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

Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability

Mbarka Bchetnia, Luigi Bouchard, Jean Mathieu, Philippe M Campeau, Charles Morin, Diane Brisson, Anne-Marie Laberge, Hélène Vézina, Daniel Gaudet, Catherine Laprise

10.1136/jmedgenet-2021-107809

April 28, 2021

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists

Joanna Lazier, Taila Hartley, Jo-Ann Brock, Oana Caluseriu, David Chitayat, Anne-Marie Laberge, Sylvie Langlois, Julie Lauzon, Tanya N Nelson, Jillian Parboosingh, Dimitri J Stavropoulos, Kym Boycott, Christine M Armour

10.1136/jmedgenet-2021-107897

September 20, 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

10.1136/jmedgenet-2021-107965

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

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis

Maria J Nabais Sá, Kerry A Miller, Mary McQuaid, Nils Koelling, Andrew O M Wilkie, Hugo Wurtele, Arjan P M de Brouwer, Jorge Oliveira

10.1136/jmedgenet-2020-107572

August 5, 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

10.1136/jmedgenet-2019-106756

June 16, 2020

Editor's choice

Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype

Riku Katainen, Iikki Donner, Maritta Räisänen, Davide Berta, Anna Kuosmanen, Eevi Kaasinen, Marja Hietala, Lauri A Aaltonen

10.1136/jmedgenet-2021-107747

July 19, 2021

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state

Gökhan Yigit, Ruth Sheffer, Muhannad Daana, Yun Li, Emrah Kaygusuz, Hagar Mor-Shakad, Janine Altmüller, Peter Nürnberg, Liza Douiev, Silke Kaulfuss, Peter Burfeind, Bernd Wollnik, Knut Brockmann

10.1136/jmedgenet-2021-107769

June 25, 2021

Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability

Ethiraj Ravindran, Cynthia Gutierrez de Velazco, Ali Ghazanfar, Nadine Kraemer, Sami Zaqout, Abdul Waheed, Mohsan Hanif, Sadia Mughal, Alessandro Prigione, Na Li, Xiang Fang, Hao Hu, Angela M Kaindl

10.1136/jmedgenet-2020-107518

May 31, 2021