Lista de obras - Sara Pulit - Dominio Público Uruguay

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy

artículo científico publicado en 2014

A lead candidate functional single nucleotide polymorphism within the WARS2 gene associated with waist-hip-ratio does not alter RNA stability

scientific article published on 30 September 2020

A replication study of genetic risk loci for ischemic stroke in a Dutch population: a case-control study

artículo científico publicado en 2017

Alternate approach to stroke phenotyping identifies a genetic risk locus for small vessel stroke

artículo científico publicado en 2020

An amino acid motif in HLA-DRβ1 distinguishes patients with uveitis in juvenile idiopathic arthritis.

artículo científico publicado en 2018

An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval

artículo científico publicado en 2014

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium

artículo científico publicado en 2022

Association claims in the sequencing era

artículo científico publicado en 2014

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

artículo científico publicado en 2018

Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis

artículo científico publicado en 2013

Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes

Author Correction: A replication study of genetic risk loci for ischemic stroke in a Dutch population: a case-control study.

artículo científico publicado en 2018

COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls

artículo científico publicado en 2017

Causal relationships between obesity and the leading causes of death in women and men

artículo científico publicado en 2019

Common Coding Variants in Are Associated With the Nav1.8 Late Current and Cardiac Conduction

artículo científico publicado en 2018

Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest

artículo científico publicado en 2014

Comprehensive pathway analyses of schizophrenia risk loci point to dysfunctional postsynaptic signaling

artículo científico publicado en 2018

Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency

artículo científico publicado en 2013

Estimating the net contribution of interleukin-28B variation to spontaneous hepatitis C virus clearance

artículo científico publicado en 2011

Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics

scientific article published on 01 June 2020

Evaluating the impact of functional genetic variation on HIV-1 control

artículo científico publicado en 2017

Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease

artículo científico publicado en 2015

Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis

artículo científico publicado en 2018

GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology

artículo científico publicado en 2018

GWAS identifies 10 loci for objectively-measured physical activity and sleep with causal roles in cardiometabolic disease

GWAS identifies 14 loci for device-measured physical activity and sleep duration

artículo científico publicado en 2018

Genetic and epigenetic studies of adiposity and cardiometabolic disease ⬇️

artículo científico publicado en 2017

Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

artículo científico publicado en 2014

Genetic variation at 16q24.2 is associated with small vessel stroke

artículo científico publicado en 2016

Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

artículo científico publicado en 2015

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

artículo científico publicado en 2016

Genome-wide association study of lymphoblast cell viability after clozapine exposure.

artículo científico publicado en 2015

HLA-B*13:01 and the dapsone hypersensitivity syndrome.

artículo científico publicado en 2013

Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration.

artículo científico publicado en 2016

Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits

artículo científico publicado en 2020

Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1.

artículo científico publicado en 2015

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry

article by Sara Pulit et al published 1 January 2019 in Human Molecular Genetics

MicroRNA-196a links human body fat distribution to adipose tissue extracellular matrix composition

scientific article published on 28 May 2019

More than 25 years of genetic studies of clozapine-induced agranulocytosis.

artículo científico publicado en 2017

Multi-ethnic genome-wide association study for atrial fibrillation

article

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

artículo científico publicado en 2018

Multiethnic genetic association studies improve power for locus discovery

artículo científico publicado en 2010

Multivariate genome-wide analysis of stress-related quantitative phenotypes

scientific article published on 09 October 2019

Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations

artículo científico publicado en 2022

Negative selection in humans and fruit flies involves synergistic epistasis.

artículo científico publicado en 2017

No association between gluten sensitivity and amyotrophic lateral sclerosis

artículo científico publicado en 2017

No evidence that mate choice in humans is dependent on the MHC

article

Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease

artículo científico publicado en 2013

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.

artículo científico publicado en 2016

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

artículo científico publicado en 2019

Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk

artículo científico publicado en 2015

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

artículo científico publicado en 2016

Reconsidering the causality of TIA1 mutations in ALS.

artículo científico publicado en 2017

Resetting the bar: Statistical significance in whole-genome sequencing-based association studies of global populations.

artículo científico publicado en 2016

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

artículo científico publicado en 2017

Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

artículo científico publicado en 2014

Sexual dimorphisms in genetic loci linked to body fat distribution

artículo científico publicado en 2017

Stroke genetics: discovery, biology, and clinical applications

article

The Genome of the Netherlands: design, and project goals

artículo científico publicado en 2014

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The genetic underpinnings of body fat distribution

scientific article published on 17 October 2017

The major genetic determinants of HIV-1 control affect HLA class I peptide presentation

artículo científico publicado en 2010

The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

artículo científico publicado en 2019

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

artículo científico

Using previously genotyped controls in genome-wide association studies (GWAS): application to the Stroke Genetics Network (SiGN)

artículo científico publicado en 2014

Lista de obras de Sara Pulit

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy

A lead candidate functional single nucleotide polymorphism within the WARS2 gene associated with waist-hip-ratio does not alter RNA stability

A replication study of genetic risk loci for ischemic stroke in a Dutch population: a case-control study

Alternate approach to stroke phenotyping identifies a genetic risk locus for small vessel stroke

An amino acid motif in HLA-DRβ1 distinguishes patients with uveitis in juvenile idiopathic arthritis.

An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval

Analysis of shared heritability in common disorders of the brain

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium

Association claims in the sequencing era

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis

Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes

Author Correction: A replication study of genetic risk loci for ischemic stroke in a Dutch population: a case-control study.

COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls

Causal relationships between obesity and the leading causes of death in women and men

Common Coding Variants in Are Associated With the Nav1.8 Late Current and Cardiac Conduction

Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest

Comprehensive pathway analyses of schizophrenia risk loci point to dysfunctional postsynaptic signaling

Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency

Estimating the net contribution of interleukin-28B variation to spontaneous hepatitis C virus clearance

Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics

Evaluating the impact of functional genetic variation on HIV-1 control

Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease

Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis

GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology

GWAS identifies 10 loci for objectively-measured physical activity and sleep with causal roles in cardiometabolic disease

GWAS identifies 14 loci for device-measured physical activity and sleep duration

Genetic and epigenetic studies of adiposity and cardiometabolic disease ⬇️

Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Genetic variation at 16q24.2 is associated with small vessel stroke

Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Genome-wide association study of lymphoblast cell viability after clozapine exposure.

HLA-B*13:01 and the dapsone hypersensitivity syndrome.

Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration.

Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits

Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1.

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry

MicroRNA-196a links human body fat distribution to adipose tissue extracellular matrix composition

More than 25 years of genetic studies of clozapine-induced agranulocytosis.

Multi-ethnic genome-wide association study for atrial fibrillation

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

Multiethnic genetic association studies improve power for locus discovery

Multivariate genome-wide analysis of stress-related quantitative phenotypes

Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations

Negative selection in humans and fruit flies involves synergistic epistasis.

No association between gluten sensitivity and amyotrophic lateral sclerosis

No evidence that mate choice in humans is dependent on the MHC

Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk

Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis

Reconsidering the causality of TIA1 mutations in ALS.

Resetting the bar: Statistical significance in whole-genome sequencing-based association studies of global populations.

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

Sexual dimorphisms in genetic loci linked to body fat distribution

Stroke genetics: discovery, biology, and clinical applications

The Genome of the Netherlands: design, and project goals

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The genetic underpinnings of body fat distribution

The major genetic determinants of HIV-1 control affect HLA class I peptide presentation

The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

Using previously genotyped controls in genome-wide association studies (GWAS): application to the Stroke Genetics Network (SiGN)