genetics

Convergent lines of evidence support NOTCH4 as a schizophrenia risk gene
Yan Zhang, Shiwu Li, Xiaoyan Li, Yongfeng Yang, Wenqiang Li, Xiao Xiao, Ming Li, Luxian Lv, XiongJian Luo

Journal of Medical Genetics Oct 2021, 58 (10) 666-678; DOI: 10.1136/jmedgenet-2020-106830
Globotriaosylsphingosine (lyso-Gb₃) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort
Grigoris Effraimidis, Ulla Feldt-Rasmussen, Åse Krogh Rasmussen, Pamela Lavoie, Mona Abaoui, Michel Boutin, Christiane Auray-Blais

Journal of Medical Genetics Oct 2021, 58 (10) 692-700; DOI: 10.1136/jmedgenet-2020-107162
Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1
Anne-Sophie Chong, Maria Apellaniz-Ruiz, Leanne de Kock, Dorothée Bouron-Dal Soglio, William R Doyle, John R Priest, Barbara Rivera, William D Foulkes

Journal of Medical Genetics Sep 2021, jmedgenet-2021-107887; DOI: 10.1136/jmedgenet-2021-107887
Gene fusions in tumourigenesis with particular reference to ovarian cancer
Yi Zhou, Mona El-Bahrawy

Journal of Medical Genetics Aug 2021, jmedgenet-2021-108010; DOI: 10.1136/jmedgenet-2021-108010
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
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review
Anna Durkin, Catherine DeVile, Paul Arundel, Mary Bull, Jennifer Walsh, Nicholas J Bishop, Emilie Hupin, Susan Parekh, Ramesh Nadarajah, Amaka C Offiah, Alistair Calder, Joanna Brock, Duncan Baker, Meena Balasubramanian

Journal of Medical Genetics Aug 2021, jmedgenet-2021-107942; DOI: 10.1136/jmedgenet-2021-107942
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
Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN)
Zerin Hyder, Adele Fairclough, Mike Groom, Joan Getty, Elizabeth Alexander, Elke M van Veen, Guy Makin, Chitra Sethuraman, Vivian Tang, D Gareth Evans, Eamonn R Maher, Emma R Woodward

Journal of Medical Genetics Sep 2021, 58 (9) 581-585; DOI: 10.1136/jmedgenet-2020-107087
Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population
Zixin Qin, Cheong Nang Kuok, Hui Dong, Luhan Jiang, Li Zhang, Maoni Guo, Hio Kuan Leong, Lei Wang, Grace Meng, San Ming Wang

Journal of Medical Genetics Sep 2021, 58 (9) 587-591; DOI: 10.1136/jmedgenet-2020-107181

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