PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Neonatal Medicine10.5385/nm.2021.28.2.89202128289-93A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation SequencingYoong-a Suh, Young Bae Sohn, Moon Sung Park, Jang Hoon Leehttp://www.neo-med.org/upload/pdf/nm-2021-28-2-89.pdf, http://www.neo-med.org/journal/view.php?doi=10.5385/nm.2021.28.2.89, http://www.neo-med.org/upload/pdf/nm-2021-28-2-89.pdf
Prenatal Diagnosis10.1002/pd.4949201636121135-1138Identification ofKLHL40mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequenceTai-Heng Chen, Xia Tian, Pao-Lin Kuo, Hui-Ping Pan, Lee-Jun C. Wong, Yuh-Jyh Jonghttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpd.4949, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpd.4949, http://onlinelibrary.wiley.com/wol1/doi/10.1002/pd.4949/fullpdf
Neuromuscular Disorders10.1016/j.nmd.2017.06.322201727S182KHLH40 mutations causing severe neonatal nemaline myopathyT. Willis, R. Kulshrestha, C. Sewryhttps://api.elsevier.com/content/article/PII:S0960896617308957?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0960896617308957?httpAccept=text/plain
Neuromuscular Disorders10.1016/j.nmd.2015.06.364201525S288Nemaline myopathy: Next generation sequencing (NGS) significantly improving the molecular classification of Brazilian familiesJ. Gurgel-Giannetti, M. Lazar, R. Pavanello, E. Concentino, F. Fernandes, G. Sampaio, M. Zatz, M. Vainzofhttps://api.elsevier.com/content/article/PII:S0960896615005453?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0960896615005453?httpAccept=text/plain
10.21203/rs.3.rs-1270672/v12022Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8Haiming Yuan, Qingming Wang, Xiumei Zeng, Peiqing He, Wanfang Xu, Yanhui Liu, Yangyang Linhttps://www.researchsquare.com/article/rs-1270672/v1, https://www.researchsquare.com/article/rs-1270672/v1.html
Case Reports in Oncology10.1159/000447257201692328-330Understanding the Significance of Mutations in Tumor Suppressor Genes Identified Using Next-Generation Sequencing: A Case ReportSteven Sorscherhttps://www.karger.com/Article/Pdf/447257, https://www.karger.com/Article/Pdf/447257, https://www.karger.com/Article/Pdf/447257
Neuromuscular Disorders10.1016/j.nmd.2016.06.187201626S137Congenital fiber type disproportion myopathy and novel compound heterozygous mutations in the RYR1 gene. Next generation sequencing – A first line diagnostic tool for congenital myopathyK. Takamura, J. Dalton, P. Karachunskihttps://api.elsevier.com/content/article/PII:S0960896616304801?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0960896616304801?httpAccept=text/plain
BMC Medical Genetics10.1186/s12881-020-01016-y2020211Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case reportMarzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni, Sirous Zeinalihttps://link.springer.com/content/pdf/10.1186/s12881-020-01016-y.pdf, https://link.springer.com/article/10.1186/s12881-020-01016-y/fulltext.html, https://link.springer.com/content/pdf/10.1186/s12881-020-01016-y.pdf
10.21203/rs.3.rs-139943/v12021Actinomyces as a Cause of Unexplained Fever Diagnosed by Next-Generation Sequencing: Case Report and ReviewXiu Huang, Na Du, jiaxue He, yujun Duhttps://www.researchsquare.com/article/rs-139943/v1, https://www.researchsquare.com/article/rs-139943/v1.html
10.21203/rs.3.rs-858734/v22021Disseminated Strongyloides Stercoralis Hyperinfection in An Immunocompetent Patient First Diagnosed by Metagenomic Next-Generation Sequencing in Cerebrospinal Fluid: A Case ReportJunyan Qu, Zhiyong Zonghttps://www.researchsquare.com/article/rs-858734/v2, https://www.researchsquare.com/article/rs-858734/v2.html