Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
Authors
Keywords
-
Journal
Nature Communications
Volume 10, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-06-07
DOI
10.1038/s41467-019-10482-9
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
Add 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 NowAsk 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