Genetic Variation

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
Quentin Testard, Xavier Vanhoye, Kevin Yauy, Marie-Emmanuelle Naud, Gaelle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Geneviève, Vincent Gatinois, Constance Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, Rodolphe Dard, Aude Tessier, Bérénice Hervé, François Vialard, Ines Harzallah, Renaud Touraine, Benjamin Cogné, Wallid Deb, Thomas Besnard, Olivier Pichon, Béatrice Laudier, Laurent Mesnard, Alice Doreille, Tiffany Busa, Chantal Missirian, Véronique Satre, Charles Coutton, Tristan Celse, Radu Harbuz, Laure Raymond, Jean-François Taly, Julien Thevenon

Journal of Medical Genetics Sep 2022, jmedgenet-2022-108439; DOI: 10.1136/jmg-2022-108439
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations
Laëtitia Meulemans, Stéphanie Baert Desurmont, Marie-Christine Waill, Gaia Castelain, Audrey Killian, Julie Hauchard, Thierry Frebourg, Florence Coulet, Alexandra Martins, Martine Muleris, Pascaline Gaildrat

Journal of Medical Genetics Sep 2022, jmedgenet-2022-108576; DOI: 10.1136/jmg-2022-108576
The role of single-cell genomics in human genetics
Varun K A Sreenivasan, Saranya Balachandran, Malte Spielmann

Journal of Medical Genetics Sep 2022, 59 (9) 827-839; DOI: 10.1136/jmedgenet-2022-108588
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 2022, 59 (9) 840-849; DOI: 10.1136/jmedgenet-2021-107965
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
Valentina Serpieri, Fulvio D’Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Romina Romaniello, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczałuba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente

Journal of Medical Genetics Sep 2022, 59 (9) 888-894; DOI: 10.1136/jmedgenet-2021-108114
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements
Vanessa Luiza Romanelli Tavares, Sofia Ligia Guimarães-Ramos, Yan Zhou, Cibele Masotti, Suzana Ezquina, Danielle de Paula Moreira, Henk Buermans, Renato S Freitas, Johan T Den Dunnen, Stephen R F Twigg, Maria Rita Passos-Bueno

Journal of Medical Genetics Sep 2022, 59 (9) 895-905; DOI: 10.1136/jmedgenet-2021-107825
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 2022, 59 (8) 785-792; DOI: 10.1136/jmedgenet-2020-107652
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing
Na Li, Magnus Zethoven, Simone McInerny, Eliza Healey, Dilanka DeSilva, Lisa Devereux, Rodney J Scott, Paul A James, Ian G Campbell

Journal of Medical Genetics Apr 2022, jmedgenet-2021-108399; DOI: 10.1136/jmedgenet-2021-108399
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population
Li Zhang, Zixin Qin, Teng Huang, Benjamin Tam, Yongsen Ruan, Maoni Guo, Xiaobing Wu, Jiaheng Li, Bojin Zhao, Jia Sheng Chian, Xiaoyu Wang, Lei Wang, San Ming Wang

Journal of Medical Genetics Jul 2022, 59 (7) 652-661; DOI: 10.1136/jmedgenet-2021-107886
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders
Anushree Acharya, Haluk Kavus, Patrick Dunn, Abdul Nasir, Leandra Folk, Kara Withrow, Ingrid M. Wentzensen, Maura R. Z. Ruzhnikov, Camille Fallot, Thomas Smol, Mélanie Rama, Kathleen Brown, Sandra Whalen, Alban Ziegler, Magali Barth, Anna Chassevent, Constance Smith-Hicks, Alexandra Afenjar, Thomas Courtin, Solveig Heide, Esperanza Font-Montgomery, Caleb Heid, J. Austin Hamm, Donald R. Love, Farouq Thabet, Vinod K. Misra, Mitch Cunningham, Suzanne M. Leal, Irma Jarvela, Elizabeth A. Normand, Fanggeng Zou, Mayada Helal, Boris Keren, Erin Torti, Wendy K. Chung, Isabelle Schrauwen

Journal of Medical Genetics Jul 2022, 59 (7) 669-677; DOI: 10.1136/jmedgenet-2021-107871

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