Vimla Aggarwal
Overview
Explore the profile of Vimla Aggarwal including associated specialties, affiliations and a list of published articles.
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27
Citations
694
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Recent Articles
11.
May H, Jeong J, Revah-Politi A, Cohen J, Chassevent A, Baptista J, et al.
Genet Med
. 2021 Jun;
23(10):1912-1921.
PMID: 34113010
Purpose: In this study, we aimed to characterize the clinical phenotype of a SHANK1-related disorder and define the functional consequences of SHANK1 truncating variants. Methods: Exome sequencing (ES) was performed...
12.
Ernst M, Baugh E, Thomas A, Bier L, Lippa N, Stong N, et al.
Epilepsia
. 2021 May;
62(7):e103-e109.
PMID: 34041744
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for...
13.
Cappuccio G, Ceccatelli Berti C, Baruffini E, Sullivan J, Shashi V, Jewett T, et al.
Hum Mutat
. 2021 May;
42(6):745-761.
PMID: 33942428
KARS1 encodes a lysyl-transfer RNA synthetase (LysRS) that links lysine to its cognate transfer RNA. Two different KARS1 isoforms exert functional effects in cytosol and mitochondria. Bi-allelic pathogenic variants in...
14.
Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient
Rasouly H, Aggarwal V, Bier L, Goldstein D, Gharavi A
Ann Intern Med
. 2021 Jan;
174(4):540-547.
PMID: 33460345
Genetic testing is performed more routinely in clinical practice, and direct-to-consumer tests are widely available. It has obvious appeal as a preventive health measure. Clinicians and their healthy patients increasingly...
15.
Povysil G, Chazara O, Carss K, Deevi S, Wang Q, Armisen J, et al.
JAMA Cardiol
. 2020 Dec;
6(4):379-386.
PMID: 33326012
Importance: Sequencing studies have identified causal genetic variants for distinct subtypes of heart failure (HF) such as hypertrophic or dilated cardiomyopathy. However, the role of rare, high-impact variants in HF,...
16.
Verberne E, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, et al.
Genet Med
. 2020 Oct;
23(2):374-383.
PMID: 33077894
Purpose: JARID2, located on chromosome 6p22.3, is a regulator of histone methyltransferase complexes that is expressed in human neurons. So far, 13 individuals sharing clinical features including intellectual disability (ID)...
17.
Stanley K, Giordano J, Thorsten V, Buchovecky C, Thomas A, Ganapathi M, et al.
N Engl J Med
. 2020 Aug;
383(12):1107-1116.
PMID: 32786180
Background: In the majority of cases, the cause of stillbirth remains unknown despite detailed clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to chromosomal abnormalities. However,...
18.
Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, et al.
Am J Hum Genet
. 2020 Jul;
107(3):544-554.
PMID: 32730804
RNA polymerase II interacts with various other complexes and factors to ensure correct initiation, elongation, and termination of mRNA transcription. One of these proteins is SR-related CTD-associated factor 4 (SCAF4),...
19.
Povysil G, Petrovski S, Hostyk J, Aggarwal V, Allen A, Goldstein D
Nat Rev Genet
. 2019 Oct;
20(12):747-759.
PMID: 31605095
The first phase of genome-wide association studies (GWAS) assessed the role of common variation in human disease. Advances optimizing and economizing high-throughput sequencing have enabled a second phase of association...
20.
Petrovski S, Aggarwal V, Giordano J, Stosic M, Wou K, Bier L, et al.
Lancet
. 2019 Feb;
393(10173):758-767.
PMID: 30712878
Background: Identification of chromosomal aneuploidies and copy number variants that are associated with fetal structural anomalies has substantial value. Although whole-exome sequencing (WES) has been applied to case series of...