Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
出版年份 2019 全文链接
标题
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
作者
关键词
-
出版物
Nature Communications
Volume 10, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-06-07
DOI
10.1038/s41467-019-10482-9
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。- Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum
- (2018) Andrea Ganna et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders
- (2018) Takeshi Mizuguchi et al. HUMAN MOLECULAR GENETICS
- De novo variants in neurodevelopmental disorders with epilepsy
- (2018) Henrike O. Heyne et al. NATURE GENETICS
- Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder
- (2018) Atsushi Takata et al. Cell Reports
- De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders
- (2018) Tenpei Akita et al. Annals of Clinical and Translational Neurology
- Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
- (2018) Mari E. K. Niemi et al. NATURE
- De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
- (2018) Katherine L. Helbig et al. AMERICAN JOURNAL OF HUMAN GENETICS
- ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
- (2017) Ingrid E. Scheffer et al. EPILEPSIA
- Epilepsy in neurofibromatosis type 1
- (2017) Anthony Pecoraro et al. EPILEPSY & BEHAVIOR
- HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
- (2017) Stéphanie Moortgat et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Ultra-rare genetic variation in common epilepsies: a case-control sequencing study
- (2017) Andrew S Allen et al. LANCET NEUROLOGY
- Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
- (2017) Jack A Kosmicki et al. NATURE GENETICS
- Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
- (2017) Daniel J Weiner et al. NATURE GENETICS
- Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
- (2017) Jennifer E. Posey et al. NEW ENGLAND JOURNAL OF MEDICINE
- Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge–Weber Syndrome
- (2017) Carl E. Stafstrom et al. Frontiers in Neurology
- Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
- (2016) Katherine L. Helbig et al. GENETICS IN MEDICINE
- dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
- (2016) Xiaoming Liu et al. HUMAN MUTATION
- The genetic landscape of the epileptic encephalopathies of infancy and childhood
- (2016) Amy McTague et al. LANCET NEUROLOGY
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
- (2016) Giulio Genovese et al. NATURE NEUROSCIENCE
- De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia
- (2016) Atsushi Takata et al. NEURON
- Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
- (2015) Saadet Mercimek-Mahmutoglu et al. EPILEPSIA
- 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 Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
- (2015) et al. SCIENCE
- An analytical framework for optimizing variant discovery from personal genomes
- (2015) Gareth Highnam et al. Nature Communications
- Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
- (2015) Masao Nagasaki et al. Nature Communications
- Second-generation PLINK: rising to the challenge of larger and richer datasets
- (2015) Christopher C Chang et al. GigaScience
- Synaptic, transcriptional and chromatin genes disrupted in autism
- (2014) Silvia De Rubeis et al. NATURE
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- Mosaic Deletion of theNF1Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1
- (2013) Ana Lisa Taylor Tavares et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Clinical analysis of catastrophic epilepsy in infancy and early childhood: Results of the Far-East Asia Catastrophic Epilepsy (FACE) study group
- (2013) Hirokazu Oguni et al. BRAIN & DEVELOPMENT
- Epilepsy in individuals with neurofibromatosis type 1
- (2013) Adam P. Ostendorf et al. EPILEPSIA
- Epilepsy surgery in Neurofibromatosis Type 1
- (2013) Carmen Barba et al. EPILEPSY RESEARCH
- Broad Phenotypic Heterogeneity due to a Novel SCN1A Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus
- (2013) Hadassa Goldberg-Stern et al. JOURNAL OF CHILD NEUROLOGY
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
- Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
- (2013) Christian P Schaaf et al. NATURE GENETICS
- Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements
- (2012) Guy Froyen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
- (2012) Wenqing Fu et al. NATURE
- Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
- (2012) Santhosh Girirajan et al. NEW ENGLAND JOURNAL OF MEDICINE
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- 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
- Predicting the functional impact of protein mutations: application to cancer genomics
- (2011) Boris Reva et al. NUCLEIC ACIDS RESEARCH
- Epileptic seizures in neurofibromatosis type 1 are related to intracranial tumors but not to neurofibromatosis bright objects
- (2011) Hsiang-Yao Hsieh et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
- (2010) Anne T. Berg et al. EPILEPSIA
- Common SNPs explain a large proportion of the heritability for human height
- (2010) Jian Yang et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- Analytical approaches to RNA profiling data for the identification of genes enriched in specific cells
- (2010) Joseph D. Dougherty et al. NUCLEIC ACIDS RESEARCH
- Identification of deleterious mutations within three human genomes
- (2009) S. Chun et al. GENOME RESEARCH
- Finding the missing heritability of complex diseases
- (2009) Teri A. Manolio et al. NATURE
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- ToppGene Suite for gene list enrichment analysis and candidate gene prioritization
- (2009) J. Chen et al. NUCLEIC ACIDS RESEARCH
- Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data
- (2008) Bingshan Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Neurofibromatosis type 1 and infantile spasms
- (2008) Martino Ruggieri et al. CHILDS NERVOUS SYSTEM
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