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。Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene iscovery
Eric M. Scott et al.
NATURE GENETICS (2016)
Health and population effects of rare gene knockouts in adult humans with related parents
Vagheesh M. Narasimhan et al.
SCIENCE (2016)
Identification of a large set of rare complete human knockouts
Patrick Sulem et al.
NATURE GENETICS (2015)
Coronary Heart Disease and Genetic Variants with Low Phospholipase A2 Activity
Linda M. Polfus et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Antisense Inhibition of Apolipoprotein C-III in Patients with Hypertriglyceridemia
Daniel Gaudet et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Identification and characterization of essential genes in the human genome
Tim Wang et al.
SCIENCE (2015)
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
Ron Do et al.
NATURE (2015)
The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease
Janan T. Eppig et al.
NUCLEIC ACIDS RESEARCH (2015)
Effect of Darapladib on Major Coronary Events After an Acute Coronary Syndrome The SOLID-TIMI 52 Randomized Clinical Trial
Michelle L. O'Donoghue et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
A polygenic burden of rare disruptive mutations in schizophrenia
Shaun M. Purcell et al.
NATURE (2014)
A framework for the interpretation of de novo mutation in human disease
Kaitlin E. Samocha et al.
NATURE GENETICS (2014)
The brown fat-enriched secreted factor Nrg4 preserves metabolic homeostasis through attenuation of hepatic lipogenesis
Guo-Xiao Wang et al.
NATURE MEDICINE (2014)
Loss-of-Function Mutations in APOC3 and Risk of Ischemic Vascular Disease
Anders Berg Jorgensen et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Targeting APOC3 in the Familial Chylomicronemia Syndrome
Daniel Gaudet et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Darapladib for Preventing Ischemic Events in Stable Coronary Heart Disease
Harvey D. White et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease
Jacy Crosby et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Apolipoprotein C-III Going Back to the Future for a Lipid Drug Target
Murray W. Huff et al.
CIRCULATION RESEARCH (2013)
Antisense Oligonucleotide Inhibition of Apolipoprotein C-III Reduces Plasma Triglycerides in Rodents, Nonhuman Primates, and Humans
Mark J. Graham et al.
CIRCULATION RESEARCH (2013)
From Mouse to Human: Evolutionary Genomics Analysis of Human Orthologs of Essential Genes
Benjamin Georgi et al.
PLOS GENETICS (2013)
Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data
Goo Jun et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Towards an encyclopaedia of mammalian gene function: the International Mouse Phenotyping Consortium
Steve D. M. Brown et al.
DISEASE MODELS & MECHANISMS (2012)
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
Jacob A. Tennessen et al.
SCIENCE (2012)
Validity of abbreviated oral fat tolerance tests for assessing postprandial lipemia
Maria Maraki et al.
CLINICAL NUTRITION (2011)
Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci
Jaspal S. Kooner et al.
NATURE GENETICS (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries
Sheila Fisher et al.
GENOME BIOLOGY (2011)
Population Genetic Structure of the People of Qatar
Haley Hunter-Zinck et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Robust relationship inference in genome-wide association studies
Ani Manichaikul et al.
BIOINFORMATICS (2010)
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
William McLaren et al.
BIOINFORMATICS (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
Aptamer-Based Multiplexed Proteomic Technology for Biomarker Discovery
Larry Gold et al.
PLOS ONE (2010)
Insulin secretion and glucose metabolism in alpha 1,3-galactosyltransferase knock-out pigs compared to wild-type pigs
Anna Casu et al.
XENOTRANSPLANTATION (2010)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
The Pakistan Risk of Myocardial Infarction Study: a resource for the study of genetic, lifestyle and other determinants of myocardial infarction in South Asia
Danish Saleheen et al.
EUROPEAN JOURNAL OF EPIDEMIOLOGY (2009)
The Epidermal Growth Factor Receptor Ligands at a Glance
Marlon R. Schneider et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2009)
An RNAi screen of chromatin proteins identifies Tip60-p400 as a regulator of embryonic stem cell identity
Thomas G. Fazzio et al.
CELL (2008)
NHERF1 mutations and responsiveness of renal parathyroid hormone
Zoubida Karim et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection
Toni I. Pollin et al.
SCIENCE (2008)
Humans lack iGb3 due to the absence of functional iGb3-synthase: Implications for NKT cell development and transplantation
Dale Christiansen et al.
PLOS BIOLOGY (2008)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Tissue-specific regulation of Sodium/Proton exchanger isoform 3 activity in Na+/H+ exchanger regulatory factor 1 (NHERF1) null mice
Rakhilya Murtazina et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Glucose intolerance in a xenotransplantation model: studies in alpha-gal knockout mice
Kirsten Dahl et al.
APMIS (2006)
Principal components analysis corrects for stratification in genome-wide association studies
Alkes L. Price et al.
NATURE GENETICS (2006)
Characterization of the human lung CYP2F1 gene and identification of a novel lung-specific binding motif
BA Carr et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
The p400 complex is an essential E1A transformation target
M Fuchs et al.
CELL (2001)
Protein function in the post-genomic era
D Eisenberg et al.
NATURE (2000)
Intestinal trehalase activity in a UK population: establishing a normal range and the effect of disease
IA Murray et al.
BRITISH JOURNAL OF NUTRITION (2000)