User profiles for S. Pulit
Sara L PulitVertex 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 …
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
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 …
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
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-…
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
… (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 …
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
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 (…
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
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 …
associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced …
Sexual dimorphisms in genetic loci linked to body fat distribution
… 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 …
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%, …
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 …
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 …
population within Europe and represents 0.24 percent of the world’s total population. The …