Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

(2016) Eric M Scott et al.   NATURE GENETICS

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

Identification of a large set of rare complete human knockouts

(2015) Patrick Sulem et al.   NATURE GENETICS

Coronary Heart Disease and Genetic Variants with Low Phospholipase A2 Activity

(2015) Linda M. Polfus et al.   NEW ENGLAND JOURNAL OF MEDICINE

Antisense Inhibition of Apolipoprotein C-III in Patients with Hypertriglyceridemia

(2015) Daniel Gaudet et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identification and characterization of essential genes in the human genome

(2015) T. Wang et al.   SCIENCE

Effect of Darapladib on Major Coronary Events After an Acute Coronary Syndrome

(2014) Michelle L. O’Donoghue et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

The brown fat–enriched secreted factor Nrg4 preserves metabolic homeostasis through attenuation of hepatic lipogenesis

(2014) Guo-Xiao Wang et al.   NATURE MEDICINE

Loss-of-Function Mutations in APOC3 and Risk of Ischemic Vascular Disease

(2014) Anders Berg Jørgensen et al.   NEW ENGLAND JOURNAL OF MEDICINE

Targeting APOC3 in the Familial Chylomicronemia Syndrome

(2014) Daniel Gaudet et al.   NEW ENGLAND JOURNAL OF MEDICINE

Darapladib for Preventing Ischemic Events in Stable Coronary Heart Disease

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

(2014) Janan T. Eppig et al.   NUCLEIC ACIDS RESEARCH

Apolipoprotein C-III

(2013) Murray W. Huff et al.   CIRCULATION RESEARCH

Antisense Oligonucleotide Inhibition of Apolipoprotein C-III Reduces Plasma Triglycerides in Rodents, Nonhuman Primates, and Humans

(2013) Mark J. Graham et al.   CIRCULATION RESEARCH

From Mouse to Human: Evolutionary Genomics Analysis of Human Orthologs of Essential Genes

(2013) Benjamin Georgi et al.   PLoS Genetics

Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data

(2012) Goo Jun et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Towards an encyclopaedia of mammalian gene function: the International Mouse Phenotyping Consortium

(2012) S. D. M. Brown et al.   Disease Models & Mechanisms

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Validity of abbreviated oral fat tolerance tests for assessing postprandial lipemia

(2011) Maria Maraki et al.   CLINICAL NUTRITION

Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci

(2011) Jaspal S Kooner et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Aptamer-Based Multiplexed Proteomic Technology for Biomarker Discovery

(2011) Larry Gold et al.   PLoS One

A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries

(2011) Sheila Fisher et al.   GENOME BIOLOGY

Population Genetic Structure of the People of Qatar

(2010) Haley Hunter-Zinck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Insulin secretion and glucose metabolism in alpha 1,3-galactosyltransferase knock-out pigs compared to wild-type pigs

(2010) Anna Casu et al.   XENOTRANSPLANTATION

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The Pakistan Risk of Myocardial Infarction Study: a resource for the study of genetic, lifestyle and other determinants of myocardial infarction in South Asia

(2009) Danish Saleheen et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

An RNAi Screen of Chromatin Proteins Identifies Tip60-p400 as a Regulator of Embryonic Stem Cell Identity

(2008) Thomas G. Fazzio et al.   CELL

The epidermal growth factor receptor ligands at a glance

(2008) Marlon R. Schneider et al.   JOURNAL OF CELLULAR PHYSIOLOGY

NHERF1Mutations and Responsiveness of Renal Parathyroid Hormone

(2008) Zoubida Karim et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection

(2008) T. I. Pollin et al.   SCIENCE

Humans Lack iGb3 Due to the Absence of Functional iGb3-Synthase: Implications for NKT Cell Development and Transplantation

(2008) Dale Christiansen et al.   PLOS BIOLOGY