Raj Ramesar
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Explore the profile of Raj Ramesar including associated specialties, affiliations and a list of published articles.
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93
Citations
1733
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Recent Articles
1.
Moekotte L, de Boer J, Hiddingh S, de Ligt A, Nguyen X, Hoyng C, et al.
Invest Ophthalmol Vis Sci
. 2025 Feb;
66(2):55.
PMID: 39982393
Purpose: To determine the profile of inflammation-related proteins and complement system factors in the plasma of CRB1-associated inherited retinal dystrophies (CRB1-IRDs). Methods: We used the Olink Explore 384 Inflammation II...
2.
Krause M, Sinkala M, Ramesar R
FEBS Lett
. 2025 Feb;
PMID: 39973357
Lynch syndrome (LS) is a hereditary disorder that increases the risk of colorectal cancer (CRC) due to constitutional pathogenic variants in mismatch repair (MMR) genes. When coupled with somatic mutations...
3.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn S, Iglesias-Romero A, et al.
medRxiv
. 2025 Jan;
PMID: 39830270
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the...
4.
Ndou L, Chambuso R, Algar U, Boutall A, Goldberg P, Ramesar R
Biomedicines
. 2025 Jan;
12(12.
PMID: 39767815
: Although genetic testing has improved our ability to diagnose Lynch syndrome (LS), there is still limited information on the extent of variations in the clinical and genetic landscape among...
5.
Ritter P, Glenn T, Achtyes E, Alda M, Agaoglu E, Altinbas K, et al.
Int J Bipolar Disord
. 2024 Dec;
12(1):43.
PMID: 39714599
Background: The rate of suicide attempts by patients with bipolar disorder is high. In addition to patient and country specific factors, environmental factors may contribute to suicidal behavior. Sunlight has...
6.
Midgley N, Rebello G, Holtes L, Ramesar R, Roberts L
Mol Genet Genomic Med
. 2024 Dec;
12(12):e70046.
PMID: 39676705
Background: Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders affecting millions worldwide. Despite the widespread adoption of next-generation sequencing (NGS) panels, there remains a critical...
7.
Ndou L, Chambuso R, Algar U, Goldberg P, Boutall A, Ramesar R
Biomedicines
. 2024 Oct;
12(10).
PMID: 39457514
High variability in the age at cancer diagnosis in Lynch syndrome (LS) patients is widely observed, even among relatives with the same germline pathogenic variant (PV) in the mismatch repair...
8.
Boltz T, Chu B, Liao C, Sealock J, Ye R, Majara L, et al.
bioRxiv
. 2024 Sep;
PMID: 39282356
We deployed the Blended Genome Exome (BGE), a DNA library blending approach that generates low pass whole genome (1-4× mean depth) and deep whole exome (30-40× mean depth) data in...
9.
Halim-Fikri H, Zulkipli N, Alauddin H, Bento C, Lederer C, Kountouris P, et al.
Database (Oxford)
. 2024 Sep;
2024.
PMID: 39231257
Thalassemia is one of the most prevalent monogenic disorders in low- and middle-income countries (LMICs). There are an estimated 270 million carriers of hemoglobinopathies (abnormal hemoglobins and/or thalassemia) worldwide, necessitating...
10.
Ndou L, Chambuso R, Valley-Omar Z, Rebello G, Algar U, Goldberg P, et al.
J Pers Med
. 2024 Jun;
14(6).
PMID: 38929796
Lynch syndrome (LS) is an inherited cancer predisposition disorder associated with an elevated risk of developing various solid cancers, but mostly colorectal cancer (CRC). Despite having the same germline pathogenic...