Augustine Kong

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Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

Gerard Tromp, Helena Kuivaniemi, Kari Stefansson, 2010, Nature Genetics.

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

Kari Stefansson, Kang Zhang, Gudmar Thorleifsson, 2013, Nature Genetics.

Two newly identified genetic determinants of pigmentation in Europeans

Snæbjörn Pálsson, Kari Stefansson, Gudmar Thorleifsson, 2008, Nature Genetics.

ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

Kari Stefansson, Johan Hansson, Rafael Botella-Estrada, 2008, Nature Genetics.

A genetic risk factor for periodic limb movements in sleep.

Kari Stefansson, Alex Iranzo, Hreinn Stefansson, 2007, The New England journal of medicine.

A direct characterization of human mutation based on microsatellites

Swapan Mallick, Heng Li, Kari Stefansson, 2012, Nature Genetics.

Inheritance of human longevity in Iceland

Kári Stefánsson, Jeffrey R Gulcher, D. Gudbjartsson, 2000, European Journal of Human Genetics.

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

Daniel F. Gudbjartsson, Michael L. Frigge, Kari Stefansson, 2013, Nature.

European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.

Paolo Vineis, Abbas Ghaderi, Simonetta Guarrera, 2011, Human molecular genetics.

Parental origin of sequence variants associated with complex diseases

Daniel F. Gudbjartsson, Michael L. Frigge, Kari Stefansson, 2009, Nature.

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer

Paolo Vineis, Simonetta Guarrera, Giuseppe Matullo, 2010, Nature Genetics.

Association of neuregulin 1 with schizophrenia confirmed in a Scottish population.

Kari Stefansson, Valgerdur Steinthorsdottir, Hreinn Stefansson, 2003, American journal of human genetics.

Edinburgh Research Explorer Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution

Laura J. Scott, Christian Gieger, Yurii S. Aulchenko, 2022 .

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

Kari Stefansson, Brian T Helfand, Torben Hansen, 2011, Nature Genetics.

Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly.

Kari Stefansson, Florian Zink, Gisli Masson, 2017, Blood.

Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies

Yurii S. Aulchenko, Nicole Soranzo, Panagiotis Deloukas, 2009, Nature Genetics.

Discovery of common variants associated with low TSH levels and thyroid cancer risk

Kari Stefansson, Gudmar Thorleifsson, Jon Hrafnkelsson, 2012, Nature Genetics.

A susceptibility gene for late‐onset idiopathic Parkinson's disease

Hreinn Stefánsson, Kári Stefánsson, Jeffrey R Gulcher, 2002, Annals of neurology.

CFH Y402H Confers Similar Risk of Soft Drusen and Both Forms of Advanced AMD

Jian Ge, Paul S. Bernstein, Kari Stefansson, 2005, PLoS medicine.

Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma

Kari Stefansson, Gudmar Thorleifsson, Hreinn Stefansson, 2007, Science.

Single-Tissue and Cross-Tissue Heritability of Gene Expression Via Identity-by-Descent in Related or Unrelated Individuals

Alkes L. Price, Kari Stefansson, Gudmar Thorleifsson, 2011, PLoS genetics.

Sequence variant on 8q24 confers susceptibility to urinary bladder cancer

Tony Fletcher, Paolo Vineis, Simonetta Guarrera, 2008, Nature Genetics.

Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations

Kari Stefansson, Wei Li, Jon Hrafnkelsson, 2009, Nature Genetics.

The gene encoding phosphodiesterase 4D confers risk of ischemic stroke

Mark Gurney, Vilmundur Gudnason, Kari Stefansson, 2003, Nature Genetics.

Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility

Kari Stefansson, Brian T Helfand, William J Catalona, 2009, Nature Genetics.

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution

Laura J. Scott, Christian Gieger, Yurii S. Aulchenko, 2009, PLoS Genetics.

Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases

Daniel F. Gudbjartsson, Kari Stefansson, Runolfur Palsson, 2010, PLoS genetics.

Genetic fine-mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

Christian Gieger, Jason Carey, Steven Wiltshire, 2016 .

A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction

Vilmundur Gudnason, Kari Stefansson, Arshed A Quyyumi, 2006, Nature Genetics.

Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.

Paolo Vineis, Simonetta Guarrera, Giuseppe Matullo, 2014, Human molecular genetics.

Allegro, a new computer program for multipoint linkage analysis

Daniel F. Gudbjartsson, Kristjan Jonasson, Michael L. Frigge, 2000, Nature genetics.

Allegro version 2

Anna Ingolfsdottir, D. Gudbjartsson, A. Kong, 2005, Nature Genetics.

A variant associated with nicotine dependence, lung cancer and peripheral arterial disease

Daniel F. Gudbjartsson, Kari Stefansson, Gudmar Thorleifsson, 2008, Nature.

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Christian Gieger, Alex Doney, Inês Barroso, 2010, Nature Genetics.

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity

Ellen Kampman, Kari Stefansson, Torben Hansen, 2009, Nature Genetics.

Sequence variants from whole genome sequencing a large group of Icelanders

Kari Stefansson, Bjarni V Halldorsson, Florian Zink, 2015, Scientific Data.

Localization of a susceptibility gene for common forms of stroke to 5q12.

Vilmundur Gudnason, Kari Stefansson, Klaus Lindpaintner, 2002, American journal of human genetics.

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

Thomas Meitinger, Pierre Fontanillas, Stefan Johansson, 2014, Nature Genetics.

Rare mutations associating with serum creatinine and chronic kidney disease.

Kari Stefansson, Runolfur Palsson, Aslaug Jonasdottir, 2014, Human molecular genetics.

The Impact of Divergence Time on the Nature of Population Structure: An Example from Iceland

Ole A. Andreassen, Alkes L. Price, Kari Stefansson, 2009, PLoS genetics.

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

Dan M Roden, Kari Stefansson, Gudmar Thorleifsson, 2011, Nature Genetics.

Identification of an imprinted master trans-regulator at the KLF14 locus related to multiple metabolic phenotypes

Mark I. McCarthy, Kourosh R. Ahmadi, Nicole Soranzo, 2011, Nature Genetics.

The Association of a SNP Upstream of INSIG2 with Body Mass Index is Reproduced in Several but Not All Cohorts

Xiaofeng Zhu, Thomas Meitinger, Christoph Lange, 2007, PLoS genetics.

Several common variants modulate heart rate, PR interval and QRS duration

Kari Stefansson, Gudmar Thorleifsson, Aslaug Jonasdottir, 2010, Nature Genetics.

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

Paolo Vineis, Giuseppe Matullo, Kari Stefansson, 2009, Nature Genetics.

Multiple genetic loci for bone mineral density and fractures.

Kari Stefansson, Claus Christiansen, Bjarni V Halldorsson, 2008, The New England journal of medicine.

Sequence Variants in the RNF212 Gene Associate with Genome-Wide Recombination Rate

Kari Stefansson, Gudmar Thorleifsson, Hreinn Stefansson, 2008, Science.

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

Ole A. Andreassen, Daniel F. Gudbjartsson, Erik G. Jönsson, 2012, Nature.

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

Kari Stefansson, Torben Hansen, Niels Grarup, 2014, Nature Genetics.

A common variant on chromosome 9p21 affects the risk of myocardial infarction.

Kari Stefansson, Arshed A Quyyumi, Anna Helgadottir, 2007, Science.

Weighting sequence variants based on their annotation increases power of whole-genome association studies

Anders Albrechtsen, Kari Stefansson, Florian Zink, 2016, Nature Genetics.

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

Kari Stefansson, Brian T Helfand, Gudmar Thorleifsson, 2012, Nature Genetics.

Variants in MTNR1B influence fasting glucose levels

Inês Barroso, Paul Scheet, Nicole Soranzo, 2009, Nature Genetics.

Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31

Kari Stefansson, Evangelos Evangelou, Fernando Rivadeneira, 2014, Nature Genetics.

Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans

Nancy J. Cox, Dan L. Nicolae, Graeme I. Bell, 1999, Nature Genetics.