The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review
出版年份 2014 全文链接
标题
The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review
作者
关键词
Mutation, Inheritance, Genome-wide associations studies, ENU mutagenesis, Human population dynamics
出版物
JOURNAL OF APPLIED GENETICS
Volume 55, Issue 3, Pages 319-327
出版商
Springer Nature
发表日期
2014-03-20
DOI
10.1007/s13353-014-0203-3
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。- Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia
- (2013) Dana Gabrikova et al. JOURNAL OF APPLIED GENETICS
- Split-hand/foot malformation - molecular cause and implications in genetic counseling
- (2013) Anna Sowińska-Seidler et al. JOURNAL OF APPLIED GENETICS
- Unique frequencies of HFE gene variants in Roma/Gypsies
- (2012) Dana Gabriková et al. JOURNAL OF APPLIED GENETICS
- ENU mutagenesis in mice identifies candidate genes for hypogonadism
- (2012) Jeffrey Weiss et al. MAMMALIAN GENOME
- Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
- (2012) Wenqing Fu et al. NATURE
- Late Pleistocene climate change and the global expansion of anatomically modern humans
- (2012) A. Eriksson et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
- (2012) A. Keinan et al. SCIENCE
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- Evidence of Inbreeding Depression on Human Height
- (2012) Ruth McQuillan et al. PLoS Genetics
- Human Congenital Diseases with Mixed Modes of Inheritance Have a Shortage of Recessive Disease. A Demographic Scenario?
- (2011) N. Avrion Mitchison et al. ANNALS OF HUMAN GENETICS
- Charcot-marie-tooth disease subtypes and genetic testing strategies
- (2011) Anita S.D. Saporta et al. ANNALS OF NEUROLOGY
- Random mutagenesis of the mouse genome: a strategy for discovering gene function and the molecular basis of disease
- (2010) Nhung Nguyen et al. AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
- Clinical consequences of heterozygosity for autosomal-recessive diseases*,**
- (2010) F. Vogel CLINICAL GENETICS
- Rate, molecular spectrum, and consequences of human mutation
- (2010) M. Lynch PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Deep resequencing reveals excess rare recent variants consistent with explosive population growth
- (2010) Alex Coventry et al. Nature Communications
- The Characterization of Twenty Sequenced Human Genomes
- (2010) Kimberly Pelak et al. PLoS Genetics
- Autosomal recessive diseases among the Athabaskans of the Southwestern United States: Recent advances and implications for the future
- (2009) Robert P. Erickson AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Clinical Significance of Complement Deficiencies
- (2009) H. David Pettigrew et al. Annals of the New York Academy of Sciences
- The evolution of human artistic creativity
- (2009) Gillian M. Morriss-Kay JOURNAL OF ANATOMY
- The genetics of inbreeding depression
- (2009) Deborah Charlesworth et al. NATURE REVIEWS GENETICS
- Consanguinity, human evolution, and complex diseases
- (2009) A. H. Bittles et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- ENU Mutagenesis, a Way Forward to Understand Gene Function
- (2008) Abraham Acevedo-Arozena et al. Annual Review of Genomics and Human Genetics
- Natural Selection on Genes that Underlie Human Disease Susceptibility
- (2008) Ran Blekhman et al. CURRENT BIOLOGY
- A meta-analysis of nonsense mutations causing human genetic disease
- (2008) Matthew Mort et al. HUMAN MUTATION
- From ENU mutagenesis to population genetics
- (2008) N. Avrion Mitchison et al. MAMMALIAN GENOME
- Proportionally more deleterious genetic variation in European than in African populations
- (2008) Kirk E. Lohmueller et al. NATURE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAdd 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 Now