Margaret Pericak-Vance
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Explore the profile of Margaret Pericak-Vance including associated specialties, affiliations and a list of published articles.
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2955
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Recent Articles
1.
Le Borgne J, Gomez L, Heikkinen S, Amin N, Ahmad S, Choi S, et al.
Mol Psychiatry
. 2024 Dec;
PMID: 39633006
Due to methodological reasons, the X-chromosome has not been featured in the major genome-wide association studies on Alzheimer's Disease (AD). To address this and better characterize the genetic landscape of...
2.
Lee W, Choi S, Shea M, Cheng P, Dombroski B, Pitsillides A, et al.
Alzheimers Dement
. 2024 Oct;
20(12):8470-8483.
PMID: 39428839
Introduction: Alzheimer's disease (AD) is a common disorder of the elderly that is both highly heritable and genetically heterogeneous. Methods: We investigated the association of AD with both common variants...
3.
Gunasekaran T, Reyes-Dumeyer D, Faber K, Goate A, Boeve B, Cruchaga C, et al.
Alzheimers Dement
. 2024 Sep;
20(11):7580-7594.
PMID: 39233587
Background: Few rare variants have been identified in genetic loci from genome-wide association studies (GWAS) of Alzheimer's disease (AD), limiting understanding of mechanisms, risk assessment, and genetic counseling. Methods: Using...
4.
Cruchaga C, Bradley J, Western D, Wang C, Lucio Da Fonseca E, Neupane A, et al.
Res Sq
. 2024 Jun;
PMID: 38883718
Alzheimer Disease (AD) is a highly polygenic disease that presents with relatively earlier onset (≤70yo; EOAD) in about 5% of cases. Around 90% of these EOAD cases remain unexplained by...
5.
Sosa A, Brucki S, Crivelli L, Lopera F, Acosta D, Acosta-Uribe J, et al.
Alzheimers Dement
. 2024 May;
20(7):5009-5026.
PMID: 38801124
Introduction: While Latin America (LatAm) is facing an increasing burden of dementia due to the rapid aging of the population, it remains underrepresented in dementia research, diagnostics, and care. Methods:...
6.
DeFelice M, Grimsby J, Howrigan D, Yuan K, Chapman S, Stevens C, et al.
bioRxiv
. 2024 Apr;
PMID: 38645052
Genomic scientists have long been promised cheaper DNA sequencing, but deep whole genomes are still costly, especially when considered for large cohorts in population-level studies. More affordable options include microarrays...
7.
Leung Y, Naj A, Chou Y, Valladares O, Schmidt M, Hamilton-Nelson K, et al.
Nat Commun
. 2024 Jan;
15(1):684.
PMID: 38263370
The heterogeneity of the whole-exome sequencing (WES) data generation methods present a challenge to a joint analysis. Here we present a bioinformatics strategy for joint-calling 20,504 WES samples collected across...
8.
Gunasekaran T, Reyes-Dumeyer D, Faber K, Goate A, Boeve B, Cruchaga C, et al.
medRxiv
. 2024 Jan;
PMID: 38196599
Background: Few rare variants have been identified in genetic loci from genome wide association studies of Alzheimer's disease (AD), limiting understanding of mechanisms and risk assessment, and genetic counseling. Methods:...
9.
Sadda S, Verma A, Corradetti G, Nittala M, He Y, Nassisi M, et al.
Res Sq
. 2023 Oct;
PMID: 37790320
Purpose: Intraretinal hyper-reflective foci (IHRF) are optical coherence tomography (OCT) risk factors for progression of age-related macular degeneration (AMD). In this study we assess the change in the number and...
10.
Lee W, Choi S, Shea M, Cheng P, Dombroski B, Pitsillides A, et al.
medRxiv
. 2023 Sep;
PMID: 37693521
Alzheimer's Disease (AD) is a common disorder of the elderly that is both highly heritable and genetically heterogeneous. Here, we investigated the association between AD and both common variants and...