Sampathkumar Rangasamy
Overview
Explore the profile of Sampathkumar Rangasamy including associated specialties, affiliations and a list of published articles.
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Articles
28
Citations
963
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Recent Articles
1.
Leung M, Sanchez-Castillo M, Belnap N, Naymik M, Bonfitto A, Sloan J, et al.
Rare
. 2024 May;
2.
PMID: 38770537
Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay...
2.
Abraham A, Ramsey K, Belnap N, Szelinger S, Jepsen W, Balak C, et al.
Clin Genet
. 2024 May;
106(1):114-115.
PMID: 38715525
FGF12 related epilepsy presents with variable phenotypes. We report another patient with a duplication involving the FGF12 gene who presented similar to other published cases having normal early development and...
3.
Frankel E, Podder A, Sharifi M, Pillai R, Belnap N, Ramsey K, et al.
Cells
. 2023 Jul;
12(10).
PMID: 37408271
Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 () cause classical forms of Rett syndrome (RTT) in girls. A subset of patients who are recognized to have an overlapping...
4.
Halperin R, Hegde A, Lang J, Raupach E, Legendre C, Liang W, et al.
Sci Rep
. 2021 May;
11(1):10740.
PMID: 34031440
The robust detection of disease-associated splice events from RNAseq data is challenging due to the potential confounding effect of gene expression levels and the often limited number of patients with...
5.
Szelinger S, Krate J, Ramsey K, Strom S, Shieh P, Lee H, et al.
Neurol Genet
. 2020 Aug;
6(4):e468.
PMID: 32754643
Objective: Description of a new variant of the glutamine-fructose-6-phosphate transaminase 1 () gene causing congenital myasthenic syndrome (CMS) in 3 children from 2 unrelated families. Methods: Muscle biopsies, EMG, and...
6.
Rangasamy S, Monickaraj F, Legendre C, Cabrera A, Llaci L, Bilagody C, et al.
Exp Eye Res
. 2020 May;
195:108043.
PMID: 32376470
Selective pericyte loss, the histological hallmark of early diabetic retinopathy (DR), enhances the breakdown of the blood-retinal barrier (BRB) in diabetes. However, the role of pericytes on BRB alteration in...
7.
Cabrera A, Monickaraj F, Rangasamy S, Hobbs S, McGuire P, Das A
J Clin Med
. 2020 Jan;
9(1).
PMID: 31947513
Although there is strong clinical evidence that the control of blood glucose, blood pressure, and lipid level can prevent and slow down the progression of diabetic retinopathy (DR) as shown...
8.
Llaci L, Ramsey K, Belnap N, Claasen A, Balak C, Szelinger S, et al.
Hum Genet
. 2019 Nov;
138(11-12):1409-1417.
PMID: 31748968
Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating leukodystrophy, which is clinically and radiologically similar to X-linked Pelizaeus-Merzbacher disease (PMD). PMLD is characterized by early-onset nystagmus, delayed development (motor delay,...
9.
Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, et al.
Am J Hum Genet
. 2019 Aug;
105(3):509-525.
PMID: 31422817
The human RNA helicase DDX6 is an essential component of membrane-less organelles called processing bodies (PBs). PBs are involved in mRNA metabolic processes including translational repression via coordinated storage of...
10.
Jepsen W, Ramsey K, Szelinger S, Llaci L, Balak C, Belnap N, et al.
Clin Genet
. 2019 Jun;
96(2):183-185.
PMID: 31236915
No abstract available.