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Person

Patrick Sulem

Arzt

Name	Patrick Sulem
Zeit	2002- (Wirkungsdaten)
Ort	Island
Geschlecht	männlich
Akademischer Grad bzw. Titel	Dr.
Beruf	Arzt (charakteristischer Beruf)
Beziehung	Epidemiologie (Thema) Genetik (Thema)
Quelle	https://www.decode.com/management/ (Stand: 25.11.2024)
Datensatztyp	Person
GND-Nummer	1261038908
Datensatz-ID	1261038908
Beteiligt an alle anzeigen Sequence variants influencing the regulation of serum IgG subclass levels Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease Deciphering the genetics and mechanisms of predisposition to multiple myeloma The correlation between CpG methylation and gene expression is driven by sequence variants Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease Understanding the genetic complexity of puberty timing across the allele frequency spectrum Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura Large-scale plasma proteomics comparisons through genetics and disease associations Physical and cognitive impact following SARS-CoV-2 infection in a large population-based case-control study Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism Multiomics study of nonalcoholic fatty liver disease Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in Iceland HLA alleles, disease severity, and age associate with T-cell responses following infection with SARS-CoV-2 The sequences of 150,119 genomes in the UK Biobank Differences between germline genomes of monozygotic twins Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis Genome-wide association meta-analysis yields 20 loci associated with gallstone disease Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA Multiple transmissions of de novo mutations in families Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease Author Correction: The rate of meiotic gene conversion varies by sex and age Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits MAP1B mutations cause intellectual disability and extensive white matter deficit Relatedness disequilibrium regression estimates heritability without environmental bias Biobank-driven genomic discovery yields new insight into atrial fibrillation biology Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin A rare missense variant in NR1H4 associates with lower cholesterol levels COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters Sequence variant at 4q25 near PITX2 associates with appendicitis A sequence variant associating with educational attainment also affects childhood cognition Rare coding variants and X-linked loci associated with age at menarche Cancer incidence among marine engineers, a population-based study (Iceland)

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Katalog der Deutschen Nationalbibliothek

Patrick Sulem

Sequence variants influencing the regulation of serum IgG subclass levels

Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency

Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease

Deciphering the genetics and mechanisms of predisposition to multiple myeloma

The correlation between CpG methylation and gene expression is driven by sequence variants

Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum

Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations

GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis

Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis

Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination

X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements

Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis

Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

Large-scale plasma proteomics comparisons through genetics and disease associations

Physical and cognitive impact following SARS-CoV-2 infection in a large population-based case-control study

Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism

Multiomics study of nonalcoholic fatty liver disease

Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in Iceland

HLA alleles, disease severity, and age associate with T-cell responses following infection with SARS-CoV-2

The sequences of 150,119 genomes in the UK Biobank

Differences between germline genomes of monozygotic twins

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

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

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

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

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

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

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

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

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

Multiple transmissions of de novo mutations in families

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

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

Author Correction: The rate of meiotic gene conversion varies by sex and age

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

MAP1B mutations cause intellectual disability and extensive white matter deficit

Relatedness disequilibrium regression estimates heritability without environmental bias

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

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

Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation

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

A rare missense variant in NR1H4 associates with lower cholesterol levels

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

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

Sequence variant at 4q25 near PITX2 associates with appendicitis

A sequence variant associating with educational attainment also affects childhood cognition

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

Cancer incidence among marine engineers, a population-based study (Iceland)