Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
出版年份 2017 全文链接
标题
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume 20, Issue 6, Pages 645-654
出版商
Springer Nature
发表日期
2017-11-03
DOI
10.1038/gim.2017.162
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。- Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement
- (2017) Zornitza Stark et al. GENETICS IN MEDICINE
- The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results
- (2017) Dustin Baldridge et al. GENETICS IN MEDICINE
- Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications
- (2017) Erica D. Smith et al. HUMAN MUTATION
- Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
- (2017) Jennifer E. Posey et al. NEW ENGLAND JOURNAL OF MEDICINE
- Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
- (2016) Laura M. Amendola et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Autosomal-Recessive Mutations in AP3B2 , Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy
- (2016) Mirna Assoum et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
- (2016) Andrea Angius et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Autosomal recessive truncatingMAB21L1mutation associated with a syndromic scrotal agenesis
- (2016) A.-L. Bruel et al. CLINICAL GENETICS
- Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities
- (2016) C. Thauvin-Robinet et al. CLINICAL GENETICS
- Rett-like phenotypes: expanding the genetic heterogeneity to theKCNA2gene and first familial case ofCDKL5-related disease
- (2016) L. Allou et al. CLINICAL GENETICS
- Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
- (2016) J. Thevenon et al. CLINICAL GENETICS
- Autosomal recessive mutations inTHOC6cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping
- (2016) J.S. Amos et al. CLINICAL GENETICS
- Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
- (2016) Salima El Chehadeh et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Recommendations for the integration of genomics into clinical practice
- (2016) Sarah Bowdin et al. GENETICS IN MEDICINE
- Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers
- (2016) Aaron M. Wenger et al. GENETICS IN MEDICINE
- Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
- (2016) Katherine L. Helbig et al. GENETICS IN MEDICINE
- Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations
- (2016) Jung Min Ko et al. JOURNAL OF CHILD NEUROLOGY
- Genetic Misdiagnoses and the Potential for Health Disparities
- (2016) Arjun K. Manrai et al. NEW ENGLAND JOURNAL OF MEDICINE
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
- (2015) Jessica X. Chong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
- (2015) Sophie Nambot et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
- (2015) Anthony A. Philippakis et al. HUMAN MUTATION
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
- (2015) Caroline F Wright et al. LANCET
- Genetic studies in intellectual disability and related disorders
- (2015) Lisenka E. L. M. Vissers et al. NATURE REVIEWS GENETICS
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy
- (2015) Pamela A. Long et al. Journal of the American Heart Association
- 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
- Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
- (2014) Julien Thevenon et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The usefulness of whole-exome sequencing in routine clinical practice
- (2014) Alejandro Iglesias et al. GENETICS IN MEDICINE
- 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
- Large-scale discovery of novel genetic causes of developmental disorders
- (2014) T. W. Fitzgerald et al. NATURE
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders
- (2013) Vandana Shashi et al. GENETICS IN MEDICINE
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
- (2013) Robert C. Green et al. GENETICS IN MEDICINE
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
- (2008) C Sue Richards et al. GENETICS IN MEDICINE
- Why rare diseases are an important medical and social issue
- (2008) Arrigo Schieppati et al. LANCET
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started