Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy
出版年份 2018 全文链接
标题
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy
作者
关键词
-
出版物
npj Genomic Medicine
Volume 3, Issue 1, Pages -
出版商
Springer Nature America, Inc
发表日期
2018-08-08
DOI
10.1038/s41525-018-0061-8
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial
- (2018) Kurt D Christensen et al. GENETICS IN MEDICINE
- Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature
- (2018) Katharina Schwarze et al. GENETICS IN MEDICINE
- The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
- (2018) Josh E. Petrikin et al. npj Genomic Medicine
- Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy
- (2017) Jana Neupauerová et al. Genetic Testing and Molecular Biomarkers
- Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1 -associated neurodevelopmental disorder (DAND) phenotype
- (2017) Li Chen et al. HUMAN MUTATION
- Early-Life Epilepsies and the Emerging Role of Genetic Testing
- (2017) Anne T. Berg et al. JAMA Pediatrics
- Indexcov: fast coverage quality control for whole-genome sequencing
- (2017) Brent S Pedersen et al. GigaScience
- Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study
- (2016) Eija Gaily et al. EPILEPSIA
- A framework for the detection of de novo mutations in family-based sequencing data
- (2016) Laurent C Francioli et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Novel de novoEEF1A2missense mutations causing epilepsy and intellectual disability
- (2016) Wayne W.K. Lam et al. Molecular Genetics & Genomic Medicine
- Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion
- (2015) Nicholas M. Allen et al. EPILEPSIA
- SCN8Amutations in Chinese children with early onset epilepsy and intellectual disability
- (2015) Weijing Kong et al. EPILEPSIA
- Chromosomal microarray in unexplained severe early onset epilepsy – A single centre cohort
- (2015) Nicholas M. Allen et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- 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
- Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene
- (2015) José Pedro Vieira et al. INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
- Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy
- (2015) Semra Gürsoy et al. JOURNAL OF CHILD NEUROLOGY
- RecessiveDEAF1mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy
- (2015) Anna Rajab et al. JOURNAL OF MEDICAL GENETICS
- A roadmap for precision medicine in the epilepsies
- (2015) LANCET NEUROLOGY
- SpeedSeq: ultra-fast personal genome analysis and interpretation
- (2015) Colby Chiang et al. NATURE METHODS
- Phenolyzer: phenotype-based prioritization of candidate genes for human diseases
- (2015) Hui Yang et al. NATURE METHODS
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems
- (2014) Anneke T. Vulto-van Silfhout et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications
- (2014) Przemyslaw Szafranski et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Emerging role of CaMKII in neuropsychiatric disease
- (2014) A.J. Robison TRENDS IN NEUROSCIENCES
- LUMPY: a probabilistic framework for structural variant discovery
- (2014) Ryan M Layer et al. GENOME BIOLOGY
- Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy
- (2013) Hirofumi Kodera et al. EPILEPSIA
- Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
- (2013) Krishna R. Veeramah et al. EPILEPSIA
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
- (2013) Gemma L Carvill et al. NATURE GENETICS
- Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients
- (2013) S. Weckhuysen et al. NEUROLOGY
- GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations
- (2013) Umadevi Paila et al. PLoS Computational Biology
- Targeted next generation sequencing as a diagnostic tool in epileptic disorders
- (2012) Johannes R. Lemke et al. EPILEPSIA
- Clinical review of genetic epileptic encephalopathies
- (2012) Grace J. Noh et al. European Journal of Medical Genetics
- Epileptic Encephalopathies in Infants and Children
- (2012) Douglas R. Nordli JOURNAL OF CLINICAL NEUROPHYSIOLOGY
- Determinants of Health Care Use in a Population-Based Leukodystrophy Cohort
- (2012) Clint Nelson et al. JOURNAL OF PEDIATRICS
- The variant call format and VCFtools
- (2011) P. Danecek et al. BIOINFORMATICS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Epilepsy caused by CDKL5 mutations
- (2010) Maija Castrén et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
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