日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Very-early-onset autoimmune hypothyroidism: a report of two cases with STAT3 gain-of-function variant

极早发性自身免疫性甲状腺功能减退症：两例STAT3功能获得性变异病例报告

期刊:European Thyroid Journal
影响因子:4.3
doi:10.1530/ETJ-25-0260
Ravi, Rowmika; Niskanen, Anita; Reeve, Mary Pat; Makkonen, Kristiina; Niinikoski, Harri; Toppari, Jorma; Kero, Jukka
JAK/STAT
甲状腺功能减退
STAT3
免疫/内分泌
发表日期：2025
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Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model

促甲状腺激素受体介导的表型变异机制通过基因突变和 M453T 敲入模型揭示

期刊:JCI Insight
影响因子:6.3
doi:10.1172/jci.insight.167092
Kristiina Makkonen, Meeri Jännäri, Luís Crisóstomo, Matilda Kuusi, Konrad Patyra, Vladyslav Melnyk, Veli Linnossuo, Johanna Ojala, Rowmika Ravi, Christoffer Löf, Juho-Antti Mäkelä, Päivi Miettinen, Saila Laakso, Marja Ojaniemi, Jarmo Jääskeläinen, Markku Laakso, Filip Bossowski, Beata Sawicka, Karol
信号转导
免疫/内分泌
发表日期：2024
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Metabolite Signature in the Carriers of Pathogenic Genetic Variants for Cardiomyopathy: A Population-Based METSIM Study

心肌病致病基因变异携带者的代谢物特征：一项基于人群的METSIM研究

期刊:Metabolites
影响因子:3.7
doi:10.3390/metabo12050437
Ravi, Rowmika; Fernandes Silva, Lilian; Vangipurapu, Jagadish; Maria, Maleeha; Raivo, Joose; Helisalmi, Seppo; Laakso, Markku
心血管
MET
心肌病
代谢
发表日期：2022
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SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes

SAGE：一个整合了南亚人群全基因组和外显子组的综合性遗传变异资源库

期刊:Database-The Journal of Biological Databases and Curation
影响因子:3.6
doi:10.1093/database/bay080
Hariprakash, Judith Mary; Vellarikkal, Shamsudheen Karuthedath; Verma, Ankit; Ranawat, Anop Singh; Jayarajan, Rijith; Ravi, Rowmika; Kumar, Anoop; Dixit, Vishal; Sivadas, Ambily; Kashyap, Atul Kumar; Senthivel, Vigneshwar; Sehgal, Paras; Mahadevan, Vijayalakshmi; Scaria, Vinod; Sivasubbu, Sridhar
发表日期：2018
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Case Report: Whole exome sequencing identifies variation c.2308G>A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiency

病例报告：全外显子组测序发现 RAG1 基因 c.2308G>A p.E770K 变异与 B-T-NK+ 重症联合免疫缺陷相关

期刊:F1000Research
影响因子:
doi:10.12688/f1000research.9473.2
Govindaraj, Geeta Madathil; Karuthedath Vellarikkal, Shamsudheen; Jayarajan, Rijith; Ravi, Rowmika; Verma, Ankit; Chakkiyar, Krishnan; Jayakrishnan, Machinari Puthenpurayil; Arakkal, Riyaz; Raj, Revathi; Kunnaruvath, Rajeevan; Sivasubbu, Sridhar; Scaria, Vinod
RAG1
免疫/内分泌
发表日期：2016
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Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa

病例报告：全外显子组测序揭示了COL7A1基因中一种新的移码缺失突变p.G2254fs，该突变与常染色体隐性遗传性营养不良型大疱性表皮松解症相关。

期刊:F1000Research
影响因子:
doi:10.12688/f1000research.8380.2
Karuthedath Vellarikkal, Shamsudheen; Jayarajan, Rijith; Verma, Ankit; Nair, Sreelata; Ravi, Rowmika; Senthivel, Vigneshwar; Sivasubbu, Sridhar; Scaria, Vinod
COL
发表日期：2016
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