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Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

Rajiv Machado, Carrie L Welch, Matthias Haimel, Marta Bleda, Elizabeth Colglazier, John D Coulson, Marusa Debeljak, Josef Ekstein, Jeffrey R Fineman, William Christopher Golden, Emily L Griffin, Charaka Hadinnapola, Michael Allen Harris, Yoel Hirsch, Julie Hoover-Fong, Lawrence Nogee, Lewis H Romer, Samo Vesel, Stefan Graf, Nicholas Morrell, Laura Southgate, Wendy Chung

10.1136/jmedgenet-2021-107831

September 7, 2021

Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population

Yong-Ping Chen, Shi-Hui Yu, Qian-Qian Wei, Bei Cao, Xiao-Jing Gu, Xue-Ping Chen, Wei Song, Bi Zhao, Ying Wu, Ming-Ming Sun, Fei-Fei Liu, Yan-Bing Hou, Ru-Wei Ou, Ling-Yu Zhang, Kun-Cheng Liu, Jun-Yu Lin, Xin-Ran Xu, Chun-Yu Li, Jing Yang, Zheng Jiang, Jiao Liu, Yang-Fan Cheng, Yi Xiao, Ke Chen, Fei Feng, Ying-Ying Cai, Shi-Rong Li, Tao Hu, Xiao-Qin Yuan, Xiao-Yan Guo, Hui Liu, Qing Han, Qing-Qing Zhou, Na Shao, Jian-Peng Li, Ping-Lei Pan, Sha Ma, Hui-Fang Shang

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September 20, 2021

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma

Laurene Ben Aim, Eamonn R Maher, Alberto Cascon, Anne Barlier, Sophie Giraud, Tonino Ercolino, Pascal Pigny, Roderick J Clifton-Bligh, Delphine Mirebeau-Prunier, Amira Mohamed, Judith Favier, Anne-Paule Gimenez-Roqueplo, Francesca Schiavi, Rodrigo A Toledo, Patricia L Dahia, Mercedes Robledo, Jean Pierre Bayley, Nelly Burnichon

10.1136/jmedgenet-2020-107652

August 27, 2021

SETD1B-associated neurodevelopmental disorder

Alexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Benjamin Cogné, Jill Mwenifumbo, Clara van Karnebeek, Jianghong An, Steven J M Jones, Matthew Farrer, Michelle Demos, Mary Connolly, William T Gibson, CAUSES Study, CAUSES Study, Shelin Adam, Nick Dragojlovic, Christèle du Souich, Alison M Elliott, Anna Lehman, Larry Lynd, Jill Mwenifumbo, Tanya N Nelson, Clara van Karnebeek, Jan M Friedman, EPGEN Study, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Sarah E Buerki, Tara Candido, Patrice Eydoux, Daniel M Evans, William T Gibson, Gabriella Horvath, Linda Huh, Tanya N Nelson, Graham Sinclair, Tamsin Tarling, Eric B Toyota, Katelin N Townsend, Margot I Van Allen, Clara van Karnebeek, Suzanne Vercauteren

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