User profiles for S. Pulit

Sara L Pulit

Vertex Pharmaceuticals
Verified email at vrtx.com
Cited by 14428

Stroke genetics: discovery, biology, and clinical applications

M Dichgans, SL Pulit, J Rosand - The Lancet Neurology, 2019 - thelancet.com
Stroke, a leading cause of long-term disability and death worldwide, has a heritable
component. Recent gene discovery efforts have expanded the number of known single-gene …

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

…, G Thorleifsson, U Thorsteinsdottir, S Tiedt, S Trompet… - Nature …, 2018 - nature.com
Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown.
We conducted a multiancestry genome-wide-association meta-analysis in 521,612 …

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

AD Johnson, RE Handsaker, SL Pulit, MM Nizzari… - …, 2008 - academic.oup.com
The interpretation of genome-wide association results is confounded by linkage disequilibrium
between nearby alleles. We have developed a flexible bioinformatics query tool for single-…

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

SL Pulit, C Stoneman, AP Morris… - Human molecular …, 2019 - academic.oup.com
… (men and women, grey points) will be biased away from sex dimorphism and index SNPs
identified in the sex-specific sample will be biased towards sex dimorphism (due to winner’s

Multi-ethnic genome-wide association study for atrial fibrillation

…, J Pera, A Pereira, D Porteous, BM Psaty, SL Pulit… - Nature …, 2018 - nature.com
Atrial fibrillation (AF) affects more than 33 million individuals worldwide 1 and has a complex
heritability 2 . We conducted the largest meta-analysis of genome-wide association studies (…

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

…, P Fratta, A Malaspina, S Topp, S Petri, S Abdulla… - Nature …, 2016 - nature.com
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced …

Sexual dimorphisms in genetic loci linked to body fat distribution

SL Pulit, T Karaderi, CM Lindgren - Bioscience reports, 2017 - portlandpress.com
… Other sexually dimorphic characteristics in animals are visually striking: the elaborate tail of
the male peacock, the male lion’s mane and the increased body size of some female spiders …

[HTML][HTML] HLA-B*13:01 and the Dapsone Hypersensitivity Syndrome

…, XC Chen, ZX Zhang, YX Liu, SL Pulit… - … England Journal of …, 2013 - Mass Medical Soc
Background Dapsone is used in the treatment of infections and inflammatory diseases. The
dapsone hypersensitivity syndrome, which is associated with a reported mortality of 9.9%, …

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

…, S Ulivi, T Tanaka, DJ Tester, S Chatel, S Gustafsson… - Nature …, 2014 - nature.com
The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a
heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac …

[HTML][HTML] The Genome of the Netherlands: design, and project goals

…, S Cao, J Van Setten, A Menelaou, SL Pulit… - European journal of …, 2014 - nature.com
… Yet, the Dutch population of nearly 17 million inhabitants constitutes a middle-sized
population within Europe and represents 0.24 percent of the world’s total population. The …