Rowmika Ravi

University of Turku — Finland

Medicine · Health Sciences

7h-index175citations19works0.82yr avg
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Research Topics

Thyroid Disorders and Treatments(3), Cellular Mechanics and Interactions(2), Skin and Cellular Biology Research(2), Immunodeficiency and Autoimmune Disorders(2), Erythrocyte Function and Pathophysiology(2)

Publications19 total

Very-early-onset autoimmune hypothyroidism: a report of two cases with STAT3 gain-of-function variant
European Thyroid Journal·2025Open Access
Decoding SLC26A7'S role in congenital hypothyroidism: delayed onset, very large goiters, and thyrotropin dependent basolateral expression
Endocrine Abstracts·2024
Altered skull and bone morphology in hyperthyroid knock-in mice with TSHR M453T and D633H mutations
Endocrine Abstracts·2024
Identification of a stat3 mutation, P.THR716MET in two cases of very early-onset autoimmune hypothyroidism
Endocrine Abstracts·2024
Mechanisms of thyrotropin receptor–mediated phenotype variability deciphered by gene mutations and M453T-knockin model
JCI Insight·2024· 4 citedOpen Access
Effects of SLCO1B1 Genetic Variant on Metabolite Profile in Participants on Simvastatin Treatment
Metabolites·2022· 9 citedOpen Access
Metabolite Signature of Simvastatin Treatment Involves Multiple Metabolic Pathways
Metabolites·2022· 16 citedOpen Access
Metabolite Signature in the Carriers of Pathogenic Genetic Variants for Cardiomyopathy: A Population-Based METSIM Study
Metabolites·2022· 2 citedOpen Access
Understanding the complexity of epimorphic regeneration in zebrafish caudal fin tissue: A transcriptomic and proteomic approach
Genomics·2022· 17 citedOpen Access
Saliva microbiome in primary Sjögren’s syndrome reveals distinct set of disease‐associated microbes
Oral Diseases·2019· 50 cited
A founder mutation <i>MLC1</i> c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts‐1 in north Indian kindred
Clinical Genetics·2018· 5 cited
SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes
Database·2018· 23 citedOpen Access
Pharmacogenetic Landscape of <i>DPYD</i> Variants in South Asian Populations by Integration of Genome-Scale Data
Pharmacogenomics·2017· 30 cited
Case Report: Whole exome sequencing identifies variation c.2308G&gt;A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiency
F1000Research·2017· 2 citedOpen Access
<scp>E</scp>gyptian tale from <scp>I</scp>ndia: application of whole‐exome sequencing in diagnosis of atypical familial <scp>M</scp>editerranean fever
International Journal of Rheumatic Diseases·2017· 8 cited
Case Report: Whole exome sequencing identifies variation c.2308G&gt;A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiency
F1000Research·2016· 3 citedOpen Access
Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa
F1000Research·2016· 2 citedOpen Access
Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa
F1000Research·2016· 3 citedOpen Access
(a) Heat map of differentially expressed genes.
Figshare·2015· 1 citedOpen Access

Frequent Co-authors

Shamsudheen Karuthedath Vellarikkal(9), Ankit Verma(9), Sridhar Sivasubbu(9), Vinod Scaria(9), Rijith Jayarajan(8), Kristiina Makkonen(5), Jukka Kero(5), Vigneshwar Senthivel(4), Anoop Kumar(4), Markku Laakso(4), Lilian Fernandes Silva(3), Jagadish Vangipurapu(3), Vladyslav Melnyk(3), Veli Linnossuo(3), Johanna Ojala(3), Pulukool Sandhya(2), Debashish Danda(2), Judith Mary Hariprakash(2), Vishal Dixit(2), Paras Sehgal(2)