High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing-Reference-Cited by-同舟云学术

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High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing

Published:2017-08-30 Issue:6 Volume:92 Page:594-605
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Kim Yoo-Mi¹^ORCID,Lee Yun-Jin¹,Park Jae Hong¹,Lee Hyoung-Doo¹,Cheon Chong Kun¹,Kim Su-Young¹,Hwang Jae-Yeon²,Jang Ja-Hyun³,Yoo Han-Wook⁴

Affiliation:

1. Department of Pediatrics; Pusan National University Children's Hospital; Yangsan Korea

2. Department of Radiology, Pusan National University College of Medicine; Pusan National University Children's Hospital; Yangsan Korea

3. Laboratory Medicine; Green Cross Genome; Yongin Korea

4. Medical Genetics Center, Asan Medical Center Children's Hospital; University of Ulsan College of Medicine; Seoul Korea

Funder

Research Institute for Convergence of Biomedical Science and Technology

Pusan National University Yangsan Hospital

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13038/fullpdf

Reference44 articles.

1. Genetic techniques in the evaluation of short stature;Romero;Endocrinol Metab Clin North Am,2016

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;Xue;Genet Med,2015

3. Whole exome sequencing to identify genetic causes of short stature;Guo;Horm Res Paediatr,2014

4. Next-generation sequencing identifies rare variants associated with Noonan syndrome;Chen;Proc Natl Acad Sci USA,2014

5. Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy;Wooderchak-Donahue;Am J Med Genet A,2015

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3. Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience;Annals of Pediatric Endocrinology & Metabolism;2024-02-29

4. Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience";Annals of Pediatric Endocrinology & Metabolism;2024-02-29

5. Investigation of (Epi)genetic causes in syndromic short children born small for gestational age;European Journal of Medical Genetics;2023-11

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