PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Endocrinology and Metabolism10.3803/enm.2020.7562020354909-917Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/ParagangliomaSoo Hyun Seo, Jung Hee Kim, Man Jin Kim, Sung Im Cho, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seonghttp://e-enm.org/upload/pdf/enm-2020-756.pdf, http://e-enm.org/journal/view.php?doi=10.3803/EnM.2020.756, http://e-enm.org/upload/pdf/enm-2020-756.pdf
Clinical Genetics10.1111/cge.120062012835477-481Whole exome sequencing identifies a novelDFNA9mutation, C162YJ Gao, J Xue, Li Chen, X Ke, Y Qi, Y Liuhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.12006
Obesity10.1002/oby.204922013222576-584Whole-Exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesityRichard Gill, Yee Him Cheung, Yufeng Shen, Patricia Lanzano, Nazrat M. Mirza, Svetlana Ten, Noel K. Maclaren, Roja Motaghedi, Joan C. Han, Jack A. Yanovski, Rudolph L. Leibel, Wendy K. Chunghttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Foby.20492, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Foby.20492, http://onlinelibrary.wiley.com/wol1/doi/10.1002/oby.20492/fullpdf
10.21203/rs.3.rs-83203/v12020Whole Exome Sequencing Identifies genetic variants in Chinese Han pregnant women with Venous thromboembolism-a case control studyYupei Shen, Yan Zhang, Ying Xiong, Zhiping Zhang, Baohua Zhang, Aihong Li, Zhaofeng Zhang, Jing Du, Yan Chehttps://www.researchsquare.com/article/rs-83203/v1, https://www.researchsquare.com/article/rs-83203/v1.html
10.21203/rs.3.rs-18442/v12020Whole-exome sequencing identifies GPSM1 as a susceptibility gene for premature ovarian insufficiencyXuzi Cai, Huijiao Fu, Yan Wang, Qiwen Liu, Xuefeng Wanghttps://www.researchsquare.com/article/rs-18442/v1, https://www.researchsquare.com/article/rs-18442/v1.html
Annals of Oncology10.1093/annonc/mdu354.13201425iv498Genetic Alterations in Gists Using Whole Exome and Transcriptome SequencingM. Hong, G. Kang, K. Kimhttps://api.elsevier.com/content/article/PII:S0923753419528241?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0923753419528241?httpAccept=text/plain, http://academic.oup.com/annonc/article-pdf/25/suppl_4/iv498/9691905/mdu354.13.pdf
Endocrine Connections10.1530/ec-13-0009201322104-111Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paragangliomaJoakim Crona, Alberto Delgado Verdugo, Dan Granberg, Staffan Welin, Peter Stålberg, Per Hellman, Peyman Björklundhttps://ec.bioscientifica.com/view/journals/ec/2/2/104.xml
Gene10.1016/j.gene.2015.08.05320155722303-306Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndromeAneek Das Bhowmik, Ashwin Dalalhttps://api.elsevier.com/content/article/PII:S0378111915010239?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0378111915010239?httpAccept=text/plain
Fertility and Sterility10.1016/j.fertnstert.2017.07.87420171083e296Whole exome sequencing identifies novel mutation in ANOS1 in siblings with Kallmann's syndromeD.M. Lopategui, A.J. Griswold, H. Arora, R. Ramasamyhttps://api.elsevier.com/content/article/PII:S0015028217313961?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0015028217313961?httpAccept=text/plain
Frontiers in Genetics10.3389/fgene.2018.0075220199Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung DiseaseWei Wu, Li Lu, Weijue Xu, Jiangbin Liu, Jun Sun, Lulu Zheng, Qingfeng Sheng, Zhibao Lvhttps://www.frontiersin.org/article/10.3389/fgene.2018.00752/full