Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions
出版年份 2023 全文链接
标题
Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions
作者
关键词
-
出版物
European Journal of Medical Genetics
Volume 66, Issue 11, Pages 104858
出版商
Elsevier BV
发表日期
2023-09-26
DOI
10.1016/j.ejmg.2023.104858
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay
- (2022) Go Hun Seo et al. MOLECULAR MEDICINE
- Perspectives on the future of dysmorphology
- (2022) Benjamin D. Solomon et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
- (2021) Francisco Martinez-Granero et al. npj Genomic Medicine
- Genetic evaluation in children with short stature
- (2021) Elaine Zhou et al. CURRENT OPINION IN PEDIATRICS
- Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
- (2021) Kandamurugu Manickam et al. GENETICS IN MEDICINE
- 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
- (2021) et al. NEW ENGLAND JOURNAL OF MEDICINE
- Limitations of exome sequencing in detecting rare and undiagnosed diseases
- (2020) Kendall J. Burdick et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Whole-genome sequencing of patients with rare diseases in a national health system
- (2020) Ernest Turro et al. NATURE
- Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
- (2020) Aida M. Bertoli-Avella et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- (Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada
- (2020) Christine Michaels-Igbokwe et al. GENETICS IN MEDICINE
- Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study
- (2020) Jean Tori Pantel et al. JOURNAL OF MEDICAL INTERNET RESEARCH
- Diagnosis of Rare Diseases: a scoping review of clinical decision support systems
- (2020) Jannik Schaaf et al. Orphanet Journal of Rare Diseases
- A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
- (2020) Jasmine L. F. Fung et al. npj Genomic Medicine
- Diagnostic yield of genetic tests in epilepsy
- (2019) Iván Sánchez Fernández et al. NEUROLOGY
- Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan
- (2019) Hiroyuki Mishima et al. JOURNAL OF HUMAN GENETICS
- Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases
- (2019) David Bick et al. JOURNAL OF MEDICAL GENETICS
- The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders
- (2019) Nick Dragojlovic et al. GENETICS IN MEDICINE
- Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective
- (2019) Paulo F. Collett-Solberg et al. Hormone Research in Paediatrics
- Genotype–phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing
- (2019) Mark N. Ziats et al. PEDIATRIC RESEARCH
- New developments in the genetic diagnosis of short stature
- (2018) Youn Hee Jee et al. CURRENT OPINION IN PEDIATRICS
- A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy
- (2018) Katherine B. Howell et al. EPILEPSIA
- Paediatric genomics: diagnosing rare disease in children
- (2018) Caroline F. Wright et al. NATURE REVIEWS GENETICS
- A genetic approach to evaluation of short stature of undetermined cause
- (2018) Philip G Murray et al. Lancet Diabetes & Endocrinology
- Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
- (2017) Tiong Yang Tan et al. JAMA Pediatrics
- Clinical exome sequencing: results from 2819 samples reflecting 1000 families
- (2016) Daniel Trujillano et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Diagnosis and management of Silver–Russell syndrome: first international consensus statement
- (2016) Emma L. Wakeling et al. Nature Reviews Endocrinology
- Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience
- (2015) C. Alexander Valencia et al. Frontiers in Pediatrics
- A systematic review of factors that act as barriers to patient referral to genetic services
- (2014) Türem Delikurt et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- (2014) Hane Lee et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- The Pediatric Assessment Triangle
- (2010) Ronald A. Dieckmann et al. PEDIATRIC EMERGENCY CARE
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search