Special collections

Special collections

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

Journal of Medical Genetics Sep 2021, jmedgenet-2021-107897; DOI: 10.1136/jmedgenet-2021-107897
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

Journal of Medical Genetics Sep 2021, jmedgenet-2021-107965; DOI: 10.1136/jmedgenet-2021-107965
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

Journal of Medical Genetics Sep 2021, jmedgenet-2021-107831; DOI: 10.1136/jmedgenet-2021-107831
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

Journal of Medical Genetics Aug 2021, jmedgenet-2020-107652; DOI: 10.1136/jmedgenet-2020-107652
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

Journal of Medical Genetics Aug 2021, jmedgenet-2020-107572; DOI: 10.1136/jmedgenet-2020-107572
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
Ichrak Drissi, Emily Fletcher, Ranad Shaheen, Michael Nahorski, Amal M Alhashem, Steve Lisgo, Alberto Fernández-Jaén, Katherine Schon, Kalthoum Tlili-Graiess, Sarah F Smithson, Susan Lindsay, Hayley J Sharpe, Fowzan S Alkuraya, Geoff Woods

Journal of Medical Genetics Apr 2021, jmedgenet-2020-107237; DOI: 10.1136/jmedgenet-2020-107237
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily K Mis, Charu Deshpande, Lauren Jeffries, Julie McGlynn, Hannah Hugo, Eugen Widmeier, Martin Konrad, Velibor Tasic, Raffaella Morotti, Julia Baptista, Sian Ellard, Saquib Ali Lakhani, Friedhelm Hildebrandt, Mustafa K Khokha

Journal of Medical Genetics Jul 2021, 58 (7) 453-464; DOI: 10.1136/jmedgenet-2019-106805
CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression
Xuanye Cao, Annika Wolf, Sung-Eun Kim, Robert M. Cabrera, Bogdan J. Wlodarczyk, Huiping Zhu, Margaret Parker, Ying Lin, John W. Steele, Xiao Han, Vincent Th Ramaekers, Robert Steinfeld, Richard H. Finnell, Yunping Lei

Journal of Medical Genetics Jul 2021, 58 (7) 484-494; DOI: 10.1136/jmedgenet-2020-106987
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
Reza Maroofian, Jiří Sedmík, Neda Mazaheri, Marcello Scala, Maha S Zaki, Liam P Keegan, Reza Azizimalamiri, Mahmoud Issa, Gholamreza Shariati, Alireza Sedaghat, Christian Beetz, Peter Bauer, Hamid Galehdari, Mary A O’Connell, Henry Houlden

Journal of Medical Genetics Jul 2021, 58 (7) 495-504; DOI: 10.1136/jmedgenet-2020-107048
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

Journal of Medical Genetics Jul 2021, jmedgenet-2021-107747; DOI: 10.1136/jmedgenet-2021-107747

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