Literature DB >> 35292922

Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts.

Fan Tong1, Jian Wang2, Rui Xiao3, Bing-Bing Wu4, Chao-Chun Zou1, Ding-Wen Wu1, Hua Wang5, Hui Zou6, Lian-Shu Han7, Lin Yang8, Lin Zou9, Ming-Yan Hei10, Ru-Lai Yang1, Tian-Ming Yuan1, Wei Wen11, Xin-Wen Huang1, Xue-Fan Gu12, Yan-Ling Yang13, Yong-Lan Huang14, Yong-Jun Zhang12, Yong-Guo Yu7, Zheng-Feng Xu15, Wen-Hao Zhou16, Zheng-Yan Zhao17.   

Abstract

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Mesh：

Year:  2022        PMID： 35292922     DOI： 10.1007/s12519-022-00522-8

Source DB:  PubMed          Journal:  World J Pediatr            Impact factor:   2.764


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  2 in total

1.  Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening.

Authors:  Xuefan Gu; Zhiguo Wang; Jun Ye; Lianshu Han; Wenjuan Qiu
Journal:  Ann Acad Med Singap       Date:  2008-12       Impact factor: 2.473

Review 2.  Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance.

Authors:  Aquillah M Kanzi; James Emmanuel San; Benjamin Chimukangara; Eduan Wilkinson; Maryam Fish; Veron Ramsuran; Tulio de Oliveira
Journal:  Front Genet       Date:  2020-10-23       Impact factor: 4.599
  2 in total
  4 in total

Review 1.  [Research advances in the clinical genetics of leukodystrophy in children].

Authors:  Zhe-Lan Huang; Wen-Hao Zhou
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2022-06-15

2.  A Survival Status Classification Model for Osteosarcoma Patients Based on E-CNN-SVM and Multisource Data Fusion.

Authors:  Qiang Zhang; Peng Peng; Yi Gu
Journal:  Comput Intell Neurosci       Date:  2022-07-09

3.  Current attitudes and preconceptions on newborn genetic screening in the Chinese reproductive-aged population.

Authors:  Xin Wang; Xian-Wei Guan; Yan-Yun Wang; Zhi-Lei Zhang; Ya-Hong Li; Pei-Ying Yang; Yun Sun; Tao Jiang
Journal:  Orphanet J Rare Dis       Date:  2022-08-26       Impact factor: 4.303

Review 4.  Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review.

Authors:  Syahirah Amnani Suhaimi; Ihsan Nazurah Zulkipli; Hazim Ghani; Mas Rina Wati Abdul-Hamid
Journal:  Front Pediatr       Date:  2022-09-29       Impact factor: 3.569
  4 in total

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