Peter N. 分享 收藏 Recommendations for whole genome sequencing in diagnostics for rare diseasesSouche, Erika; Beltran, Sergi; Brosens, Erwin; Belmont, John W.; Fossum, Magdalena; Riess, Olaf; Gilissen, Christian; Ardeshirdavani, Amin; Houge, Gunnar; van Gijn, Marielle; Clayton-Smith, Jill; Synofzik, Matthis; de Leeuw, Nicole; Deans, Zandra C.; Dincer, Yasemin; Eck, Sebastian H.; van eer Crabben, Saskia; Balasubramanian, Meena; Graessner, Holm; Sturm, Marc; Firth, Helen; Ferlini, Alessandra; Nabbout, Rima; De Baere, Elfride; Liehr, Thomas; Macek, Milan; Matthijs, Gert; Scheffer, Hans; Bauer, Peter; Yntema, Helger G.; Weiss, Marjan M. 分享 收藏 Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare DiseasesBullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Artuch, Rafael; Gallano, Pia; Garrabou, Gloria; Gonzalez, Juan R.; Grinberg, Daniel; Guitart, Miriam; Laurie, Steven; Lazaro, Conxi; Luengo, Cristina; Marti, Ramon; Mila, Montserrat; Ovelleiro, David; Parra, Genis; Pujol, Aurora; Tizzano, Eduardo; Macaya, Alfons; Palau, Francesc; Ribes, Antonia; Perez-Jurado, Luis A.; Beltran, Sergi 分享 收藏 Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven PrioritizationSchluter, Agatha; Rodriguez-Palmero, Agusti; Verdura, Edgard; Velez-Santamaria, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas-Serra, Laura; Jose Martinez, Juan; Guilera, Cristina; Giros, Marisa; Artuch, Rafael; Yoldi, Maria Eugenia; O'Callaghan, Mar; Garcia-Cazorla, Angels; Armstrong, Judith; Marti, Itxaso; Mondragon Rezola, Elisabet; Redin, Claire; Louis Mandel, Jean; Conejo, David; Sierra-Corcoles, Concepcion; Beltran, Sergi; Gut, Marta; Vazquez, Elida; Del Toro, Mireia; Troncoso, Monica; Perez-Jurado, Luis A.; Gutierrez-Solana, Luis G.; Lopez de Munain, Adolfo; Casasnovas, Carlos; Aguilera-Albesa, Sergio; Macaya, Alfons; Pujol, Aurora 分享 收藏 The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseasesLaurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvo, Alberto; Fernandez-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martinez, Ines; Papakonstantinou, Anastasios; Pico-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayes, Monica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Alonso, Angel; Attimonelli, Marcella; Beroud, Christophe; Bros-Facer, Virginie; Buske, Orion J.; Canada-Pallares, Andres; Fernandez, Jose M.; Hansson, Mats G.; Horvath, Rita; Jacobsen, Julius O. B.; Kaliyaperumal, Rajaram; Lair-Preterre, Severine; Licata, Luana; Lopes, Pedro; Lopez-Martin, Estrella; Mascalzoni, Deborah; Monaco, Lucia; Perez-Jurado, Luis A.; Posada de la Paz, Manuel; Rambla, Jordi; Rath, Ana; Riess, Olaf; Robinson, Peter N.; Salgado, David; Smedley, Damian; Spalding, Dylan; 't Hoen, Peter A. C.; Topf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G.; Lochmuller, Hanns; Beltran, Sergi 分享 收藏 High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseasesKurul, Semra Hiz; Oktay, Yavuz; Topf, Ana; Szabo, Nora Zs; Gungor, Serdal; Yaramis, Ahmet; Sonmezler, Ece; Matalonga, Leslie; Yis, Uluc; Schon, Katherine; Paramonov, Ida; Kalafatcilar, Ipek Polat; Gao, Fei; Rieger, Aliz; Arslan, Nur; Yilmaz, Elmasnur; Ekinci, Burcu; Edem, Pinar Pulat; Aslan, Mahmut; Ozgor, Bilge; Lochmuller, Angela; Nair, Ashwati; O'Heir, Emily; Lovgren, Alysia K.; Maroofian, Reza; Houlden, Henry; Polavarapu, Kiran; Roos, Andreas; Muller, Juliane S.; Hathazi, Denisa; Chinnery, Patrick F.; Laurie, Steven; Beltran, Sergi; Lochmueller, Hanns; Horvath, Rita 分享 收藏 GA4GH: International policies and standards for data sharing across genomic research and healthcareGA4GH: 跨基因组研究和医疗保健的数据共享的国际政策和标准Rehm, Heidi L.; Page, Angela J. H.; Smith, Lindsay; Adams, Jeremy B.; Alterovitz, Gil; Babb, Lawrence J.; Barkley, Maxmillian P.; Baudis, Michael; Beauvais, Michael J. S.; Beck, Tim; Beckmann, Jacques S.; Beltran, Sergi; Bernick, David; Bernier, Alexander; Bonfield, James K.; Boughtwood, Tiffany F.; Bourque, Guillaume; Bowers, Sarion R.; Brookes, Anthony J.; Brudno, Michael; Brush, Matthew H.; Bujold, David; Burdett, Tony; Buske, Orion J.; Cabili, Moran N.; Cameron, Daniel L.; Carroll, Robert J.; Casas-Silva, Esmeralda; Chakravarty, Debyani; Chaudhari, Bimal P.; Chen, Shu Hui; Cherry, J. Michael; Chung, Justina; Cline, Melissa; Clissold, Hayley L.; Cook-Deegan, Robert M.; Courtot, Melanie; Cunningham, Fiona; Cupak, Miro; Davies, Robert M.; Denisko, Danielle; Doerr, Megan J.; Dolman, Lena I.; Dove, Edward S.; Dursi, L. Jonathan; Dyke, Stephanie O. M.; Eddy, James A.; Eilbeck, Karen; Ellrott, Kyle P.; Fairley, Susan; Fakhro, Khalid A.; Firth, Helen V.; Fitzsimons, Michael S.; Fiume, Marc; Flicek, Paul; Fore, Ian M.; Freeberg, Mallory A.; Freimuth, Robert R.; Fromont, Lauren A.; Fuerth, Jonathan; Gaff, Clara L.; Gan, Weiniu; Ghanaim, Elena M.; Glazer, David; Green, Robert C.; Griffith, Malachi; Griffith, Obi L.; Grossman, Robert L.; Groza, Tudor; Auvil, Jaime M. Guidry; Guigo, Roderic; Gupta, Dipayan; Haendel, Melissa A.; Hamosh, Ada; Hansen, David P.; Hart, Reece K.; Hartley, Dean Mitchell; Haussler, David; Hendricks-Sturrup, Rachele M.; Ho, Calvin W. L.; Hobb, Ashley E.; Hoffman, Michael M.; Hofmann, Oliver M.; Holub, Petr; Hsu, Jacob Shujui; Hubaux, Jean-Pierre; Hunt, Sarah E.; Husami, Ammar; Jacobsen, Julius O.; Jamuar, Saumya S.; Janes, Elizabeth L.; Jeanson, Francis; Jene, Aina; Johns, Amber L.; Joly, Yann; Jones, Steven J. M.; Kanitz, Alexander; Kato, Kazuto; Keane, Thomas M.; Kekesi-Lafrance, Kristina; Kelleher, Jerome; Kerry, Giselle; Khor, Seik-Soon; Knoppers, Bartha M.; Konopko, Melissa A.; Kosaki, Kenjiro; Kuba, Martin; Lawson, Jonathan; Leinonen, Rasko; Li, Stephanie; Lin, Michael F.; Linden, Mikael; Liu, Xianglin; Liyanage, Isuru Udara; Lopez, Javier; Lucassen, Anneke M.; Lukowski, Michael; Mann, Alice L.; Marshall, John; Mattioni, Michele; Metke-Jimenez, Alejandro; Middleton, Anna; Milne, Richard J.; Molnar-Gabor, Fruzsina; Mulder, Nicola; Munoz-Torres, Monica C.; Nag, Rishi; Nakagawa, Hidewaki; Nasir, Jamal; Navarro, Arcadi; Nelson, Tristan H.; Niewielska, Ania; Nisselle, Amy; Niu, Jeffrey; Nyronen, Tommi H.; O'Connor, Brian D.; Oesterle, Sabine; Ogishima, Soichi; Wang, Vivian Ota; Paglione, Laura A. D.; Palumbo, Emilio; Parkinson, Helen E.; Philippakis, Anthony A.; Pizarro, Angel D.; Prlic, Andreas; Rambla, Jordi; Rendon, Augusto; Rider, Renee A.; Robinson, Peter N.; Rodarmer, Kurt W.; Rodriguez, Laura Lyman; Rubin, Alan F.; Rueda, Manuel; Rushton, Gregory A.; Ryan, Rosalyn S.; Saunders, Gary I.; Schuilenburg, Helen; Schwede, Torsten; Scollen, Serena; Senf, Alexander; Sheffield, Nathan C.; Skantharajah, Neerjah; Smith, Albert V.; Sofia, Heidi J.; Spalding, Dylan; Spurdle, Amanda B.; Stark, Zornitza; Stein, Lincoln D.; Suematsu, Makoto; Tan, Patrick; Tedds, Jonathan A.; Thomson, Alastair A.; Thorogood, Adrian; Tickle, Timothy L.; Tokunaga, Katsushi; Tomroos, Juha; Torrents, David; Upchurch, Sean; Valencia, Alfonso; Guimera, Roman Valls; Vamathevan, Jessica; Varma, Susheel; Vears, Danya F.; Viner, Coby; Voisin, Craig; Wagner, Alex H.; Wallace, Susan E.; Walsh, Brian P.; Williams, Marc S.; Winkler, Eva C.; Wold, Barbara J.; Wood, Grant M.; Woolley, J. Patrick; Yamasaki, Chisato; Yates, Andrew D.; Yung, Christina K.; Zass, Lyndon J.; Zaytseva, Ksenia; Zhang, Junjun; Goodhand, Peter; North, Kathryn; Birney, Ewan 分享 收藏 
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