Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels-Reference-Cited by-同舟云学术

Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels

Published:2019 Issue:3 Volume:92 Page:186-195
ISSN:1663-2818
Container-title:Hormone Research in Paediatrics
language:en
Short-container-title:Horm Res Paediatr

Author:

Cabrera-Salcedo Catalina,Hawkes Colin P.,Tyzinski Leah,Andrew Melissa,Labilloy Guillaume,Campos Diego,Feld Amalia,Deodati Annalisa,Hwa Vivian,Hirschhorn Joel N.,Grimberg Adda,Dauber Andrew,

Publisher

S. Karger AG

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Reference29 articles.

1. Dauber A, Rosenfeld RG, Hirschhorn JN. Genetic evaluation of short stature. J Clin Endocrinol Metab. 2014 Sep;99(9):3080–92.

2. Sisley S, Trujillo MV, Khoury J, Backeljauw P. Low incidence of pathology detection and high cost of screening in the evaluation of asymptomatic short children. J Pediatr. 2013 Oct;163(4):1045–51.

3. Dean BB, Lam J, Natoli JL, Butler Q, Aguilar D, Nordyke RJ. Review: use of electronic medical records for health outcomes research: a literature review. Med Care Res Rev. 2009 Dec;66(6):611–38.

4. Cowie MR, Blomster JI, Curtis LH, Duclaux S, Ford I, Fritz F, et al. Electronic health records to facilitate clinical research. Clin Res Cardiol. 2017 Jan;106(1):1–9.

5. Kohane IS. Using electronic health records to drive discovery in disease genomics. Nat Rev Genet. 2011 Jun;12(6):417–28.

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Idiopathic Short Stature: What to Expect from Genomic Investigations;Endocrines;2023-01-09

2. Components of IGF-axis in growth disorders: a systematic review and patent landscape report;Endocrine;2022-05-06

3. A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy;Frontiers in Genetics;2022-02-11

4. Expanding the genetic and phenotypic spectrum of CHD2 ‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy;American Journal of Medical Genetics Part A;2021-10-29

5. Genetic causes of growth hormone insensitivity beyond GHR;Reviews in Endocrine and Metabolic Disorders;2020-10-08