Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases (vol 19, pg 224, 2017)

Hagman Kelly D. Farwell; Shinde Deepali N.; Mroske Cameron; Smith Erica; Radtke Kelly; Shahmirzadi Layla; El-Khechen Dima; Powis Zoe; Chao Elizabeth C.; Alcaraz Wendy A.; Helbig Katherine L.; Sajan Samin A.; Rossi Mari; Lu Hsiao-Mei; Huether Robert; Li Shuwei; Wu Sitao; Nunes Mark E.; Tang Sha

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Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases (vol 19, pg 224, 2017)

机译：临床报告的候选基因标准：诊断外序列测序识别8％的未确诊性疾病患者中的改变的候选基因（Vol 19，PG 224,2017）

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《Genetics in medicine》 |2018年第9期|共4页
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Hagman Kelly D. Farwell; Shinde Deepali N.; Mroske Cameron; Smith Erica; Radtke Kelly; Shahmirzadi Layla; El-Khechen Dima; Powis Zoe; Chao Elizabeth C.; Alcaraz Wendy A.; Helbig Katherine L.; Sajan Samin A.; Rossi Mari; Lu Hsiao-Mei; Huether Robert; Li Shuwei; Wu Sitao; Nunes Mark E.; Tang Sha;
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正文语种 eng
中图分类医学遗传学;
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1. Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases (vol 19, pg 224, 2017) [J] . Hagman Kelly D. Farwell, Shinde Deepali N., Mroske Cameron, Genetics in medicine . 2018,第9期

机译：临床报告的候选基因标准：诊断外序列测序识别8％的未确诊性疾病患者中的改变的候选基因（Vol 19，PG 224,2017）
2. Evaluating next-generation sequencing for direct clinical diagnostics in diarrhoeal disease (vol 36, pg 1325, 2017) [J] . Joensen K. G., Engsbro A. L. O., Lukjancenko O., European journal of clinical microbiology and infectious diseases: Official publication of the European Society of Clinical Microbiology . 2017,第7期

机译：评估腹泻病直接临床诊断的下一代测序（Vol 36，PG 1325,2017）
3. Case Report: Novel RPGRIP1L Gene Mutations Identified by Whole Exome Sequencing in a Patient With Multiple Primary Tumors [J] . Jiani Guo, Yu Yang, Zhuqing Ji, Frontiers in Genetics . 2021,第2期

机译：病例报告：通过多发性肿瘤的患者全体外壳测序鉴定的新型RPGRIP1L基因突变
4. Establish Reporting Format of Gene Related Rare-Diseases by Exome Sequencing in the Clinical Medical Laboratory [C] . Cheng-Mao Ho, Hsi-Yuan Huang, Chin-An Yang, IEEE International Conference on Bioinformatics and Bioengineering . 2016

机译：在临床医学实验室中通过外显子组测序建立与基因有关的罕见病报告格式
5. Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8 of patients with undiagnosed diseases [O] . Kelly D. Farwell Hagman, Deepali N. Shinde, Cameron Mroske, -1

机译：临床报告的候选基因标准：诊断外显子组测序可在8％未确诊疾病的患者中鉴定出候选基因的改变
6. Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes [O] . Christodoulou, Katja, Wiskin, Anthony E, Gibson, Jane, 2012

机译：小儿炎症性肠病患者的下一代外显子组测序可鉴定候选基因中的稀有和新颖变体

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases (vol 19, pg 224, 2017)

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