A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
出版年份 2016 全文链接
标题
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume 18, Issue 11, Pages 1090-1096
出版商
Springer Nature
发表日期
2016-03-04
DOI
10.1038/gim.2016.1
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。- Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
- (2015) Caroline Alby et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
- (2015) Jessica X. Chong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
- (2015) S.L. Sawyer et al. CLINICAL GENETICS
- KIAA0586is Mutated in Joubert Syndrome
- (2015) Ruxandra Bachmann-Gagescu et al. HUMAN MUTATION
- The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
- (2015) Kym Boycott et al. JOURNAL OF MEDICAL GENETICS
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
- (2015) Caroline F Wright et al. LANCET
- Cpipe: a shared variant detection pipeline designed for diagnostic settings
- (2015) Simon P. Sadedin et al. Genome Medicine
- Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
- (2015) Susanne Roosing et al. eLife
- Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
- (2015) Laurel K Willig et al. Lancet Respiratory Medicine
- FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
- (2014) Chandree L. Beaulieu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease
- (2014) Tobias B. Haack et al. BRAIN
- 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
- Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
- (2014) S. E. Soden et al. Science Translational Medicine
- Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy
- (2013) Sietske H. Kevelam et al. BRAIN
- A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
- (2013) Kornelia Neveling et al. HUMAN MUTATION
- PhenoTips: Patient Phenotyping Software for Clinical and Research Use
- (2013) Marta Girdea et al. HUMAN MUTATION
- Rare-disease genetics in the era of next-generation sequencing: discovery to translation
- (2013) Kym M. Boycott et al. NATURE REVIEWS GENETICS
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Bpipe: a tool for running and managing bioinformatics pipelines
- (2012) Simon P. Sadedin et al. BIOINFORMATICS
- Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
- (2012) Salima El Chehadeh-Djebbar et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Exome Sequencing Can Improve Diagnosis and Alter Patient Management
- (2012) T. J. Dixon-Salazar et al. Science Translational Medicine
- Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
- (2012) C. J. Saunders et al. Science Translational Medicine
- Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
- (2011) Abel González-Pérez et al. AMERICAN JOURNAL OF HUMAN GENETICS
- LOVD v.2.0: the next generation in gene variant databases
- (2011) Ivo F. A. C. Fokkema et al. HUMAN MUTATION
- Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
- (2011) Michael A Simpson et al. NATURE GENETICS
- Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
- (2010) William McLaren et al. BIOINFORMATICS
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- A novel form of human STAT1 deficiency impairing early but not late responses to interferons
- (2010) X.-F. Kong et al. BLOOD
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
- (2008) C Sue Richards et al. GENETICS IN MEDICINE
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now