Genetic Variation

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 Oct 2021, jmedgenet-2021-108114; DOI: 10.1136/jmedgenet-2021-108114
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
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
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice
Jiangshan Cong, Xiong Wang, Amir Amiri-Yekta, Lingbo Wang, Zine-Eddine Kherraf, Chunyu Liu, Caroline Cazin, Shuyan Tang, Seyedeh Hanieh Hosseini, Shixiong Tian, Abbas Daneshipour, Jiaxiong Wang, Yiling Zhou, Yuyan Zeng, Shenmin Yang, Xiaojin He, Jinsong Li, Yunxia Cao, Li Jin, Pierre F Ray, Feng Zhang

Journal of Medical Genetics Aug 2021, jmedgenet-2021-107919; DOI: 10.1136/jmedgenet-2021-107919
Assessing performance of pathogenicity predictors using clinically relevant variant datasets
Adam C Gunning, Verity Fryer, James Fasham, Andrew H Crosby, Sian Ellard, Emma L Baple, Caroline F Wright

Journal of Medical Genetics Aug 2021, 58 (8) 547-555; DOI: 10.1136/jmedgenet-2020-107003
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 2021, jmedgenet-2021-107871; DOI: 10.1136/jmedgenet-2021-107871
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 Jun 2021, jmedgenet-2021-107886; DOI: 10.1136/jmedgenet-2021-107886
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations
Alice Garrett, Miranda Durkie, Alison Callaway, George J Burghel, Rachel Robinson, James Drummond, Bethany Torr, Cankut Cubuk, Ian R Berry, Andrew J Wallace, Sian Ellard, Diana M Eccles, Marc Tischkowitz, Helen Hanson, Clare Turnbull

Journal of Medical Genetics May 2021, 58 (5) 297-304; DOI: 10.1136/jmedgenet-2020-107248
Haploinsufficiency in non-homologous end joining factor 1 induces ovarian dysfunction in humans and mice
Guoqing Li, Xi Yang, Lingbo Wang, Yuncheng Pan, Siyuan Chen, Lingyue Shang, Yicheng Zhang, Yucheng Wu, Zixue Zhou, Qing Chen, Xue Zhang, Ling Zhang, Yingchen Wang, Jinsong Li, Li Jin, Yanhua Wu, Xiaojin Zhang, Feng Zhang

Journal of Medical Genetics Apr 2021, jmedgenet-2020-107398; DOI: 10.1136/jmedgenet-2020-107398
Improving the clinical interpretation of missense variants in X linked genes using structural analysis
Shalaw Rassul Sallah, Jamie M Ellingford, Panagiotis I Sergouniotis, Simon C Ramsden, Nicholas Lench, Simon C Lovell, Graeme C Black

Journal of Medical Genetics Mar 2021, jmedgenet-2020-107404; DOI: 10.1136/jmedgenet-2020-107404

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