Sara E Dobbins
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Explore the profile of Sara E Dobbins including associated specialties, affiliations and a list of published articles.
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39
Citations
2494
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Recent Articles
1.
Grigoriadis D, Sackey E, Riches K, van Zanten M, Brice G, England R, et al.
PLoS One
. 2022 Oct;
17(10):e0274867.
PMID: 36227936
Lipoedema is a chronic adipose tissue disorder mainly affecting women, causing excess subcutaneous fat deposition on the lower limbs with pain and tenderness. There is often a family history of...
2.
Schmidt A, Holmes M, Preiss D, Swerdlow D, Denaxas S, Fatemifar G, et al.
BMC Cardiovasc Disord
. 2019 Oct;
19(1):240.
PMID: 31664920
Background: We characterised the phenotypic consequence of genetic variation at the PCSK9 locus and compared findings with recent trials of pharmacological inhibitors of PCSK9. Methods: Published and individual participant level...
3.
Hoang P, Cornish A, Dobbins S, Kaiser M, Houlston R
Blood Cancer J
. 2019 Aug;
9(8):60.
PMID: 31387987
To gain insight into multiple myeloma (MM) tumorigenesis, we analyzed the mutational signatures in 874 whole-exome and 850 whole-genome data from the CoMMpass Study. We identified that coding and non-coding...
4.
Cornish A, Hoang P, Dobbins S, Law P, Chubb D, Orlando G, et al.
Blood Adv
. 2019 Jan;
3(1):21-32.
PMID: 30606723
The identification of driver mutations is fundamental to understanding oncogenesis. Although genes frequently mutated in B-cell lymphoma have been identified, the search for driver mutations has largely focused on the...
5.
Orlando G, Law P, Cornish A, Dobbins S, Chubb D, Broderick P, et al.
Nat Genet
. 2018 Sep;
50(10):1375-1380.
PMID: 30224643
Efforts are being directed to systematically analyze the non-coding regions of the genome for cancer-driving mutations. cis-regulatory elements (CREs) represent a highly enriched subset of the non-coding regions of the...
6.
Claus E, Cornish A, Broderick P, Schildkraut J, Dobbins S, Holroyd A, et al.
Neuro Oncol
. 2018 May;
20(11):1485-1493.
PMID: 29762745
Background: Meningiomas are adult brain tumors originating in the meningeal coverings of the brain and spinal cord, with significant heritable basis. Genome-wide association studies (GWAS) have previously identified only a...
7.
Hoang P, Dobbins S, Cornish A, Chubb D, Law P, Kaiser M, et al.
Leukemia
. 2018 Apr;
32(11):2459-2470.
PMID: 29654271
Multiple myeloma (MM) is a biologically heterogeneous malignancy, however, the mechanisms underlying this complexity are incompletely understood. We report an analysis of the whole-genome sequencing of 765 MM patients from...
8.
Li N, Johnson D, Weinhold N, Kimber S, Dobbins S, Mitchell J, et al.
Cell Rep
. 2017 Sep;
20(11):2556-2564.
PMID: 28903037
Multiple myeloma (MM) is a malignancy of plasma cells. Genome-wide association studies have shown that variation at 5q15 influences MM risk. Here, we have sought to decipher the causal variant...
9.
Scales M, Chubb D, Dobbins S, Johnson D, Li N, Sternberg M, et al.
Oncotarget
. 2017 Apr;
8(22):36203-36210.
PMID: 28404951
The genetic basis underlying the inherited risk of developing multiple myeloma (MM) is largely unknown. To examine the impact of rare protein altering variants on the risk of developing MM...
10.
Chubb D, Broderick P, Dobbins S, Houlston R
F1000Res
. 2017 Jan;
5:2813.
PMID: 28105316
The advent of high-throughput sequencing has accelerated our ability to discover genes predisposing to disease and is transforming clinical genomic sequencing. In both contexts knowledge of the spectrum and frequency...