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RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinityRNU4-2单等位基因变异作为综合征性神经发育障碍的主要原因，包括在具有父母近亲结婚的患者中。
Bertoli-Avella, Aida M.; Ganoza, Christian A.; Ferreira, Mariana; Najafi, Maryam; Polla, Daniel L.; Kandaswamy, Krishna; Tripolszki, Kornelia; Bauer, Peter; Basto, Jorge Pinto.png)
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收藏 Clinical and genetic characteristics of PLA2G6-related parkinsonism in Southwest China and a comprehensive literature review西南中国PLA2G6相关帕金森病的临床与遗传特征及综合文献综述Cheng, Yangfan; Zhang, Yang; Xiao, Yi; Wang, Shichan; Chen, Sihui; Zheng, Xiaoting; Yang, Tianmi; Jiang, Qirui; Huang, Jingxuan; Lin, Junyu; Ou, Ruwei; Li, Chunyu; Wei, Qianqian; Chen, Xueping; Shang, Huifang 分享 收藏 Identification of MACF1 as a causative gene of generalised epilepsy鉴定MACF1为全面性癫痫的致病基因Lei, Xiao-Yun; Zhang, Meng-Wen; Sun, Hui; Song, Wang; Liang, Xiao-Yu; Wang, Cui-Shan; Li, Bing-Mei; Liu, Xiao-Rong; Wang, Yao; Tian, Yang; Peng, Qian; Wang, Jie; Meng, Heng; He, Na; Liao, Wei-Ping 分享 收藏 Electronic health record-based registry for identification of individuals at risk for hereditary cancer syndromes基于电子健康记录的登记系统，用于识别罹患遗传性癌症综合征的高风险个体Singh, Vinit; Rafter, Thomas E.; Sharbatji, Mohamad; Liu, Jing; Brown, Quiana; Brierley, Karina; Healy, Claire; Xicola, Rosa M.; Kashyap, Nitu M.; Llor, Xavier 分享 收藏 UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variants英国临床实践指南：针对携带体细胞POT1致病性变异患者的管理Tsoulaki, Olga; Evans, D. Gareth; Sinha, Khushboo; Rajan, Neil; Bakr, Farah; Hatcher, Helen; Napolitano, Andrea; Finn, Elena; Iyengar, Sunil; Sohaib, Aslam; Sadler, Timothy J.; Forde, Claire; Woodward, Emma Roisin; McVeigh, Terri P.; Tischkowitz, Marc; Lalloo, Fiona; Hanson, Helen 分享 收藏 Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosisFNDC1中的罕见错义变异与重度青少年特发性脊柱侧弯相关。Charng, Wu-Lin; Haller, Gabe; Whittle, Julia; Nikolov, Momchil; Avery, Addison; Morcuende, Jose; Giampietro, Philip; Raggio, Cathy; Miller, Nancy; Justice, Anne E.; Strande, Natasha T.; Seeley, Mark; Bodian, Dale L.; Wise, Carol A.; Sepich, Diane S.; Dobbs, Matthew B.; Gurnett, Christina A. 分享 收藏 Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two familiesLoid, Petra; Wang, Fan; Lennartsson, Otto; Muurinen, Mari; Costantini, Alice; Vats, Sakshi; Lodefalk, Maria; Nilsson, Ola; Makitie, Outi 分享 收藏 Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study基因组测序在自闭症中的临床应用: 来自基因组研究的说明性示例Selvanayagam, Thanuja; Hoang, Ny; Sarikaya, Ege; Howe, Jennifer; Russell, Carolyn; Iaboni, Alana; Quirbach, Morgan; Marshall, Christian R.; Szatmari, Peter; Anagnostou, Evdokia; Vorstman, Jacob; Hartley, Dean M.; Scherer, Stephen W. 分享 收藏 De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsyYe, Zi-Long; Shen, Nan-Xiang; Luo, Xiang-Yun; Lin, Hai-Sheng; Guo, Yu-Tao; Qiu, Dong-Jie; Yuan, Shi-Zhan; He, Ming-Feng; Fan, Cui-Xia; Li, Wen-Bin; Shi, Yi-Wu; Zhang, Li-Bin 分享 收藏 LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohortReytan Miron, Sivan; Kurolap, Alina; Abu-Libdeh, Bassam; Abu-Libdeh, Abdel Salam; Velmans, Clara; Erger, Florian; Riehmer, Vera; Hsieh, Tzung-Chien; Lesmann, Hellen; Reches, Adi; Chai Gadot, Chofit; Mory, Adi; Al-Ashhab, Motee; Netzer, Christian; Damseh, Nadirah; Baris Feldman, Hagit 分享 收藏 
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