Revealing rate-limiting steps in complex disease biology: The crucial importance of studying rare, extreme-phenotype families
出版年份 2016 全文链接
标题
Revealing rate-limiting steps in complex disease biology: The crucial importance of studying rare, extreme-phenotype families
作者
关键词
-
出版物
BIOESSAYS
Volume 38, Issue 6, Pages 578-586
出版商
Wiley
发表日期
2016-04-11
DOI
10.1002/bies.201500203
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。- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
- (2015) Jessica X. Chong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns
- (2015) Tychele N. Turner et al. HUMAN MOLECULAR GENETICS
- Recent advances in understanding the genetic architecture of type 2 diabetes
- (2015) Karen L. Mohlke et al. HUMAN MOLECULAR GENETICS
- Loss of δ-catenin function in severe autism
- (2015) Tychele N. Turner et al. NATURE
- Genetic studies of body mass index yield new insights for obesity biology
- (2015) Adam E. Locke et al. NATURE
- Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo
- (2015) Matthew T Maurano et al. NATURE GENETICS
- Unraveling architecture of the pluripotent genome
- (2014) Jennifer E Phillips-Cremins CURRENT OPINION IN CELL BIOLOGY
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- Defining the role of common variation in the genomic and biological architecture of adult human height
- (2014) Andrew R Wood et al. NATURE GENETICS
- Distilling Pathophysiology from Complex Disease Genetics
- (2013) Aravinda Chakravarti et al. CELL
- Discovery and refinement of loci associated with lipid levels
- (2013) Cristen J Willer et al. NATURE GENETICS
- The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
- (2013) Danielle Welter et al. NUCLEIC ACIDS RESEARCH
- Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
- (2013) B. Coste et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Topological domains in mammalian genomes identified by analysis of chromatin interactions
- (2012) Jesse R. Dixon et al. NATURE
- Genomic contributions to Mendelian disease
- (2011) A. Chakravarti GENOME RESEARCH
- Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability
- (2010) Eileen Sproat Emison et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mendelian disorders and multifactorial traits: the big divide or one for all?
- (2010) Stylianos E. Antonarakis et al. NATURE REVIEWS GENETICS
- δ-Catenin Is Required for the Maintenance of Neural Structure and Function in Mature Cortex In Vivo
- (2009) Cheryl Matter et al. NEURON
- Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
- (2009) L. A. Hindorff et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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