Vimla S Aggarwal
Overview
Explore the profile of Vimla S Aggarwal including associated specialties, affiliations and a list of published articles.
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23
Citations
1142
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Recent Articles
1.
Dharmadhikari A, Abad M, Khan S, Maroofian R, Sands T, Ullah F, et al.
Nat Commun
. 2025 Feb;
16(1):1703.
PMID: 39962046
SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by...
2.
Dharmadhikari A, Abad M, Khan S, Maroofian R, Sands T, Ullah F, et al.
medRxiv
. 2024 Jan;
PMID: 38260255
encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by gene...
3.
Lowther C, Valkanas E, Giordano J, Wang H, Currall B, OKeefe K, et al.
Am J Hum Genet
. 2023 Aug;
110(9):1454-1469.
PMID: 37595579
Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic approach for the assessment of autism spectrum disorder (ASD) and fetal structural anomalies (FSAs). However, few studies have...
4.
Sharma R, Drusin M, Hostyk J, Baugh E, Aggarwal V, Goldstein D, et al.
Otol Neurotol
. 2022 Dec;
44(1):16-20.
PMID: 36509433
Objective: Idiopathic sudden sensorineural hearing loss (ISSNHL) affects 66,000 patients per year in the United States. Genetic mutations have been associated with progressive hearing loss; however, genetic mutations associated with...
5.
Jain N, Ahram D, Marasa M, Rehman A, May H, Zacharoulis S, et al.
Kidney Int Rep
. 2022 Oct;
7(10):2312-2316.
PMID: 36217514
No abstract available.
6.
Cohen A, Hostyk J, Baugh E, Buchovecky C, Aggarwal V, Recker R, et al.
Bone
. 2021 Nov;
154:116253.
PMID: 34743040
Osteoporosis in premenopausal women with intact gonadal function and no known secondary cause of bone loss is termed idiopathic osteoporosis (IOP). Women with IOP diagnosed in adulthood have profound bone...
7.
Van De Weghe J, Giordano J, Mathijssen I, Mojarrad M, Lugtenberg D, Miller C, et al.
HGG Adv
. 2021 Apr;
2(1).
PMID: 33791682
The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of...
8.
Weng P, Majmundar A, Khan K, Lim T, Shril S, Jin G, et al.
Am J Hum Genet
. 2021 Jan;
108(2):357-367.
PMID: 33508234
Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by...
9.
Alkelai A, Shohat S, Greenbaum L, Schechter T, Draiman B, Chitrit-Raveh E, et al.
J Hum Genet
. 2020 Sep;
66(3):339-343.
PMID: 32948840
Childhood-onset schizophrenia (COS) is a rare form of schizophrenia with an onset before 13 years of age. There is rising evidence that genetic factors play a major role in COS...
10.
Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses: Time to Abandon Targeted Gene Panels?
Ahram D, Aggarwal V, Sanna-Cherchi S
Am J Kidney Dis
. 2020 Aug;
76(4):451-453.
PMID: 32807573
No abstract available.