User profiles for Rebecca S. Fine

Rebecca S. Fine, Ph.D.

Vertex Pharmaceuticals
Verified email at g.harvard.edu
Cited by 1582

Rare and low-frequency coding variants alter human adult height

…, RS Fine, Y Lu, C Schurmann, HM Highland, S Rüeger… - Nature, 2017 - nature.com
Height is a highly heritable, classic polygenic trait with approximately 700 common associated
variants identified through genome-wide association studies so far. Here, we report 83 …

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

…, AE Farmaki, IS Farooqi, JD Faul, S Fauser, S Feng… - Nature …, 2018 - nature.com
Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI),
implicating pathways related to neuronal biology. Most GWAS loci represent clusters of …

Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases

EM Weeks, JC Ulirsch, NY Cheng, BL Trippe, RS Fine… - Nature …, 2023 - nature.com
Genome-wide association studies (GWASs) are a valuable tool for understanding the
biology of complex human traits and diseases, but associated variants rarely point directly to …

The role of IL-6 in neurodevelopment after prenatal stress

SB Gumusoglu, RS Fine, SJ Murray, JL Bittle… - Brain, behavior, and …, 2017 - Elsevier
Prenatal stress exposure is associated with adverse psychiatric outcomes, including autism
and ADHD, as well as locomotor and social inhibition and anxiety-like behaviors in animal …

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

…, KL Young, M Graff, Y Lu, V Turcot, PL Auer, RS Fine… - Nature …, 2019 - nature.com
Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We
analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for …

Genetic studies of leptin concentrations implicate leptin in the regulation of early adiposity

…, S Metz, SM Willems, R Li-Gao, N Grarup, S Wang… - Diabetes, 2020 - Am Diabetes Assoc
Leptin influences food intake by informing the brain about the status of body fat stores. Rare
LEP mutations associated with congenital leptin deficiency cause severe early-onset obesity …

[PDF][PDF] Exome-derived adiponectin-associated variants implicate obesity and lipid biology

…, H Yaghootkar, C Schurmann, RS Fine… - The American Journal of …, 2019 - cell.com
Circulating levels of adiponectin, an adipocyte-secreted protein associated with cardiovascular
and metabolic risk, are highly heritable. To gain insights into the biology that regulates …

[PDF][PDF] Benchmarker: an unbiased, association-data-driven strategy to evaluate gene prioritization algorithms

RS Fine, TH Pers, T Amariuta, S Raychaudhuri… - The American Journal of …, 2019 - cell.com
Genome-wide association studies (GWASs) are valuable for understanding human biology,
but associated loci typically contain multiple associated variants and genes. Thus, …

[PDF][PDF] Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry

…, KL Young, E Marouli, X Zhang, RS Fine… - The American Journal of …, 2021 - cell.com
Although many loci have been associated with height in European ancestry populations, very
few have been identified in African ancestry individuals. Furthermore, many of the known …

[HTML][HTML] Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

…, AE Farmaki, IS Farooqi, JD Faul, S Fauser, S Feng… - Nature …, 2018 - nature.com
In the version of this article originally published, one of the two authors with the name Wei
Zhao was omitted from the author list and the affiliations for both authors were assigned to the …