Accès ouvert déclaré 2024 article

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

David Pellerin, Giulia Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung, Isaac Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos‐Rodrigues, Igor Stevanovski, Carolin K. Scriba, Adriana Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril Peter, Dan Hasson, Nadejda M. Tsankova, Ken Dewar, Phillipa J. Lamont, Nigel G. Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, André Nussenzweig, Марек Напиерала, Zhao Chen, Hong Jiang, Ira W. Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A. Eberle, Kym M. Boycott, Tomi Pastinen, Emily Bateman, Chelsea Berngruber, Fabio Cunial, Colleen Davis, Huyen Dinh, HarshaVardhan Doddapaneni, Kim K. Doheny, Shannon Dugan‐Perez, Tara Dutka, Evan E. Eichler, Philip E. Empey, Sarah Fazal, Chris Frazar, Kiran Garimella, Jessica Gearhart, Richard C. Gibbs, Jane Grimwood, Namrata Gupta, Salina K. Hall, Yi Han, William T. Harvey, Jess Hosea, PingHsun Hsieh, Jianhong Hu, Yongqing Huang, James C. M. Hwang, Michal Izydorczyk, Hyeonsoo Jeong, Ziad Khan, Sarah Kirkpatrick, Michelle Kokosinski, Sam Kovaka, Edibe Nehir Kurtas, Rebecca Lakatos, Emily L. LaPlante, Samuel K. Lee, Niall J. Lennon, Shawn Levy, Qiuhui Li, Lee Lichtenstein, Glennis A. Logsdon, Chris Lord, Ryan Lorig-Roach, Medhat Madmoud, Anant Maheshwari, Beth Marosy, Heer H. Mehta, Ginger Metcalf, David W. Mohr, Carolina Montaño, Luke B Morina, Yulia Mostovoy, Anjene Musick, Donna M. Muzny, Shane Neph, Justin Paschall, Karynne Patterson, A. Pionzio, David Porubskỳ, Nripesh Prasad, Allison N. Rozanski, Alba Sanchis-Juan, Michael C. Schatz, Sophie Schwartz, Alan F. Scott, Adriana E. Sedeño-Cortés, Fritz J. Sedlazeck, Tristan Shaffer, Hua Shen, Beri Shifaw, Joshua D. Smith, Natthapon Soisangwan, Andrew B. Stergachis, Hang Su, Michael E. Talkowski, Winston Timp, Vanesa Vee, Evie Wan, Yuanyuan Wang, George Weissenberger, Julie Wertz, Marsha M. Wheeler, Christopher W. Whelan, DongAhn Yoo, Shadi Zaheri, Xinchang Zheng, Yiming Zhu, Michelle Zilka, Bernard Brais, Stephan Züchner, Matt C. Danzi

37Citations signalées, ce qui n’est pas une note de qualité

46Institutions déclarées

7Pays d’affiliation déclarés

Rattachement africain : ca, gb, us, au, fr, de, cn. Niveau de preuve : code pays fourni par la source.

Résumé indisponible. Les résultats de l’étude ne doivent pas être déduits de son seul titre.

Le contrôle bibliographique ouvert

DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref: A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
Date Crossref: 27/06/2024
Éditeur: Springer Science and Business Media LLC
Type: journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.

Les institutions déclarées

Montreal Neurological Institute and Hospital National Hospital for Neurology and Neurosurgery University College London McGill University University of Ottawa Children's Hospital of Eastern Ontario University of Toronto Hospital for Sick Children SickKids Foundation Pacific Biosciences (United States)Allen Institute for Brain Science University of California, Los Angeles Icahn School of Medicine at Mount Sinai Children's Mercy Hospital University of Miami Dr. John T. Macdonald Foundation National Human Genome Research Institute National Cancer Institute Garvan Institute of Medical Research Murdoch Children's Research Institute The University of Western Australia Harry Perkins Institute of Medical Research Inserm Nutrition-Génétique et Exposition aux Risques Environnementaux Université de Lorraine Royal Perth Hospital Centre Hospitalier Régional et Universitaire de Nancy German Center for Neurodegenerative Diseases Hertie Institute for Clinical Brain Research University of Tübingen National Institutes of Health National Institute of Diabetes and Digestive and Kidney Diseases The University of Texas Southwestern Medical Center Central South University Xiangya Hospital Central South University UNSW Sydney University of Missouri–Kansas City Baylor College of Medicine HudsonAlpha Institute for Biotechnology Broad Institute University of Washington Johns Hopkins University University of Pittsburgh Life Sciences Discovery Fund University of Minnesota Vanderbilt University

Une affiliation ne permet pas de déduire la nationalité d’un auteur.

Les sujets associés

Fibroblast Growth Factor ResearchConnective tissue disorders researchGenetic Syndromes and Imprinting

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