User profiles for Sara Pulit

Sara L Pulit

Vertex Pharmaceuticals
Verified email at vrtx.com
Cited by 14428

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-…

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

…, T Ninomiya, MJ O'Donnell, BM Psaty, SL Pulit… - 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 …

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
More than one in three adults worldwide is either overweight or obese. Epidemiological studies
indicate that the location and distribution of excess fat, rather than general adiposity, are …

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

…, AM Dekker, RL McLaughlin, FP Diekstra, SL Pulit… - 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 …

[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%, …

[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
Within the Netherlands a national network of biobanks has been established (Biobanking and
Biomolecular Research Infrastructure-Netherlands (BBMRI-NL)) as a national node of the …

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

DE Arking, SL Pulit, L Crotti, P Van Der Harst… - 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] GWAS identifies 14 loci for device-measured physical activity and sleep duration

…, T Ferreira, MV Holmes, C Holmes, SL Pulit… - Nature …, 2018 - nature.com
Physical activity and sleep duration are established risk factors for many diseases, but their
aetiology is poorly understood, partly due to relying on self-reported evidence. Here we …

[HTML][HTML] Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1

A Cortes, SL Pulit, PJ Leo, JJ Pointon… - Nature …, 2015 - nature.com
Ankylosing spondylitis (AS) is a common, highly heritable, inflammatory arthritis for which
HLA-B*27 is the major genetic risk factor, although its role in the aetiology of AS remains …