标题
Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease
作者
关键词
-
出版物
Annals of Clinical and Translational Neurology
Volume 5, Issue 7, Pages 832-842
出版商
Wiley
发表日期
2018-05-25
DOI
10.1002/acn3.582
参考文献
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。- Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy
- (2017) Henne Holstege 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
- Progranulin, lysosomal regulation and neurodegenerative disease
- (2017) Aimee W. Kao et al. NATURE REVIEWS NEUROSCIENCE
- Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
- (2017) Céline Bellenguez et al. NEUROBIOLOGY OF AGING
- A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease
- (2016) Jan Verheijen et al. ACTA NEUROPATHOLOGICA
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Coding mutations inSORL1and Alzheimer disease
- (2015) Badri N. Vardarajan et al. ANNALS OF NEUROLOGY
- SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease
- (2015) G Nicolas et al. MOLECULAR PSYCHIATRY
- Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
- (2015) E. T. Cirulli et al. SCIENCE
- Rare variant association studies: considerations, challenges and opportunities
- (2015) Paul L Auer et al. Genome Medicine
- Disease-related mutations among Caribbean Hispanics with familial dementia
- (2014) Joseph H. Lee et al. Molecular Genetics & Genomic Medicine
- Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
- (2013) Jean-Charles Lambert et al. NATURE GENETICS
- Current status and new features of the Consensus Coding Sequence database
- (2013) Catherine M. Farrell et al. NUCLEIC ACIDS RESEARCH
- Progranulin Mutations as Risk Factors for Alzheimer Disease
- (2013) David C. Perry et al. JAMA Neurology
- High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease
- (2012) C Pottier et al. MOLECULAR PSYCHIATRY
- Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families
- (2012) Carlos Cruchaga et al. PLoS One
- Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
- (2012) A. Keinan et al. SCIENCE
- The diagnosis of mild cognitive impairment due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer's disease
- (2011) Marilyn S. Albert et al. Alzheimers & Dementia
- Distribution of allele frequencies and effect sizes and their interrelationships for common genetic susceptibility variants
- (2011) J.-H. Park et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Alzheimer Disease–like Phenotype Associated With the c.154delA Mutation in Progranulin
- (2010) Brendan J. Kelley et al. ARCHIVES OF NEUROLOGY
- METAL: fast and efficient meta-analysis of genomewide association scans
- (2010) C. J. Willer et al. BIOINFORMATICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationPublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More