Vani Rajan
Overview
Explore the profile of Vani Rajan including associated specialties, affiliations and a list of published articles.
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Articles
7
Citations
441
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0
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Recent Articles
1.
Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, et al.
Am J Hum Genet
. 2024 Jun;
111(7):1271-1281.
PMID: 38843839
There is mounting evidence of the value of clinical genome sequencing (cGS) in individuals with suspected rare genetic disease (RGD), but cGS performance and impact on clinical care in a...
2.
Rajan V, Terry S, Green J, Ortega J
Genet Test Mol Biomarkers
. 2022 May;
26(5):253-254.
PMID: 35593883
No abstract available.
3.
Krantz I, Medne L, Weatherly J, Wild K, Biswas S, Devkota B, et al.
JAMA Pediatr
. 2021 Sep;
175(12):1218-1226.
PMID: 34570182
Importance: Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants, but widespread adoption and implementation requires evidence of an effect on clinical management. Objective: To...
4.
Scocchia A, Wigby K, Masser-Frye D, Del Campo M, Galarreta C, Thorpe E, et al.
NPJ Genom Med
. 2019 Feb;
4:5.
PMID: 30792901
Patients with rare, undiagnosed, or genetic disease (RUGD) often undergo years of serial testing, commonly referred to as the "diagnostic odyssey". Patients in resource-limited areas face even greater challenges-a definitive...
5.
Gross A, Ajay S, Rajan V, Brown C, Bluske K, Burns N, et al.
Genet Med
. 2018 Oct;
21(5):1121-1130.
PMID: 30293986
Purpose: Current diagnostic testing for genetic disorders involves serial use of specialized assays spanning multiple technologies. In principle, genome sequencing (GS) can detect all genomic pathogenic variant types on a...
6.
Dolzhenko E, van Vugt J, Shaw R, Bekritsky M, van Blitterswijk M, Narzisi G, et al.
Genome Res
. 2017 Sep;
27(11):1895-1903.
PMID: 28887402
Identifying large expansions of short tandem repeats (STRs), such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-genome sequencing (WGS) data. A...
7.
Vanderver A, Simons C, Helman G, Crawford J, Wolf N, Bernard G, et al.
Ann Neurol
. 2016 May;
79(6):1031-1037.
PMID: 27159321
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or genetic leukoencephalopathy. WES analyses...