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List of works by Patrick Sulem

A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma

scientific article published on 10 June 2011

A Missense Variant in PLEC Increases Risk of Atrial Fibrillation

scientific article published in October 2017

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

scientific article published on 16 April 2019

A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease

scientific article published on September 2015

A common variant associated with prostate cancer in European and African populations

scientific article published on 7 May 2006

A common variant at 8q24.21 is associated with renal cell cancer.

scientific article

A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation

scientific article

A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.

scientific article published on 19 September 2010

A genome-wide association study of early menopause and the combined impact of identified variants

scientific article published on 9 January 2013

A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma

scientific article

A genome-wide association study yields five novel thyroid cancer risk loci

scientific article published on 14 February 2017

A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome

scientific article published on 24 March 2022

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

scientific article published on 25 September 2011

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

scientific article published in Nature Communications

A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

scientific article published on 14 January 2019

A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci

scientific journal article

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

scientific article

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 09 August 2016

A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma

scientific article

A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences

scientific article

A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta

scientific article published on 24 March 2018

A rare missense variant in associates with lower cholesterol levels

article published in 2018

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

article by Hannes Helgason et al published 15 September 2013 in Nature Genetics

A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease

scientific article published on 7 April 2017

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

scientific article

A sequence variant associating with educational attainment also affects childhood cognition

scientific article

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

scientific article

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

scientific article published on 28 October 2012

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

scientific article published on 17 May 2018

A variant in FTO shows association with melanoma risk not due to BMI

scientific article

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

scientific article

Abstract 889: An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for theXRCC4SNPs

article

An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for the XRCC4 SNPs

scientific article

Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus

scientific article

Association of a novel functional promoter variant (rs2075533 C>T) in the apoptosis gene TNFSF8 with risk of lung cancer--a finding from Texas lung cancer genome-wide association study

scientific article

Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis

scientific article published on 25 August 2009

Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases

scientific journal article

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

scientific article published on 30 July 2018

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.

scientific article published on 14 November 2017

Cancer as a complex phenotype: pattern of cancer distribution within and beyond the nuclear family

scientific article

Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome

scientific article

Characterizing mutagenic effects of recombination through a sequence-level genetic map

scientific article published on 01 January 2019

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

scientific article

Coding variants in and increase risk of atrial fibrillation

scientific article published on 12 June 2018

Common and rare variants associated with kidney stones and biochemical traits

scientific article

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

scientific article published on 3 February 2016

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

scientific article

Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer

scientific journal article

Common variants at 19p13 are associated with susceptibility to ovarian cancer

scientific article

Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

scientific article published on 12 October 2008

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

scientific article published on 6 February 2009

Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer

Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer

scientific article

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

scientific article published on 2 October 2017

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

scientific article

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

scientific article published on 2 November 2010

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

scientific article published on 17 December 2015

Corrigendum: Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.

scientific article published in July 2017

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

scientific article

Detection of sharing by descent, long-range phasing and haplotype imputation

scientific article

Differences between germline genomes of monozygotic twins

scientific article published on 07 January 2021

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

scientific journal article

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

scientific article published on 23 November 2020

Diversity in non-repetitive human sequences not found in the reference genome

scientific article

Effect of sequence variants on variance in glucose levels predicts type 2 diabetes risk and accounts for heritability.

scientific article published on 7 August 2017

Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

scientific article published on 20 January 2020

Epigenetic and genetic components of height regulation

scientific article

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 13 September 2016

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

scholarly article published in Nature Genetics

Erratum: Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer

scholarly article published in Nature Genetics

Erratum: Corrigendum: Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer

article

Erratum: Corrigendum: Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

scholarly article published in Nature Genetics

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

scientific article

Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies

scientific article

FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease

scientific article published on 24 June 2020

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

scientific article published on 8 August 2017

GPC5 rs2352028 variant and risk of lung cancer in never smokers

scientific article published in August 2010

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

scientific article published on 03 May 2019

Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets

scientific article

Genetic correction of PSA values using sequence variants associated with PSA levels

scientific article published on December 2010

Genetic determinants of hair, eye and skin pigmentation in Europeans

scientific article

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

scientific article published on 13 June 2018

Genetic insights into biological mechanisms governing human ovarian ageing

scientific article

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility

scientific article published on 27 March 2017

Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer

scientific article published on 2 August 2009

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

scientific article published on 20 September 2009

Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank

scientific article published on 17 March 2020

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

scientific article published in Nature Communications

Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.

scientific article published in April 2007

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

scientific journal article

Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche

scientific article

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

scientific article published on 26 May 2014

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

scientific article

Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA

scientific article published in Nature Communications

Genome-wide significant association between a sequence variant at 15q15.2 and lung cancer risk

scientific article

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

scientific article published on 23 September 2016

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

scientific article published on 24 April 2017

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

scientific journal article

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

scientific article published on February 2016

Identification of a large set of rare complete human knockouts

scientific article

Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry

scientific article published on 4 January 2016

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

scientific article

Identification of low-frequency variants associated with gout and serum uric acid levels

scientific article published on 9 October 2011

Identification of sequence variants influencing immunoglobulin levels.

scientific article published on 19 June 2017

Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer

scientific article published on 5 January 2016

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

scientific article published in December 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

Large-scale whole-genome sequencing of the Icelandic population

scientific article

Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

scientific article published in 2021

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

scientific article

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

scientific article

Loss-of-function variants in ATM confer risk of gastric cancer

scientific article

MAP1B mutations cause intellectual disability and extensive white matter deficit

scientific article published in Nature Communications

Male-pattern baldness susceptibility locus at 20p11.

scientific article

Many sequence variants affecting diversity of adult human height

scientific article published in May 2008

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

scientific article

Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis

scholarly article by Unnur Styrkarsdottir et al published 29 October 2018 in Nature Genetics

Molecular benchmarks of a SARS-CoV-2 epidemic

scientific article published on 15 June 2021

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

scientific article published on 21 May 2020

Multi-nucleotide de novo Mutations in Humans

scientific article

Multiple transmissions of de novo mutations in families

article

Mutations in BRIP1 confer high risk of ovarian cancer

scientific article

New basal cell carcinoma susceptibility loci

scientific article

New common variants affecting susceptibility to basal cell carcinoma

scientific article

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

scientific article

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

scientific article

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

scientific article published on 20 September 2017

Parental origin of sequence variants associated with complex diseases

scientific article published on December 2009

Physical and neurobehavioral determinants of reproductive onset and success

scientific article

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

scientific article published on 23 April 2020

Predicting the probability of death using proteomics

scientific article published on 18 June 2021

Profile of common prostate cancer risk variants in an unscreened Romanian population

scientific article published on 20 December 2017

Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

scientific article published on 24 May 2019

Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.

scientific article

Rare coding variants and X-linked loci associated with age at menarche

scientific article

Rare mutations associating with serum creatinine and chronic kidney disease

scientific article

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

scientific journal article

Rate of de novo mutations and the importance of father's age to disease risk

scientific article

Relatedness disequilibrium regression estimates heritability without environmental bias

article

Selection against variants in the genome associated with educational attainment

scientific article published on 17 January 2017

Sequence variant at 4q25 near PITX2 associates with appendicitis

scientific article

Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation

scientific article published on 22 February 2017

Sequence variant on 8q24 confers susceptibility to urinary bladder cancer

scientific article

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

scientific article

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

scientific article

Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption

scientific article

Sequence variants from whole genome sequencing a large group of Icelanders

scientific article published on 25 March 2015

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis

scientific article

Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

scientific journal article

Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density

scientific article published on 20 March 2019

Seventy-five genetic loci influencing the human red blood cell

scientific article published on 5 December 2012

Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases

scientific article

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

scientific article published on 02 October 2019

The BARD1 Cys557Ser variant and breast cancer risk in Iceland

scientific article published in July 2006

The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

scientific article published in 2021

The rate of meiotic gene conversion varies by sex and age.

scientific article published on 19 September 2016

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

scientific article

Two newly identified genetic determinants of pigmentation in Europeans

scientific article

Two variants on chromosome 17 confer prostate cancer risk and the one in TCF2 protects against type 2 diabetes

article

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease

scientific article

Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits

scientific article published in Nature Communications

Variants conferring risk of atrial fibrillation on chromosome 4q25.

scientific article

Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma

scientific article

Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease

scientific article

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

scientific article published on 8 February 2016

Whole genome characterization of sequence diversity of 15,220 Icelanders

scientific article published on 21 September 2017

Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis

scientific article published on 20 March 2017

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