Tópico(s): Religious Studies and Spiritual Practices
2017 - Morcelliana | Jornal de Estudos Espíritas
Svitlana Podliesna, Julian Delanne, Lindsey Miller, David J. Tester, Merujan Y. Uzunyan, Shoji Yano, Mischa Klerk, Bryan C. Cannon, Apichai Khongphatthanayothin, Gabriel Laurent, Géraldine Bertaux, Sylvie Falcon‐Eicher, Shengnan Wu, Hai-Yun Yen, Hanlin Gao, Arthur A.M. Wilde, Laurence Faivre, Michael J. Ackerman, Elisabeth M. Lodder, Connie R. Bezzina,
Rare genetic variants in TNNI3K encoding troponin-I interacting kinase have been linked to a distinct syndrome consisting primarily of supraventricular tachycardias and variably expressed conduction disturbance and dilated cardiomyopathy in 2 families.The purpose of this study was to identify new genetic variants associated with inherited supraventricular tachycardias, cardiac conduction disease, and cardiomyopathy.We conducted next generation sequencing in 3 independent multigenerational families ...
Tópico(s): Genomics and Rare Diseases
2018 - Elsevier BV | Heart Rhythm
Anne‐Sophie Denommé‐Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange‐Line Bruel, Andrea Ciolfi, Jill Clayton‐Smith, Bruno Dallapiccola, Yannis Duffourd, Kornelia Ellwanger, Chiara Fallerini, Christian Gilissen, Holm Graeßner, Tobias B. Haack, Markéta Havlovicová, Alexander Hoischen, Nolwenn Jean‐Marçais, Tjitske Kleefstra, Estrella López‐Martín, Milan Macek, Maria Antonietta Mencarelli, Sébastien Moutton, Rolph Pfundt, Simone Pizzi, Manuel Posada de la Paz, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukáš Ryba, Hana Safraou, Martin Schwarz, Marco Tartaglia, Christel Thauvin‐Robinet, Julien Thévenon, Frédéric Tran Mau‐Them, Aurélien Trimouille, Pavel Votýpka, Bert B.A. de Vries, Marjolein H. Willemsen, Birte Zurek, Alain Verloès, Christophe Philippe, Gerben van der Vries, Sophie Hambleton, Nienke van Os, Martha Spilioti, Jordi Díaz‐Manera, Elisabeth Kapaki, Andrea Ciolfi, Jill Clayton‐Smith, Alexander Hoischen, Jana Vandrovcova, Markéta Havlovicová, Han Brunner, Jill Clayton‐Smith, Wilhelmina S. Kerstjens‐Frederikse, Elke de Boer, Mária Judit Molnár, Enzo Cohen, Marta Gut, A. Nascimento Osorio, Sarah Weckhuysen, Vicenzo Nigro, Vincenzo Nigro, Mara Bourbouli, Manuel Posada, Francesca Clementina Radio, Patrick May, Joeri K. van der Velde, Cyril Mignot, Lukáš Ryba, Delphine Héron, Gijs W.E. Santen, Martin Schwarz, Bruno Dallapiccola, Elizabeth Alexander, Annalaura Torella, Aurélien Trimouille, Mariëlle van Gijn, Lisenka E.L.M. Vissers, Aurélien Trimouille, Pavel Votýpka, Kristina Zguro, Nienke van Os, Rabah Ben Yaou, Coline Thomas, Andrea Ciolfi, Rita Horváth, Alexander Hoischen, Annalisa Vetro, Anna Marcé‐Grau, Lennart Johanson, Shuang� Li, Marta Gut, Mary Reilly, Gisèle Bonne, Marcos Fernandez-Callejo, Iris te Paske, Isabelle Nelson, Ida Paramonov, Iris te Paske, Peter Robinson, Aurélien Trimouille, Wouter Steyaert, Ana Töpf, Antonio Vitobello, Joeri K. van der Velde, Jana Vandrovcova, Holm Graeßner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze‐Hentrich, Rebecca Schüle, Jishu Xu, Christoph Keßler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Lüdger Schöls, Holger Hengel, Holger Lerche, Josua Kegele, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Han Brunner, Peter A.C. ‘t Hoen, Lisenka E.L.M. Vissers, Alexander Hoischen, Iris te Paske, Karolis Šablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Nienke van Os, Marloes Steehouwer, Burcu Yaldız, Elke de Boer, Anthony J. Brookes, Colin Veal, Spencer Gibson, Vatsalya Maddi, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Peter Robinson, Volker Straub, Chiara Marini Bettolo, Jordi Díaz‐Manera, Sophie Hambleton, Karin R. Engelhardt, Jill Clayton‐Smith, Sophie Hambleton, Elizabeth Alexander, Jill Clayton‐Smith, Jill Clayton‐Smith, Elizabeth Alexander, Aurélien Trimouille, Andrea Ciolfi, Yannis Duffourd, Ange‐Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltrán, Marta Gut, Steven Laurie, Davide Piscia, Marta Gut, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvò, Marcos Fernandez-Callejo, Hanns Lochmüller, Daniel Picó, Marcos Fernandez-Callejo, Hanns Lochmüller, Gulcin Gumus, Virginie Bros‐Facer, Ana Rath, Marc Hanauer, David Lagorce, Oscar Hongnat, Maroua Chahdil, Emeline Lebreton, Giovanni Stévanin, Alexandra Dürr, Claire‐Sophie Davoine, Léna Guillot‐Noël, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Métay, B. Eymard, Rabah Ben Yaou, António Atalaia, Tanya Stojkovic, Enzo Cohen, Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Věra Franková, Markéta Havlovicová, Petra Lišková, Pavla Doležalová, Helen Parkinson, Thomas Keane, Mallory Freeberg, Coline Thomas, Dylan Spalding, Isabelle Nelson, Coline Thomas, Glenn Robert, Alessia Costa, Christine Patch, Michael G. Hanna, Henry Houlden, Mary Reilly, Ana Töpf, Stéphanie Efthymiou, Mary Reilly, Elisa Calì, Francesca Magrinelli, Sanjay M. Sisodiya, Jonathan D. Rohrer, Francesco Muntoni, Irina Zaharieva, Anna Sárközy, Vincent Timmerman, Jonathan Baets, Geert de Vries, Jonathan De Winter, Danique Beijer, Peter De Jonghe, Liedewei Van de Vondel, Willem De Ridder, Sarah Weckhuysen, Vincenzo Nigro, Margherita Mutarelli, Sarah Weckhuysen, Vincenzo Nigro, Alessandra Varavallo, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Francesca Gualandi, Stefania Bigoni, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveíra, José Garcia‐Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Wouter Steyaert, Gerben van der Vries, Pieter B. Neerincx, David Ruvolo, Gerben van der Vries, Wilhemina S. Kerstjens Frederikse, Eveline Zonneveld-Huijssoon, Dieuwke Roelofs-Prins, Mariëlle van Gijn, Sebastian Köhler, Alison Metcalfe, Mariëlle van Gijn, Séverine Drunat,
Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses.We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses, and lessons learned.Methods: Data from the first 3576 exomes (1522 probands and 2054 ...
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