PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Genomics & Informatics10.5808/gi.220302022203e30Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in IranSajad Rafiee Komachali, Zakieh Siahpoosh, Mansoor Salehihttp://genominfo.org/upload/pdf/gi-22030.pdf, http://genominfo.org/journal/view.php?doi=10.5808/gi.22030, http://genominfo.org/upload/pdf/gi-22030.pdf
Genetics in Medicine10.1038/gim.2015.1742016181108Erratum: Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencinghttp://www.nature.com/articles/gim2015174.pdf, http://www.nature.com/articles/gim2015174, https://api.elsevier.com/content/article/PII:S1098360021043045?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1098360021043045?httpAccept=text/plain, http://www.nature.com/articles/gim2015174.pdf
Gene Reports10.1016/j.genrep.2022.101692202229101692Novel mutation in SMPD1 gene found by whole-exome sequencing in Niemann-Pick disease patientElaheh Shahabi, Dor Mohammad Kordi-Tamandani, Maryam Najafi, Ali Khajehhttps://api.elsevier.com/content/article/PII:S245201442200200X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S245201442200200X?httpAccept=text/plain
Clinical Genetics10.1111/cge.121332013852154-158Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegiaC. Bettencourt, J.L. López-Sendón, J. García-Caldentey, P. Rizzu, I.M.C. Bakker, O. Shomroni, B. Quintáns, J.R. Dávila, M.R. Bevova, M.-J. Sobrido, P. Heutink, J.G. de Yébeneshttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.12133
Human Gene10.1016/j.humgen.2023.201167202336201167CHRNG gene mutations found by whole exome sequencing are related to recurrent pregnancy lossSajad Rafiee Komachali, Mansoor Salehi, Dor Mohammad Kordi Tamandanihttps://api.elsevier.com/content/article/PII:S2773044123000268?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S2773044123000268?httpAccept=text/plain
10.21203/rs.3.rs-41775/v22020Identification of Novel Gene Mutations in Degenerative Lumbar Spinal Stenosis Using Whole Exome Sequencing in Chinese PopulationXin Jiang, Dong Chenhttps://www.researchsquare.com/article/rs-41775/v2, https://www.researchsquare.com/article/rs-41775/v2.html
10.21203/rs.3.rs-41775/v12020Identification of Novel Gene Mutations in Degenerative Lumbar Spinal Stenosis Using Whole Exome Sequencing in Chinese PopulationXin Jiang, Dong Chenhttps://www.researchsquare.com/article/rs-41775/v1, https://www.researchsquare.com/article/rs-41775/v1.html
Frontiers in Integrative Neuroscience10.3389/fnint.2023.1117617202317Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosumJi-Qing Duan, Hui Liu, Jia-Qiao Wuhttps://www.frontiersin.org/articles/10.3389/fnint.2023.1117617/full
Movement Disorders10.1002/mds.235522011263553-556Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive ParkinsonismArianna Guidubaldi, Carla Piano, Filippo M. Santorelli, Gabriella Silvestri, Martina Petracca, Alessandra Tessa, Anna Rita Bentivogliohttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.23552, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.23552, http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.23552/fullpdf
Eye10.1038/s41433-021-01525-x2021364749-759Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patientsTsz Kin Ng, Yingjie Cao, Xiang-Ling Yuan, Shaowan Chen, Yanxuan Xu, Shao-Lang Chen, Yuqian Zheng, Haoyu Chenhttps://www.nature.com/articles/s41433-021-01525-x.pdf, https://www.nature.com/articles/s41433-021-01525-x, https://www.nature.com/articles/s41433-021-01525-x.pdf