Endocrinology and Metabolism

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Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma

Soo 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 Seong

Endocrinol Metab. 2020;35(4):909-917. Published online December 23, 2020
DOI: https://doi.org/10.3803/EnM.2020.756

Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma

Soo 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 Seong

Endocrinology and Metabolism. 2020;35(4):909-917

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Whole exome sequencing identifies a novelDFNA9mutation, C162Y

J Gao, J Xue, Li Chen, X Ke, Y Qi, Y Liu

Clinical Genetics. 2012;83(5):477-481

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Whole-Exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity

Richard 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. Chung

Obesity. 2013;22(2):576-584

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Whole Exome Sequencing Identifies genetic variants in Chinese Han pregnant women with Venous thromboembolism-a case control study

Yupei Shen, Yan Zhang, Ying Xiong, Zhiping Zhang, Baohua Zhang, Aihong Li, Zhaofeng Zhang, Jing Du, Yan Che

. 2020;

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Whole-exome sequencing identifies GPSM1 as a susceptibility gene for premature ovarian insufficiency

Xuzi Cai, Huijiao Fu, Yan Wang, Qiwen Liu, Xuefeng Wang

. 2020;

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Genetic Alterations in Gists Using Whole Exome and Transcriptome Sequencing

M. Hong, G. Kang, K. Kim

Annals of Oncology. 2014;25:iv498

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Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paraganglioma

Joakim Crona, Alberto Delgado Verdugo, Dan Granberg, Staffan Welin, Peter Stålberg, Per Hellman, Peyman Björklund

Endocrine Connections. 2013;2(2):104-111

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Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome

Aneek Das Bhowmik, Ashwin Dalal

Gene. 2015;572(2):303-306

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Whole exome sequencing identifies novel mutation in ANOS1 in siblings with Kallmann's syndrome

D.M. Lopategui, A.J. Griswold, H. Arora, R. Ramasamy

Fertility and Sterility. 2017;108(3):e296

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Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease

Wei Wu, Li Lu, Weijue Xu, Jiangbin Liu, Jun Sun, Lulu Zheng, Qingfeng Sheng, Zhibao Lv

Frontiers in Genetics. 2019;9:

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