Literature DB >> 30625069

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.

David R Adams1, Christine M Eng2.   

Abstract

Entities:  

Mesh：

Year:  2019        PMID： 30625069     DOI： 10.1056/NEJMc1814955

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  5 in total

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Journal:  J Hum Genet       Date:  2019-04-25       Impact factor: 3.172

2.  Autosomal recessive 333 base pair interleukin 10 receptor alpha subunit deletion in very early-onset inflammatory bowel disease.

Authors:  Jia-Jia Lv; Wen Su; Xiao-Yan Chen; Yi Yu; Xu Xu; Chun-Di Xu; Xing Deng; Jie-Bin Huang; Xin-Qiong Wang; Yuan Xiao
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Review 3.  Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen.

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Journal:  J Bone Miner Res       Date:  2022-09-11       Impact factor: 6.390

4.  Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis.

Authors:  Yining Zhao; Xiaoliang Fang; Yanjie Fan; Yu Sun; Lei He; Maosheng Xu; Guofeng Xu; Yufeng Li; Yunteng Huang; Yongguo Yu; Hongquan Geng
Journal:  World J Urol       Date:  2020-09-16       Impact factor: 4.226

5.  How do non-geneticist physicians deal with genetic tests? A qualitative analysis.

Authors:  Laurent Pasquier; Guy Minguet; Sylvie Moisdon-Chataigner; Pascal Jarno; Philippe Denizeau; Ginette Volf; Sylvie Odent; Grégoire Moutel
Journal:  Eur J Hum Genet       Date:  2021-04-28       Impact factor: 4.246
  5 in total

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