genetics

Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome
Simona Amenta, Silvia Frangella, Giuseppe Marangi, Serena Lattante, Stefania Ricciardi, Paolo Niccolò Doronzio, Daniela Orteschi, Chiara Veredice, Ilaria Contaldo, Giuseppe Zampino, Mattia Gentile, Emanuela Scarano, Claudio Graziano, Marcella Zollino

Journal of Medical Genetics Dec 2020, jmedgenet-2020-107225; DOI: 10.1136/jmedgenet-2020-107225
Editorial: JMG in 2021
Huw Dorkins

Journal of Medical Genetics Jan 2021, jmedgenet-2020-107679; DOI: 10.1136/jmedgenet-2020-107679
Comprehensive evaluation of BRCA1/2 variant interpretation ability among laboratories in China
Kang Shao, Ruixia Wang, Shoufang Qu, Wenxin Zhang, Ting Yu, Boyang Cao, Pingping Dai, Anna Zhu, Jianguang Zhang, Juan Wang, Lusheng Wang, Shida Zhu, Kui Wu, Xuexi Yang, Xiaoyan Chang, Fang Chen, Jie Huang

Journal of Medical Genetics Jan 2021, jmedgenet-2020-107360; DOI: 10.1136/jmedgenet-2020-107360
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration
Maria Lisa Dentici, Viola Alesi, Mathieu Quinodoz, Barbara Robens, Andrea Guerin, Sébastien Lebon, Annapurna Poduri, Lorena Travaglini, Federica Graziola, Alexandra Afenjar, Boris Keren, Valerio Licursi, Alessandro Capuano, Bruno Dallapiccola, Andrea Superti-Furga, Antonio Novelli

Journal of Medical Genetics Jan 2021, jmedgenet-2020-107430; DOI: 10.1136/jmedgenet-2020-107430
Adopted individuals’ interest in elective genomic testing
Jessica Edgar, Annie Bao, Tara Maga, Marci Schwartz, Carin Yates, Sara Spencer

Journal of Medical Genetics Dec 2020, jmedgenet-2020-107503; DOI: 10.1136/jmedgenet-2020-107503
Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKB
Jun Wei, Zhuqing Shi, Rong Na, W Kyle Resurreccion, Chi-Hsiung Wang, David Duggan, S Lilly Zheng, Peter J Hulick, Brian T Helfand, Jianfeng Xu

Journal of Medical Genetics Dec 2020, jmedgenet-2020-107286; DOI: 10.1136/jmedgenet-2020-107286
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci, Valentina Prota, Diana Carli, Elisa Giorgio, Francesca Clementina Radio, Vincenzo Antona, Mario Giuffrè, Kara Ranguin, Cindy Colson, Silvia De Rubeis, Paola Dimartino, Joseph D Buxbaum, Giovanni Battista Ferrero, Marco Tartaglia, Simone Martinelli, Travis H Stracker, Alfredo Brusco

Journal of Medical Genetics Dec 2020, jmedgenet-2020-107281; DOI: 10.1136/jmedgenet-2020-107281
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
Xiaoshan Tang, Cuihua Liu, Xiaorong Liu, Jing Chen, Xiaoyan Fan, Jialu Liu, Duan Ma, Guanghai Cao, Zhi Chen, Daliang Xu, Ying Zhu, Xiaoyun Jiang, Lizhi Cheng, Yubing Wu, Ling Hou, Yuhong Li, Xiaoshan Shao, Shasha Zheng, Aihua Zhang, Bixia Zheng, Shan Jian, Zanhua Rong, Qingxiao Su, Xia Gao, Jia Rao, Qian Shen, Hong Xu, Chinese Children Genetic Kidney Disease Database (CCGKDD)

Journal of Medical Genetics Dec 2020, jmedgenet-2020-107184; DOI: 10.1136/jmedgenet-2020-107184
CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes
Tom Walsh, Silvia Casadei, Katherine M Munson, Mary Eng, Jessica B Mandell, Suleyman Gulsuner, Mary-Claire King

Journal of Medical Genetics Oct 2020, jmedgenet-2020-107320; DOI: 10.1136/jmedgenet-2020-107320
Dysfunction of VIPR2 leads to myopia in humans and mice
Fuxin Zhao, Qihang Li, Wei Chen, He Zhu, Dengke Zhou, Peter Sol Reinach, Zhenglin Yang, Mingguang He, Anquan Xue, Deng Wu, Tianzi Liu, Qian Fu, Changqing Zeng, Jia Qu, Xiangtian Zhou

Journal of Medical Genetics Dec 2020, jmedgenet-2020-107220; DOI: 10.1136/jmedgenet-2020-107220

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