标题
De novo variants in neurodevelopmental disorders with epilepsy
作者
关键词
-
出版物
NATURE GENETICS
Volume 50, Issue 7, Pages 1048-1053
出版商
Springer Nature
发表日期
2018-06-22
DOI
10.1038/s41588-018-0143-7
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。- Gene annotation bias impedes biomedical research
- (2018) Winston A. Haynes et al. Scientific Reports
- ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
- (2017) Ingrid E. Scheffer et al. EPILEPSIA
- The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability
- (2017) Tarjinder Singh et al. NATURE GENETICS
- 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
- Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
- (2017) Peter Huppke et al. Nature Communications
- Epileptic encephalopathy: Use and misuse of a clinically and conceptually important concept
- (2016) Katherine B. Howell et al. EPILEPSIA
- Clinical exome sequencing: results from 2819 samples reflecting 1000 families
- (2016) Daniel Trujillano et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
- (2016) Katherine L. Helbig et al. GENETICS IN MEDICINE
- Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
- (2016) Natalie Trump et al. JOURNAL OF MEDICAL GENETICS
- 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
- Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
- (2016) Stefan H Lelieveld et al. NATURE NEUROSCIENCE
- STXBP1encephalopathy
- (2016) Hannah Stamberger et al. NEUROLOGY
- g:Profiler—a web server for functional interpretation of gene lists (2016 update)
- (2016) Jüri Reimand et al. NUCLEIC ACIDS RESEARCH
- 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
- Review of Commercially Available Epilepsy Genetic Panels
- (2015) Chelsea Chambers et al. Journal of Genetic Counseling
- De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy
- (2015) Maxime G Blanchard et al. JOURNAL OF MEDICAL GENETICS
- Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database
- (2015) Jinchen Li et al. MOLECULAR PSYCHIATRY
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- Advancing epilepsy genetics in the genomic era
- (2015) Candace T. Myers et al. Genome Medicine
- De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
- (2014) Silke Appenzeller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Performance comparison of four exome capture systems for deep sequencing
- (2014) Chandra Sekhar Chilamakuri et al. BMC GENOMICS
- Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions
- (2014) Kelly D. Farwell et al. GENETICS IN MEDICINE
- 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
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- Autism spectrum disorder severity reflects the average contribution of de novo and familial influences
- (2014) Elise B. Robinson et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- De Novo Mutations in Moderate or Severe Intellectual Disability
- (2014) Fadi F. Hamdan et al. PLoS Genetics
- De novo mutations in histone-modifying genes in congenital heart disease
- (2013) Samir Zaidi et al. NATURE
- Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients
- (2013) S. Weckhuysen et al. NEUROLOGY
- GLUT1 deficiency syndrome 2013: Current state of the art
- (2013) Valentina De Giorgis et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- Targeted next generation sequencing as a diagnostic tool in epileptic disorders
- (2012) Johannes R. Lemke et al. EPILEPSIA
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- (2012) Anita Rauch et al. LANCET
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
- (2012) Wendy S. Rubinstein et al. NUCLEIC ACIDS RESEARCH
- KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
- (2011) Sarah Weckhuysen et al. ANNALS OF NEUROLOGY
- 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
- The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors
- (2010) Gerald D. Fischbach et al. NEURON
- Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
- (2008) C Depienne et al. JOURNAL OF MEDICAL GENETICS
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