Author details

Full Name

Patrick Sulem

Affiliation

ORCID

Career Start Year

2000

Papers

229

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37684520	A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.	Eur J Hum Genet	2024
37962958	Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.	J Clin Invest	2024
36658437	Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism.	Nat Genet	2023
37606673	Evaluation of Large-Scale Proteomics for Prediction of Cardiovascular Events.	JAMA	2023
37937776	Actionable Genotypes and Their Association with Life Span in Iceland.	N Engl J Med	2023
37932435	Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis.	Nat Genet	2023
37794188	Large-scale plasma proteomics comparisons through genetics and disease associations.	Nature	2023
37714134	Complex effects of sequence variants on lipid levels and coronary artery disease.	Cell	2023
37414856	Physical and cognitive impact following SARS-CoV-2 infection in a large population-based case-control study.	Commun Med (Lond)	2023
37400429	Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.	Nat Commun	2023
37449562	Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.	J Am Heart Assoc	2023
37386006	Sequence variants affecting the genome-wide rate of germline microsatellite mutations.	Nat Commun	2023
36747475	Genetic variants associated with syncope implicate neural and autonomic processes.	Eur Heart J	2023
37180503	Factor B Mutation in Monozygotic Twins Discordant for Atypical Hemolytic Uremic Syndrome.		2023
37430141	Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria.	Commun Biol	2023
37301908	Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.	Nat Commun	2023
37294764	Sequence variants affecting voice pitch in humans.	Sci Adv	2023
37503126	Understanding the genetic complexity of puberty timing across the allele frequency spectrum.	medRxiv	2023
35121750	Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.	Nat Commun	2022
35395208	Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.	Am J Hum Genet	2022
36171188	Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in Iceland.	Nat Commun	2022
35650273	Genetic architecture of band neutrophil fraction in Iceland.	Commun Biol	2022
35697829	Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.	Commun Biol	2022
36280732	Multiomics study of nonalcoholic fatty liver disease.	Nat Genet	2022
36125206	Cholesterol not particle concentration mediates the atherogenic risk conferred by apolipoprotein B particles: a Mendelian randomization analysis.	Eur J Prev Cardiol	2022
35859178	The sequences of 150,119 genomes in the UK Biobank.	Nature	2022
35474271	GWAS of Hematuria.	Clin J Am Soc Nephrol	2022
35470158	Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset.	Ann Rheum Dis	2022
36415660	Thirty novel sequence variants impacting human intracranial volume.	Brain Commun	2022
35182757	Reconstruction of a large-scale outbreak of SARS-CoV-2 infection in Iceland informs vaccination strategies.	Clin Microbiol Infect	2022
34936471	Response by BjÃ¶rnsson et al to Letter Regarding Article, "Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland".	Arterioscler Thromb Vasc Biol	2022
34851692	Comment on "Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics".	Sci Transl Med	2021
36282123	Genetic insight into sick sinus syndrome.	Eur Heart J	2021
33972781	Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits.	Nat Genet	2021
33707627	Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.	Eur J Hum Genet	2021
33580673	Genetic insight into sick sinus syndrome.	Eur Heart J	2021
33526789	PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes.	Nat Commun	2021
34108613	The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.	Commun Biol	2021
33727701	Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.	Nat Genet	2021
34145379	Predicting the probability of death using proteomics.	Commun Biol	2021
33982893	The CRTAC1 Protein in Plasma Is Associated With Osteoarthritis and Predicts Progression to Joint Replacement: A Large-Scale Proteomics Scan in Iceland.	Arthritis Rheumatol	2021
33602785	Loss-of-Function Variants in the Tumor-Suppressor Gene <i>PTPN14</i> Confer Increased Cancer Risk.	Cancer Res	2021
34131116	Molecular benchmarks of a SARS-CoV-2 epidemic.	Nat Commun	2021
33315477	Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in <i>LDLR</i>.	Circ Genom Precis Med	2021
33414551	Differences between germline genomes of monozygotic twins.	Nat Genet	2021
34407635	Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.	Arterioscler Thromb Vasc Biol	2021
34462577	Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.	Eur J Hum Genet	2021
34857953	Large-scale integration of the plasma proteome with genetics and disease.	Nat Genet	2021
34620984	A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo.	Commun Biol	2021
33230300	Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.	Nat Genet	2020