Tamara S Roman
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Explore the profile of Tamara S Roman including associated specialties, affiliations and a list of published articles.
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11
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1173
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Recent Articles
1.
Brotman S, Raulerson C, Vadlamudi S, Currin K, Shen Q, Parsons V, et al.
Am J Hum Genet
. 2022 Jan;
109(1):66-80.
PMID: 34995504
Alternate splicing events can create isoforms that alter gene function, and genetic variants associated with alternate gene isoforms may reveal molecular mechanisms of disease. We used subcutaneous adipose tissue of...
2.
Staley B, Milko L, Waltz M, Griesemer I, Mollison L, Grant T, et al.
Trials
. 2021 Jun;
22(1):395.
PMID: 34127041
Background: Exome sequencing (ES) has probable utility for shortening the diagnostic odyssey of children with suspected genetic disorders. This report describes the design and methods of a study evaluating the...
3.
Amendola L, Muenzen K, Biesecker L, Bowling K, Cooper G, Dorschner M, et al.
Am J Hum Genet
. 2020 Oct;
107(5):932-941.
PMID: 33108757
Harmonization of variant pathogenicity classification across laboratories is important for advancing clinical genomics. The two CLIA-accredited Electronic Medical Record and Genomics Network sequencing centers and the six CLIA-accredited laboratories and...
4.
Roman T, Crowley S, Roche M, Foreman A, ODaniel J, Seifert B, et al.
Am J Hum Genet
. 2020 Aug;
107(4):596-611.
PMID: 32853555
Newborn screening (NBS) was established as a public health program in the 1960s and is crucial for facilitating detection of certain medical conditions in which early intervention can prevent serious,...
5.
Davis J, Vadlamudi S, Roman T, Zeynalzadeh M, Iyengar A, Mohlke K
Hum Mol Genet
. 2018 Nov;
28(6):888-895.
PMID: 30445632
Total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) are heritable risk factors for cardiovascular disease, yet the molecular mechanisms underlying the majority of blood lipid-associated genome-wide association studies signals remain...
6.
Strande N, Brnich S, Roman T, Berg J
Genet Med
. 2018 Jul;
20(9):918-926.
PMID: 29988079
Understanding clinical genetic test results in the era of next-generation sequencing has become increasingly complex, necessitating clear and thorough guidelines for sequence variant interpretation. To meet this need the American...
7.
Roman T, Mohlke K
Curr Opin Genet Dev
. 2018 Feb;
50:52-59.
PMID: 29471259
Many genome-wide association studies (GWAS) have identified signals located in non-coding regions, and an increasing number of functional genomics annotations of regulatory elements and assays of regulatory activity have been...
8.
Roman T, Cannon M, Vadlamudi S, Buchkovich M, Wolford B, Welch R, et al.
Diabetes
. 2017 Jul;
66(9):2521-2530.
PMID: 28684635
Molecular mechanisms remain unknown for most type 2 diabetes genome-wide association study identified loci. Variants associated with type 2 diabetes and fasting glucose levels reside in introns of , a...
9.
Spracklen C, Chen P, Kim Y, Wang X, Cai H, Li S, et al.
Hum Mol Genet
. 2017 Mar;
26(9):1770-1784.
PMID: 28334899
Large-scale meta-analyses of genome-wide association studies (GWAS) have identified >175 loci associated with fasting cholesterol levels, including total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglycerides...
10.
Roman T, Marvelle A, Fogarty M, Vadlamudi S, Gonzalez A, Buchkovich M, et al.
Am J Hum Genet
. 2015 Dec;
97(6):801-15.
PMID: 26637976
Genome-wide association studies (GWASs) have identified more than 150 loci associated with blood lipid and cholesterol levels; however, the functional and molecular mechanisms for many associations are unknown. We examined...