The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies by Ahlem Achour, Ahlem Achour, Tamara T. Koopmann, Frank Baas, Cornelis L. Harteveld

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Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with <i>LMNA</i>-Gene Variants by Hoi W. Wu, Ivo P. Van de Peppel, Julie W. Rutten, J. Wouter Jukema, Emmelien Aten, Ingrid M. Jazet, Tamara T. Koopmann, Daniela Q. C. M. Barge-Schaapveld, Nina Ajmone Marsan

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Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy by Marie-A. Chaix, MD, MSc, Tamara T. Koopmann, PhD, Philippe Goyette, PhD, Azadeh Alikashani, MSc, Frédéric Latour, MSc, Meena Fatah, HBSc, Robert M. Hamilton, MD, John D. Rioux, PhD

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Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart. by Tamara T Koopmann, Michiel E Adriaens, Perry D Moerland, Roos F Marsman, Margriet L Westerveld, Sean Lal, Taifang Zhang, Christine Q Simmons, Istvan Baczko, Cristobal dos Remedios, Nanette H Bishopric, Andras Varro, Alfred L George, Elisabeth M Lodder, Connie R Bezzina

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Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes by Nobue Yagihara, Hiroshi Watanabe, Phil Barnett, Laetitia Duboscq‐Bidot, Atack C. Thomas, Ping Yang, Seiko Ohno, Kanae Hasegawa, Ryozo Kuwano, Stéphanie Chatel, Richard Redon, Jean‐Jacques Schott, Vincent Probst, Tamara T. Koopmann, Connie R. Bezzina, Arthur A. M. Wilde, Yukiko Nakano, Takeshi Aiba, Yoshihiro Miyamoto, Shiro Kamakura, Dawood Darbar, Brian S. Donahue, Daichi Shigemizu, Toshihiro Tanaka, Tatsuhiko Tsunoda, Masayoshi Suda, Akinori Sato, Tohru Minamino, Naoto Endo, Wataru Shimizu, Minoru Horie, Dan M. Roden, Naomasa Makita

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P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL by C Coralea Stephanou, P Petros Kountouris, C Carsten W Lederer, C Celeste Bento, C Cornelis L Hartveld, J Jan Traeger-Synodinos, J John S Waye, Z Zhiyu Peng, I Irene Fylaktou, H Hashim Halim-Fikri, T Tamara T. Koopmann, L Landry Nfonsam, J Jun Sun, F Franck Nzengu-Lukusa, M Michael Angastiniotis, C Catherine Badens, B Bertha Ibarra Cortes, J Johan T. den Dunnen, J Jacques Elion, S Suthat Fucharoen, K Kyriaki Michailidou, T Thessalia Papasavva, A Antonio Piga, R Raj Ramesar, S Swee Lay Thein, L Léon Tshilolo, Z Zilfalil Bin Alwi, M Marina Kleanthous

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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome by Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee

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