Deborah A Nickerson
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Explore the profile of Deborah A Nickerson including associated specialties, affiliations and a list of published articles.
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379
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30386
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Recent Articles
1.
Orchard P, Blackwell T, Kachuri L, Castaldi P, Cho M, Christenson S, et al.
medRxiv
. 2025 Mar;
PMID: 40034763
Most genetic variants associated with complex traits and diseases occur in non-coding genomic regions and are hypothesized to regulate gene expression. To understand the genetics underlying gene expression variability, we...
2.
Borda V, Loesch D, Guo B, Laboulaye R, Veliz-Otani D, French J, et al.
Cell Genom
. 2024 Nov;
4(11):100692.
PMID: 39486408
Latin Americans are underrepresented in genetic studies, increasing disparities in personalized genomic medicine. Despite available genetic data from thousands of Latin Americans, accessing and navigating the bureaucratic hurdles for consent...
3.
de Vries P, Conomos M, Singh K, Nicholson C, Jain D, Hasbani N, et al.
Nat Cardiovasc Res
. 2024 May;
2(12):1159-1172.
PMID: 38817323
Coronary artery calcification (CAC) is a measure of atherosclerosis and a well-established predictor of coronary artery disease (CAD) events. Here we describe a genome-wide association study (GWAS) of CAC in...
4.
Li T, Ferraro N, Strober B, Aguet F, Kasela S, Arvanitis M, et al.
Cell Genom
. 2023 Oct;
3(10):100401.
PMID: 37868038
Each human genome has tens of thousands of rare genetic variants; however, identifying impactful rare variants remains a major challenge. We demonstrate how use of personal multi-omics can enable identification...
5.
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease
Pinard A, Ye W, Fraser S, Rosenfeld J, Pichurin P, Hickey S, et al.
Brain
. 2023 May;
146(9):3616-3623.
PMID: 37253099
Moyamoya disease, a cerebrovascular disease leading to strokes in children and young adults, is characterized by progressive occlusion of the distal internal carotid arteries and the formation of collateral vessels....
6.
Jun G, English A, Metcalf G, Yang J, Chaisson M, Pankratz N, et al.
Res Sq
. 2023 Feb;
PMID: 36778386
Ever larger Structural Variant (SV) catalogs highlighting the diversity within and between populations help researchers better understand the links between SVs and disease. The identification of SVs from DNA sequence...
7.
Jun G, English A, Metcalf G, Yang J, Chaisson M, Pankratz N, et al.
bioRxiv
. 2023 Feb;
PMID: 36747810
Ever larger Structural Variant (SV) catalogs highlighting the diversity within and between populations help researchers better understand the links between SVs and disease. The identification of SVs from DNA sequence...
8.
Liu Q, Zhou Y, Cogan J, Mitchell D, Sheng Q, Zhao S, et al.
Am J Respir Crit Care Med
. 2023 Jan;
207(10):1345-1357.
PMID: 36622818
Up to 20% of idiopathic interstitial lung disease is familial, referred to as familial pulmonary fibrosis (FPF). An integrated analysis of FPF genetic risk was performed by comprehensively evaluating for...
9.
Wheeler M, Stilp A, Rao S, Halldorsson B, Beyter D, Wen J, et al.
Nat Commun
. 2022 Dec;
13(1):7592.
PMID: 36481753
Genome-wide association studies have identified thousands of single nucleotide variants and small indels that contribute to variation in hematologic traits. While structural variants are known to cause rare blood or...
10.
Sajuthi S, Everman J, Jackson N, Saef B, Rios C, Moore C, et al.
Nat Commun
. 2022 Oct;
13(1):5806.
PMID: 36192399
No abstract available.