Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

The deleterious mutation load is insensitive to recent population history

(2014) Yuval B Simons et al.   NATURE GENETICS

The Finnish Disease Heritage Database (FinDis) Update-A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era

(2013) Anne Polvi et al.   HUMAN MUTATION

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

(2013) Unnur Styrkarsdottir et al.   NATURE

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Genetic Architecture of Vitamin B12 and Folate Levels Uncovered Applying Deeply Sequenced Large Datasets

(2013) Niels Grarup et al.   PLoS Genetics

Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men

(2012) Xiaoling Lin et al.   HUMAN MOLECULAR GENETICS

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

(2012) Thorlakur Jonsson et al.   NATURE

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

(2012) Julius Gudmundsson et al.   NATURE GENETICS

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

(2012) Jeroen R Huyghe et al.   NATURE GENETICS

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Genetic Predictors of Fibrin D-Dimer Levels in Healthy Adults

(2011) Nicholas L. Smith et al.   CIRCULATION

Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure

(2011) Vanessa Vedrenne et al.   JOURNAL OF HEPATOLOGY

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

Metabonomic, transcriptomic, and genomic variation of a population cohort

(2010) Michael Inouye et al.   Molecular Systems Biology

A population-specific HTR2B stop codon predisposes to severe impulsivity

(2010) Laura Bevilacqua et al.   NATURE

An Immune Response Network Associated with Blood Lipid Levels

(2010) Michael Inouye et al.   PLoS Genetics

Thirty-five-year trends in cardiovascular risk factors in Finland

(2009) E. Vartiainen et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Genetically Elevated Lipoprotein(a) and Increased Risk of Myocardial Infarction

(2009) Pia R. Kamstrup   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genetic Variants Associated with Lp(a) Lipoprotein Level and Coronary Disease

(2009) Robert Clarke et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cohort Profile: The Cardiovascular Risk in Young Finns Study

(2008) O. T Raitakari et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Proportionally more deleterious genetic variation in European than in African populations

(2008) Kirk E. Lohmueller et al.   NATURE

Common variants of FUT2 are associated with plasma vitamin B12 levels

(2008) Aditi Hazra et al.   NATURE GENETICS

McKusick's Online Mendelian Inheritance in Man (OMIM(R))

(2008) J. Amberger et al.   NUCLEIC ACIDS RESEARCH

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

(2008) T. I. Pollin et al.   SCIENCE