Sara L. Pulit

Benchmarking autosomal recessive disease prevalence estimation from allele frequencies against newborn screening data

The paper benchmarks genetic prevalence estimates of autosomal recessive diseases against newborn screening data, finding concordance influenced by population databases and ancestry matching.

Genetic association analysis of age of ischemic stroke onset: a caveat

The paper performs a GWAS in a case-only design to identify genetic loci influencing age at onset of ischemic stroke and finds a robust association with the APOE locus, suggesting potential survival bias rather than direct causation.

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

This study identifies novel genetic loci for BMI, height, and WHRadjBMI in Hispanic/Latino populations and shows the benefits of ancestral diversity in GWAS.

Integrative genomic strategies applied to a lymphoblast cell line model reveal specific transcriptomic signatures associated with clozapine response

The paper investigates clozapine's molecular effects using lymphoblastoid cell lines, identifying transcriptomic and epigenomic changes linked to cholesterol and metabolic pathways.

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

The paper develops a deep learning method for adipocyte phenotyping and finds adipocyte area correlates with BMI but no genome-wide significant genetic associations.

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

The paper compares two phenotyping approaches for ischemic stroke subtypes and identifies a genetic risk locus for small vessel stroke using the intersect phenotype.

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

The paper introduces a data browser for Project MinE, providing open-access whole-genome sequencing data from ALS patients and controls to support research without requiring advanced bioinformatics skills.

Tolerance of nonsynonymous variation is closely correlated between human and mouse orthologues

The paper estimates intraspecific constraint for mouse genes and shows strong correlation with human orthologues, linking constraint to pleiotropy and Mendelian disease.

Lifelong genetically lowered sclerostin and risk of cardiovascular disease.

This study finds that genetically or therapeutically lowering sclerostin increases cardiovascular risk, based on genetic variant analysis and clinical trial data.

GWAS identifies novel risk locus for erectile dysfunction and implicates hypothalamic neurobiology and diabetes in etiology

A GWAS of erectile dysfunction identifies a new locus at 6q16.3, implicating hypothalamic neurobiology and diabetes in its etiology.

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

This paper conducts a GWAS on objectively-measured physical activity and sleep traits, identifying 10 loci with potential causal roles in cardiometabolic disease.

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

The paper assesses if genetic risk for atrial fibrillation explains cardioembolic stroke risk using genome-wide data from the Stroke Genetics Network.

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

Meta-analysis of waist-to-hip ratio adjusted for BMI in 694,649 European-ancestry individuals identifies 463 signals in 346 loci, roughly one-third sexually dimorphic and mostly stronger in women.

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

This study identifies functionally distinct ERAP1 and ERAP2 haplotypes associated with Birdshot Uveitis and shows their combined effect enhances disease risk.

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

This study evaluates the genetic architecture of sudden cardiac arrest through GWAS and Mendelian randomization, finding genetic correlations with CAD, height, BMI, and electrical instability traits.

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

Project MinE analyzes whole-genome sequencing data from ALS patients and controls to study genetic variation and its implications for disease susceptibility.

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

The paper analyzes 239 Dutch mate-pairs with whole-genome sequences to test if MHC genetic variation influences mate selection, finding no evidence of MHC-dependent mate choice.

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

This study uses pathway analysis on schizophrenia GWAS data to identify enrichment in synaptic plasticity and neurotransmitter synapse gene sets, supporting a role for postsynaptic signaling in schizophrenia.

An Amino Acid Motif In HLA-DRB1 Distinguishes Patients With Uveitis In Juvenile Idiopathic Arthritis

The paper identifies serine-11 in HLA-DRB1 as a risk factor for uveitis in JIA, showing sex-specific association and peptide-binding preferences.