Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia-Reference-Cited by-同舟云学术

Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia

Published:2020-07-23 Issue:1 Volume:12 Page:48-62
ISSN:2040-1116
Container-title:Journal of Diabetes Investigation
language:en
Short-container-title:J. Diabetes Investig.

Author:

Ding Yu¹^ORCID,Li Niu²,Lou Dan³,Zhang Qianwen¹,Chang Guoying¹,Li Juan¹,Li Xin¹,Li Qun¹,Huang Xiaodong¹,Wang Jian²,Jiang Fan⁴,Wang Xiumin¹

Affiliation:

1. Department of Endocrinology and Metabolism Shanghai Children’s Medical Center Shanghai Jiaotong University School of Medicine Shanghai China

2. Department of Medical Genetics and Molecular Diagnostic Laboratory Shanghai Children’s Medical Center Shanghai Jiaotong University School of Medicine Shanghai China

3. Department of Pediatrics the First Affiliated Hospital of Henan University of Science and Technology Henan University of Science and Technology Luoyang China

4. Department of Developmental and Behavioral Pediatrics Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine Shanghai China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

General Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdi.13322

Reference39 articles.

1. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

2. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

3. What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?

4. Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

5. Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

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