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。HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
Stephanie Moortgat et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum
Andrea Ganna et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders
Takeshi Mizuguchi et al.
HUMAN MOLECULAR GENETICS (2018)
De novo variants in neurodevelopmental disorders with epilepsy
Henrike O. Heyne et al.
NATURE GENETICS (2018)
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder
Atsushi Takata et al.
CELL REPORTS (2018)
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders
Tenpei Akita et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2018)
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Mari E. K. Niemi et al.
NATURE (2018)
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Katherine L. Helbig et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
Ingrid E. Scheffer et al.
EPILEPSIA (2017)
Epilepsy in neurofibromatosis type 1
Anthony Pecoraro et al.
EPILEPSY & BEHAVIOR (2017)
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study
Andrew S. Allen et al.
LANCET NEUROLOGY (2017)
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Jack A. Kosmicki et al.
NATURE GENETICS (2017)
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Daniel J. Weiner et al.
NATURE GENETICS (2017)
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Jennifer E. Posey et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge-Weber Syndrome
Carl E. Stafstrom et al.
FRONTIERS IN NEUROLOGY (2017)
ExACtly zero or once A clinically helpful guide to assessing genetic variants in mild epilepsies
Caitlin A. Bennett et al.
NEUROLOGY-GENETICS (2017)
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sebastien Kury et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures
Candace T. Myers et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
Katherine L. Helbig et al.
GENETICS IN MEDICINE (2016)
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
Xiaoming Liu et al.
HUMAN MUTATION (2016)
The genetic landscape of the epileptic encephalopathies of infancy and childhood
Amy McTague et al.
LANCET NEUROLOGY (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
Giulio Genovese et al.
NATURE NEUROSCIENCE (2016)
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia
Atsushi Takata et al.
NEURON (2016)
Understanding Genotypes and Phenotypes in Epileptic Encephalopathies
Ingo Helbig et al.
MOLECULAR SYNDROMOLOGY (2016)
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
Saadet Mercimek-Mahmutoglu et al.
EPILEPSIA (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
Kristin G. Ardlie et al.
SCIENCE (2015)
An analytical framework for optimizing variant discovery from personal genomes
Gareth Highnam et al.
NATURE COMMUNICATIONS (2015)
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
Masao Nagasaki et al.
NATURE COMMUNICATIONS (2015)
Second-generation PLINK: rising to the challenge of larger and richer datasets
Christopher C. Chang et al.
GIGASCIENCE (2015)
Broad Phenotypic Heterogeneity due to a Novel SCN1A Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus
Hadassa Goldberg-Stern et al.
JOURNAL OF CHILD NEUROLOGY (2014)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
The contribution of de novo coding mutations to autism spectrum disorder
Ivan Iossifov et al.
NATURE (2014)
A framework for the interpretation of de novo mutation in human disease
Kaitlin E. Samocha et al.
NATURE GENETICS (2014)
Mosaic Deletion of the NF1 Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1
Ana Lisa Taylor Tavares et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Clinical analysis of catastrophic epilepsy in infancy and early childhood: Results of the Far-East Asia Catastrophic Epilepsy (FACE) study group
Hirokazu Oguni et al.
BRAIN & DEVELOPMENT (2013)
Epilepsy in individuals with neurofibromatosis type I
Adam P. Ostendorf et al.
EPILEPSIA (2013)
Epilepsy surgery in Neurofibromatosis Type 1
Carmen Barba et al.
EPILEPSY RESEARCH (2013)
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Wenqing Fu et al.
NATURE (2013)
De novo mutations in epileptic encephalopathies
Andrew S. Allen et al.
NATURE (2013)
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
Christian P. Schaaf et al.
NATURE GENETICS (2013)
Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements
Guy Froyen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3
Pablo Cingolani et al.
FLY (2012)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Santhosh Girirajan et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Predicting the Functional Effect of Amino Acid Substitutions and Indels
Yongwook Choi et al.
PLOS ONE (2012)
The variant call format and VCFtools
Petr Danecek et al.
BIOINFORMATICS (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
Predicting the functional impact of protein mutations: application to cancer genomics
Boris Reva et al.
NUCLEIC ACIDS RESEARCH (2011)
Epileptic seizures in neurofibromatosis type 1 are related to intracranial tumors but not to neurofibromatosis bright objects
Hsiang-Yao Hsieh et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2011)
Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
Anne T. Berg et al.
EPILEPSIA (2010)
Common SNPs explain a large proportion of the heritability for human height
Jian Yang et al.
NATURE GENETICS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
Analytical approaches to RNA profiling data for the identification of genes enriched in specific cells
Joseph D. Dougherty et al.
NUCLEIC ACIDS RESEARCH (2010)
Neurofibromatosis type 1 and infantile spasms
Martino Ruggieri et al.
CHILDS NERVOUS SYSTEM (2009)
Identification of deleterious mutations within three human genomes
Sung Chun et al.
GENOME RESEARCH (2009)
Finding the missing heritability of complex diseases
Teri A. Manolio et al.
NATURE (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
ToppGene Suite for gene list enrichment analysis and candidate gene prioritization
Jing Chen et al.
NUCLEIC ACIDS RESEARCH (2009)
Statistical power analyses using G*Power 3.1: Tests for correlation and regression analyses
Franz Faul et al.
BEHAVIOR RESEARCH METHODS (2009)
Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
Bingshan Li et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
GenABEL: an R library for genome-wide association analysis
Yurii S. Aulchenko et al.
BIOINFORMATICS (2007)
Prevalence of childhood epilepsy and distribution of epileptic syndromes: A population-based survey in Okayama, Japan
E Oka et al.
EPILEPSIA (2006)