Search Results - "American College of Medical Genetics"

Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms by Hui Zhang, Jian Gao, Hanjun Wang, Mengli Liu, Shuangshuang Lu, Hongen Xu, Wenxue Tang, Guoxi Zheng

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Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine by Neven Maksemous, Robert A Smith, Heidi G Sutherland, Bridget H Maher, Omar Ibrahim, Garth A Nicholson, Elisabeth P Carpenter, Rod A Lea, M Zameel Cader, Lyn R Griffiths

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A novel mutation in SORD gene associated with distal hereditary motor neuropathies by Xiaoqin Yuan, Shanshan Zhang, Huifang Shang, Yufeng Tang

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Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism by Nurdan Çiftci, Ayşehan Akıncı, Ekrem Akbulut, Emine Çamtosun, İsmail Dündar, Mustafa Doğan, Leman Kayaş

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Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation by Jianbo Wang, Weisheng Li, Naihui Zhou, Jingliu Liu, Shoumin Zhang, Xueli Li, Zhenlu Li, Ziliang Yang, Miao Sun, Min Li

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Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family by Jinliang Li, Han Xie, Yuwu Jiang

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Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss by Kaifeng Zheng, Sheng Lin, Jian Gao, Shiguo Chen, Jindi Su, Zhiqiang Liu, Shan Duan

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Novel variants of ABCA4 in Han Chinese families with Stargardt disease by Fang-Yuan Hu, Feng-Juan Gao, Jian-kang Li, Ping Xu, Dan-Dan Wang, Sheng-Hai Zhang, Ji-Hong Wu

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Whole‐exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non‐compaction cardiomyopathy by Qiqing Sun, Jun Guo, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Yuanying Chen, Weili Yang, Wei Li, Yingjun Feng

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Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease by Zhechi He, Ke Wu, Wenqing Xie, Jianghua Chen

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Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy by Tayyaba Afsar, Tayyaba Afsar, Xiaoyun Huang, Abid Ali Shah, Safdar Abbas, Shazia Bano, Arif Mahmood, Junjian Hu, Suhail Razak, Suhail Razak, Muhammad Umair, Muhammad Umair

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Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing by Dong Wang, Min Gao, Kaihui Zhang, Ruifeng Jin, Yuqiang Lv, Yong Liu, Jian Ma, Ya Wan, Zhongtao Gai, Yi Liu

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The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome by Fang Wang, Dan Zhao, Jie Ding, Xuejuan Li

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Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing by John Hoon Rim, Se Hee Kim, In Sik Hwang, Soon Sung Kwon, Jieun Kim, Hyun Woo Kim, Min Jung Cho, Ara Ko, Song Ee Youn, Jihun Kim, Young Mock Lee, Hee Jung Chung, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang

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Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss by Sloane Clay, Adele Evans, Regina Zambrano, David Otohinoyi, Chindo Hicks, Fern Tsien

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A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family by Cai Zhang, Caiqi Du, Juan Ye, Feng Ye, Renfa Wang, Xiaoping Luo, Yan Liang

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Novel mutations in HSF4 cause congenital cataracts in Chinese families by Zongfu Cao, Yihua Zhu, Lijuan Liu, Shuangqing Wu, Bing Liu, Jianfu Zhuang, Yi Tong, Xiaole Chen, Yongqing Xie, Kaimei Nie, Cailing Lu, Xu Ma, Juhua Yang

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Clinical and Functional Characterization of a Novel Mutation in AVPR2 Causing Nephrogenic Diabetes Insipidus in a Four-Generation Chinese Family by Shusen Guo, Shimin Wu, Zhuxi Li, Lianjing Huang, Di Zhan, Cai Zhang, Xiaoping Luo

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NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study by Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral, Ishwar C. Verma

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CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south IndiaResearch in context by Sneha D. Varkki, Rekha Aaron, Aaron Chapla, Sumita Danda, Priyanka Medhi, N. Jansi Rani, Grace R. Paul

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