Navaneethakrishnan Krishnamoorthy
Overview
Explore the profile of Navaneethakrishnan Krishnamoorthy including associated specialties, affiliations and a list of published articles.
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26
Citations
172
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Recent Articles
1.
Devadoss Gandhi G, Aliyev E, Syed N, Vempalli F, Saad C, Mbarek H, et al.
Genet Med
. 2024 Sep;
26(12):101268.
PMID: 39286960
Purpose: To date, approximately 1400 inherited metabolic disorders (IMDs) have been described, some of which are treatable. It is estimated that 2% to 3% of live births worldwide are affected...
2.
Aamer W, Al-Maraghi A, Syed N, Devadoss Gandhi G, Aliyev E, Al-Kurbi A, et al.
Genome Med
. 2024 Apr;
16(1):46.
PMID: 38584274
Background: Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies. Methods: Here,...
3.
Devadoss Gandhi G, Aamer W, Krishnamoorthy N, Syed N, Aliyev E, Al-Maraghi A, et al.
J Transl Med
. 2022 Nov;
20(1):502.
PMID: 36329474
Background: The genetic architecture underlying Familial Hypercholesterolemia (FH) in Middle Eastern Arabs is yet to be fully described, and approaches to assess this from population-wide biobanks are important for public...
4.
Alkowari M, Espino-Guarch M, Daas S, Abdelrahman D, Hasan W, Krishnamoorthy N, et al.
Int J Mol Sci
. 2022 Mar;
23(6).
PMID: 35328790
Hereditary hearing loss (HHL) is a common genetic disorder accounting for at least 60% of pre-lingual deafness in children, of which 70% is inherited in an autosomal recessive pattern. The...
5.
Al-Kurbi A, Daas S, Aamer W, Krishnamoorthy N, Poggiolini I, Abdelrahman D, et al.
Eur J Med Genet
. 2022 Feb;
65(4):104455.
PMID: 35182808
Rare deletions and duplications on the long arm of Chromosome 21 have previously been reported in many patients with craniofacial and developmental phenotypes. However, this Down Syndrome Critical Region (DSCR)...
6.
Selvaraj S, Rodrigues D, Krishnamoorthy N, Fakhro K, Saraiva L, Lemos M
J Pers Med
. 2022 Jan;
12(1).
PMID: 35055433
Nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by renal unresponsiveness to the hormone vasopressin, leading to excretion of large volumes of diluted urine. Mutations in the arginine vasopressin...
7.
Krishnamoorthy N, Fakhro K
IUBMB Life
. 2021 Mar;
73(4):670-675.
PMID: 33749986
Mutations in the novel coronavirus SARS-CoV2 are the major concern as they might lead to drug/vaccine resistance. In the host cell, the virus largely depends on the main protease (M...
8.
Rawat A, Rinchai D, Toufiq M, Marr A, Kino T, Garand M, et al.
Front Immunol
. 2020 Dec;
11:587946.
PMID: 33329570
Transcriptome profiling approaches have been widely used to investigate the mechanisms underlying psoriasis pathogenesis. Most researchers have measured changes in transcript abundance in skin biopsies; relatively few have examined transcriptome...
9.
Girotto G, Morgan A, Krishnamoorthy N, Cocca M, Brumat M, Bassani S, et al.
Front Genet
. 2019 Mar;
10:142.
PMID: 30863428
Age-related hearing loss (ARHL) is the most common sensory impairment in the elderly affecting millions of people worldwide. To shed light on the genetics of ARHL, a large cohort of...
10.
Daas S, Fakhro K, Thanassoulas A, Krishnamoorthy N, Saleh A, Calver B, et al.
Biochem J
. 2018 Nov;
475(24):3933-3948.
PMID: 30446606
The most common inherited cardiac disorder, hypertrophic cardiomyopathy (HCM), is characterized by thickening of heart muscle, for which genetic mutations in cardiac myosin-binding protein C3 () gene, is the leading...