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Eric Powell
Researcher at University of Miami
Publications - 16
Citations - 2004
Eric Powell is an academic researcher from University of Miami. The author has contributed to research in topics: Exome sequencing & Exome. The author has an hindex of 12, co-authored 16 publications receiving 1705 citations. Previous affiliations of Eric Powell include John P. Hussman Institute for Human Genomics.
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Journal ArticleDOI
dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway
Jeannette M. Osterloh,Jing Yang,Timothy M. Rooney,A. Nicole Fox,Robert Adalbert,Eric Powell,Amy E. Sheehan,Michelle A. Avery,Rachel Hackett,Mary A. Logan,Jennifer M. MacDonald,Jennifer S. Ziegenfuss,Stefan Milde,Ying-Ju Hou,Carl Nathan,Aihao Ding,Robert H. Brown,Laura Conforti,Michael P. Coleman,Marc Tessier-Lavigne,Stephan Züchner,Marc R. Freeman +21 more
TL;DR: It is shown that loss of the Drosophila Toll receptor adaptor dSarm cell-autonomously suppresses Wallerian degeneration for weeks after axotomy, providing direct evidence that axons actively promote their own destruction after injury and identify dSARM/Sarm1 as a member of an ancient axon death signaling pathway.
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Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
Todd L. Edwards,Todd L. Edwards,William K. Scott,Cherylyn Almonte,Amber Burt,Eric Powell,Gary W. Beecham,Liyong Wang,Stephan Züchner,Ioanna Konidari,Gaofeng Wang,Carlos Singer,Fatta B. Nahab,Burton L. Scott,Jeffrey M. Stajich,Margaret A. Pericak-Vance,Jonathan L. Haines,Jeffery M. Vance,Eden R. Martin +18 more
TL;DR: Three independent genome‐wide association studies (GWAS) have investigated the genetic susceptibility to PD and implicated several genes as PD risk loci with strong, but not genome-wide significant, associations.
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Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia
Asli Sirmaci,Michail Spiliopoulos,Francesco Brancati,Francesco Brancati,Francesco Brancati,Eric Powell,Duygu Duman,Alexander J. Abrams,Guney Bademci,Emanuele Agolini,Shengru Guo,Berrin Konuk,Aslı Kavaz,Susan H. Blanton,M. C. Digilio,Bruno Dallapiccola,Juan Young,Stephan Züchner,Mustafa Tekin,Mustafa Tekin +19 more
TL;DR: It is demonstrated that ANKRD11 localizes mainly to the nuclei of neurons and accumulates in discrete inclusions when neurons are depolarized, suggesting that it plays a role in neural plasticity.
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Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
Adam C. Naj,Gary W. Beecham,Eden R. Martin,Paul Gallins,Eric Powell,Ioanna Konidari,Patrice L. Whitehead,Guiqing Cai,Vahram Haroutunian,William K. Scott,Jeffery M. Vance,Michael A. Slifer,Harry E. Gwirtsman,John R. Gilbert,Jonathan L. Haines,Joseph D. Buxbaum,Margaret A. Pericak-Vance +16 more
TL;DR: The present study observed and replicated a novel statistically significant association in MTHFD1L, a gene involved in the tetrahydrofolate synthesis pathway that may play a role in the generation of methionine from homocysteine and influence homocy steine-related pathways and as levels of homocy Steine are a significant risk factor for LOAD development.
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Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth family
Gladys Montenegro,Eric Powell,Jia Huang,Fiorella Speziani,Yvonne J. K. Edwards,Gary W. Beecham,William Hulme,Carly E. Siskind,Jeffery M. Vance,Michael E. Shy,Stephan Züchner +10 more
TL;DR: The relative uniform phenotypes in many patients with CMT make it difficult to decide which of the over 35 known CMT genes are affected in a given patient, and genetic testing decision trees are broadly based on a small number of major subtypes and the observed mutation frequency.