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Allison E. Ashley-Koch

Researcher at Duke University

Publications -  259
Citations -  14622

Allison E. Ashley-Koch is an academic researcher from Duke University. The author has contributed to research in topics: Genome-wide association study & Single-nucleotide polymorphism. The author has an hindex of 50, co-authored 224 publications receiving 11439 citations. Previous affiliations of Allison E. Ashley-Koch include Emory University & University of North Carolina at Chapel Hill.

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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.

Daniel Taliun, +205 more
- 10 Feb 2021 - 
TL;DR: The Trans-Omics for Precision Medicine (TOPMed) project as discussed by the authors aims to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases.
Posted ContentDOI

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Daniel Taliun, +194 more
- 06 Mar 2019 - 
TL;DR: The nearly complete catalog of genetic variation in TOPMed studies provides unique opportunities for exploring the contributions of rare and non-coding sequence variants to phenotypic variation as well as resources and early insights from the sequence data.
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A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)

Evan Reid, +11 more
- 01 Nov 2002 - 
TL;DR: This finding suggests that the underlying pathology of SPG10 and possibly of other forms of hereditary spastic paraplegia may involve perturbation of neuronal anterograde (or retrograde) axoplasmic flow, leading to axonal degeneration, especially in the longest axons of the central nervous system.
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Sickle Hemoglobin (Hb S) Allele and Sickle Cell Disease: A HuGE Review

Allison E. Ashley-Koch, +2 more
- 01 May 2000 - 
TL;DR: In recent years, newborn screening, better medical care, parent education, and penicillin prophylaxis have successfully reduced morbidity and mortality due to Hb S.
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The genetic architecture of the human cerebral cortex

Katrina L. Grasby, +359 more
- 20 Mar 2020 - 
TL;DR: Results support the radial unit hypothesis that different developmental mechanisms promote surface area expansion and increases in thickness and find evidence that brain structure is a key phenotype along the causal pathway that leads from genetic variation to differences in general cognitive function.