Saumya Shekhar Jamuar
Overview
Explore the profile of Saumya Shekhar Jamuar including associated specialties, affiliations and a list of published articles.
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Articles
48
Citations
240
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0
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Recent Articles
1.
Htoo C, Ng J, Sim D, Goh J, Lim J, Goh J, et al.
Clin Dysmorphol
. 2025 Feb;
PMID: 39945651
No abstract available.
2.
Zhang S, Tan G, Peh S, Ang S, Kam S, Lim W, et al.
Lancet Reg Health West Pac
. 2025 Feb;
55:101471.
PMID: 39911648
No abstract available.
3.
Goh S, Jamuar S, Chua S, Yeo D, Goh J, Chin C, et al.
Ann Acad Med Singap
. 2025 Jan;
53(12):734-741.
PMID: 39748172
Introduction: Pharmacogenomic testing in psychiatry is an emerging area with potential clinical application of guiding medication choice and dosing. Interest has been fanned by commercial pharmacogenomic providers who have commonly...
4.
Lee Y, Pua C, Bylstra Y, Jamuar S, Devi Balakrishnan I
JACC Case Rep
. 2024 Dec;
29(22):102646.
PMID: 39691896
Hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC) are phenotypically distinct inherited cardiac diseases. This case report presents a woman aged 51 years with coinheritance of pathogenic/likely pathogenic variants...
5.
Raven-Adams M, Hernandez-Boussard T, Joly Y, Knoppers B, Chandrasekharan S, Thorogood A, et al.
Nat Genet
. 2024 Sep;
56(10):1985-1988.
PMID: 39251787
No abstract available.
6.
Lau S, Jiin Ying L, Goh C, Choo J, Chow C, Ling S, et al.
Clin Dysmorphol
. 2024 Aug;
33(4):176-182.
PMID: 39140378
Introduction: Neurodevelopmental disorders (NDDs) comprise conditions that emerge during the child's development and contribute significantly to global health and economic burdens. De novo variants in CNOT3 have been linked to...
7.
Baynam G, Hartman A, Letinturier M, Bolz-Johnson M, Carrion P, Grady A, et al.
Lancet Glob Health
. 2024 Jun;
12(7):e1192-e1199.
PMID: 38876765
Rare diseases affect over 300 million people worldwide and are gaining recognition as a global health priority. Their inclusion in the UN Sustainable Development Goals, the UN Resolution on Addressing...
8.
Adams D, van Karnebeek C, Agullo S, Faundes V, Jamuar S, Lynch S, et al.
Eur J Med Genet
. 2024 Jun;
70:104951.
PMID: 38848991
The International Rare Diseases Research Consortium (IRDiRC) Diagnostic Scientific Committee (DSC) is charged with discussion and contribution to progress on diagnostic aspects of the IRDiRC core mission. Specifically, IRDiRC goals...
9.
Moynihan D, Monaco S, Ting T, Narasimhalu K, Hsieh J, Kam S, et al.
Sci Rep
. 2024 May;
14(1):10084.
PMID: 38698204
No abstract available.
10.
Moynihan D, Monaco S, Ting T, Narasimhalu K, Hsieh J, Kam S, et al.
Sci Rep
. 2024 Feb;
14(1):5056.
PMID: 38424111
Rare genetic diseases affect 5-8% of the population but are often undiagnosed or misdiagnosed. Electronic health records (EHR) contain large amounts of data, which provide opportunities for analysing and mining....