7月の掲載論文・受賞
■腎臓グループ
Rossanti R, Okada E, Sakakibara N, et al. Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions. Kidney Int Rep. 2025;10(5):1509-1517. Published 2025 Mar 3. doi:10.1016/j.ekir.2025.02.023. PMID: 40485688
■循環器グループ
Norrish G, Hall K, Field E, Cervi E, Boleti O, Ziółkowska L, Olivotto I, Passantino S, Khraiche D, Limongelli G, Weintraub RG, Anastasakis A, Biagini E, Ragni L, Sarquella-Brugada G, Cesar S, Prendiville T, McLeod K, Ilina M, Baban A, Ojala TH, Spentzou G, Bhole V, Gran F, Brown E, Delle Donne G, Khodaghalian B, Fernandez A, Daubeney PEF, Linter K, Kubus P, Uzun O, Bökenkamp R, Raimondi F, Marrone C, Medrano C, Gonzalez-Lopez E, Siles A, Luczak-Wozniak K, Bharucha T, Adwani S, Klaassen S, Castro FJ, Guereta L, Yamazawa H, Sinagra G, Popoiu A, Perin F, Chana B, De Wilde H, Rasmussen TB, Mogensen J, Mathur S, Centeno F, Reinhardt Z, Barriales-Villa R, Kubo T, Felice T, Radulescu C, Schouvey S, Chaker M, Kaski JP.
Sex Differences in Children and Adolescents With Hypertrophic Cardiomyopathy.
JACC Adv. 2025 Jul 4;4(8):101907.
doi: 10.1016/j.jacadv.2025.101907.
PMID: 40618618
Sandmann C, Klaassen S, Kaski JP, Norrish G, Satish Adwani, Aris Anastasakis, Niels Holmark Andersen, Anwar Baban, Roberto Barriales-Villa, Elena Biagni, Tara Bharucha, Vinay Bhole, Georgia Sarquella Brugada, Luc Bruyndonckx, Regina Bokenkamp, Fernando Castro, Melisa Chaker, Fernando Centeno, Piers Daubeney, Hans De Wilde, Grazia Delle Donne, Adrián Fernández, Pablo Garcia-Pavia, Ferran Gran, Victor Grech, Luis García Guereta, Marianna Silvia Guerchicoff Lemcke, Bernadette Khodaghalian, Juan Pablo Kaski, Diala Khraiche, Sabine Klaassen, Alexander Kovacevic, Toru Kubo, Peter Kubus, Giuseppe Limongelli, Katie Linter, Constancio Medrano López, Katarzyna Luczak-Wozniak, Chiara Marrone, Sujeev Mathur, Karen McLeod, Joana Oliveira Miranda, Jens Mogensen, Gabrielle Norrish, Tiina Ojala, Iacopo Olivotto, Francesca Perin, Anca Popoiu, Terence Prendiville, Cristina Ramona Rădulescu, Francesca Raimondi, Zdenka Reinhardt, Christoph Sandmann, Sylvie Schouvey, Gianfranco Sinagra, Marit Kristine Smedsrud, Georgia Spentzou, Bertrand Tchana, Maria Mercedes Saenz Tejeira, Orhan Uzun, Robert Weintraub, Cordula Wolf, Hirokuni Yamazawa, Lidia Ziolkowski
Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy.
J Med Genet. 2025 Jul 21;62(8):528-530.
doi: 10.1136/jmg-2025-110696.
PMID: 40379471