List of works - Sara Pulit

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

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

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

scientific article published on 25 July 2016

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

scientific article published on 12 March 2018

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

scientific article

The Genome of the Netherlands: design, and project goals

scientific article (publication date: February 2014)

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

scientific article published on 21 May 2015

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

scientific article

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

scientific article published on September 2013

Multi-ethnic genome-wide association study for atrial fibrillation

article

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

scientific article

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

scientific article published on 20 April 2015

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

scientific article (publication date: 15 November 2014)

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

scientific article

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

scientific article

Multiethnic genetic association studies improve power for locus discovery

scientific article

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

scientific article

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

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

scientific article published in February 2016

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

scientific article published on 18 December 2016

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

scientific article published on 11 December 2015

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

scientific article published in Nature Communications

Negative selection in humans and fruit flies involves synergistic epistasis.

scientific article

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

scientific article

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

scientific article

Sexual dimorphisms in genetic loci linked to body fat distribution

scientific article published on 10 January 2017

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

scientific article

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

scientific article published on 18 August 2017

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

scientific article published on 27 September 2017

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

scientific article

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

scientific article published on 9 September 2017

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

scientific article

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

scientific article published on September 2016

Stroke genetics: discovery, biology, and clinical applications

article

Association claims in the sequencing era

scientific article

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

scientific article published on 01 May 2018

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

scientific article published on 22 September 2018

Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes

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

scientific article published on 10 January 2014

Genetic and epigenetic studies of adiposity and cardiometabolic disease

scientific article published on 18 September 2017

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

scientific article published on 11 April 2018

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

scientific article published on 7 March 2018

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

scientific article

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

scientific article

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

scientific article published on 01 December 2018

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

scientific article published on 17 July 2017

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

scientific article published on 01 August 2019

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

Reconsidering the causality of TIA1 mutations in ALS.

scientific article published on 13 December 2017

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

scientific article published on 24 October 2019

List of works by Sara Pulit

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

Analysis of shared heritability in common disorders of the brain

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

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

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

The Genome of the Netherlands: design, and project goals

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

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

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

Multi-ethnic genome-wide association study for atrial fibrillation

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

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

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

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

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

Multiethnic genetic association studies improve power for locus discovery

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

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

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

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

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

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

Negative selection in humans and fruit flies involves synergistic epistasis.

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

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

Sexual dimorphisms in genetic loci linked to body fat distribution

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

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

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

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

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

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

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

Stroke genetics: discovery, biology, and clinical applications

Association claims in the sequencing era

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

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

Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes

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

Genetic and epigenetic studies of adiposity and cardiometabolic disease

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

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

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

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

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

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

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

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

Reconsidering the causality of TIA1 mutations in ALS.

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