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المؤلفون: Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth E. Blue, Lisa H. Chadwick, Zeynep H. Coban-Akdemir, Kimberly F. Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell-Luria, Marcia Adams, François Aguet, Gulsen Akay, Peter Anderson, Corina Antonescu, Harindra M. Arachchi, Mehmed M. Atik, Christina A. Austin-Tse, Larry Babb, Tamara J. Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilguvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel Calame, Ian M. Campbell, Xiaolong Cao, Claudia Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Ivan K. Chinn, Declan Clarke, Ryan L. Collins, Beryl Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie P. DiTroia, Harshavardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid Fatih, Adam Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay S. Ganesh, Kiran V. Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga-Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif O. Harmanci, Isabella Herman, Kurt Hetrick, Hadia Hijazi, Martha Horike-Pyne, Elvin Hsu, Jianhong Hu, Yongqing Huang, Jameson R. Hurless, Steve Jahl, Gail P. Jarvik, Yunyun Jiang, Eric Johanson, Angad Jolly, Ender Karaca, Michael Khayat, James Knight, J. Thomas Kolar, Sushant Kumar, Seema Lalani, Kristen M. Laricchia, Kathryn E. Larkin, Suzanne M. Leal, Gabrielle Lemire, Richard A. Lewis, He Li, Hua Ling, Rachel B. Lipson, Pengfei Liu, Alysia Kern Lovgren, Francesc López-Giráldez, Melissa P. MacMillan, Brian E. Mangilog, Stacy Mano, Dana Marafi, Beth Marosy, Jamie L. Marshall, Renan Martin, Colby T. Marvin, Michelle Mawhinney, Sean McGee, Daniel J. McGoldrick, Michelle Mehaffey, Betselote Mekonnen, Xiaolu Meng, Tadahiro Mitani, Christina Y. Miyake, David Mohr, Shaine Morris, Thomas E. Mullen, David R. Murdock, Mullai Murugan, Donna M. Muzny, Ben Myers, Juanita Neira, Kevin K. Nguyen, Patrick M. Nielsen, Natalie Nudelman, Emily O’Heir, Melanie C. O’Leary, Chrissie Ongaco, Jordan Orange, Ikeoluwa A. Osei-Owusu, Ingrid S. Paine, Lynn S. Pais, Justin Paschall, Karynne Patterson, Davut Pehlivan, Benjamin Pelle, Samantha Penney, Jorge Perez de Acha Chavez, Emma Pierce-Hoffman, Cecilia M. Poli, Jaya Punetha, Aparna Radhakrishnan, Matthew A. Richardson, Eliete Rodrigues, Gwendolin T. Roote, Jill A. Rosenfeld, Erica L. Ryke, Aniko Sabo, Alice Sanchez, Isabelle Schrauwen, Daryl A. Scott, Fritz Sedlazeck, Jillian Serrano, Chad A. Shaw, Tameka Shelford, Kathryn M. Shively, Moriel Singer-Berk, Joshua D. Smith, Hana Snow, Grace Snyder, Matthew Solomonson, Rachel G. Son, Xiaofei Song, Pawel Stankiewicz, Taylorlyn Stephan, V. Reid Sutton, Abigail Sveden, Diana Cornejo Sánchez, Monica Tackett, Michael Talkowski, Machiko S. Threlkeld, Grace Tiao, Miriam S. Udler, Laura Vail, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Gao Wang, Lu Wang, Michael F. Wangler, Nicholas A. Watts, Ben Weisburd, Jeffrey M. Weiss, Marsha M. Wheeler, Janson J. White, Clara E. Williamson, Michael W. Wilson, Wojciech Wiszniewski, Marjorie A. Withers, Dane Witmer, Lauren Witzgall, Elizabeth Wohler, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Nan Wu, Jinchuan Xing, Yaping Yang, Qian Yi, Bo Yuan, Jordan E. Zeiger, Chaofan Zhang, Peng Zhang, Yan Zhang, Xiaohong Zhang, Yeting Zhang, Shifa Zhang, Huda Zoghbi, Igna van den Veyver
المصدر: Genet Med
مصطلحات موضوعية: Phenotype, Exome Sequencing, Humans, Exome, Genomics, Article, Genetic Association Studies, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b797c7738329d28c572a5aa99b98ff15Test
https://doi.org/10.1016/j.gim.2021.12.005Test -
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المؤلفون: Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina M. England, Kristen M. Laricchia, Thomas Mullen, Elise Valkanas, Liwen Xu, Marta Bertoli, Alison Blain, Ana B. Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso-Pérez, Jonathan Baets, Nina Barisic, Alexandra Bastian, Sabine Borell, Teodora Chamova, Kristl Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem de Ridder, Jordi Díaz-Manera, Cristina Domínguez-González, Alexis Duncan, Hacer Durmus, Nagia A. Fahmy, Maria Elena Farrugia, Roberto Fernández-Torrón, Lidia Gonzalez-Quereda, Jana Haberlova, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, Ivonne Jerico Pascual, Solange Kapetanovic, Viktorija Kenina, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera-Pruszczyk, Richa Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munain, Wolfgang Loscher, Anna Lusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, Andrés Nascimento, Shahriar Nafissi, Shirin Omidi, Carlos Ortez, Stéphanie Paquay, Yann Pereon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, Iciar Sanchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang-Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan Vílchez, Katharina Vill, John Vissing, Carina Wallgren-Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub
المساهمون: MYO-SEQ Consortium, HUSLAB, HUS Children and Adolescents, Clinicum, Medicum, Claeys, Kristl
المصدر: Genetics in medicine
Genetics in Medicine
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: 0301 basic medicine, targeted exome analysis, Neuromuscular disease, Medizin, Anoctamins, 030105 genetics & heredity, Bioinformatics, 3124 Neurology and psychiatry, DNA sequencing, Article, 03 medical and health sciences, genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, 3123 Gynaecology and paediatrics, Exome Sequencing, Medicine, Humans, Exome, Gene, Genetics (clinical), Exome sequencing, SGCA, RYR1, Genetic heterogeneity, business.industry, Sciences bio-médicales et agricoles, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Glucosyltransferases, Human medicine, business
وصف الملف: 1 full-text file(s): application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb0b77bdff412d8ddab3c132a95c157Test
https://repository.uantwerpen.be/docstore/d:irua:4405Test -
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المؤلفون: Melissa A. Haendel, Cornelius F. Boerkoel, Nicole L. Washington, Murat Sincan, William A. Gahl, Christopher J. Mungall, David W. Draper, Amanda E. Links, Heather Trang, Ariane Soldatos, Lynne A. Wolfe, Nicole Vasilevsky, William P. Bone, Elizabeth M. J. Lee, Michael Brudno, Elise D. Flynn, Peter N. Robinson, Catherine Groden, Colleen E. Wahl, Marta Girdea, Orion J. Buske, Damian Smedley, Julius O.B. Jacobsen, Rena A. Godfrey, Michele Nehrebecky, David R. Adams, Elise Valkanas, Sebastian Köhler, Gretchen Golas, Cynthia J. Tifft, Thomas C. Markello, Camilo Toro, Joie Davis
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, Patients, phenotype, ved/biology.organism_classification_rank.species, model organisms, 03 medical and health sciences, Mice, Data sequences, Rare Diseases, Databases, Genetic, Exome Sequencing, Medicine, Animals, Humans, Exome, Original Research Article, Model organism, Genetics (clinical), Exome sequencing, Genetic Association Studies, Zebrafish, Genetics, business.industry, ved/biology, Extramural, Computational Biology, Genetic Variation, Phenotype, undiagnosed diseases, United States, 3. Good health, Disease Models, Animal, 030104 developmental biology, semantic comparison, National Institutes of Health (U.S.), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c81ae459c26c21044b1ae811370320eTest
http://europepmc.org/articles/PMC4916229Test