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

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine

印度建立溶酶体贮积症国家生物样本库——迈向研究和精准医疗的一步

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-026-04195-8
Sheth, Jayesh; Nair, Aadhira; Bhavsar, Riddhi; Kamate, Mahesh; Gowda, Vykuntaraju K; Bavdekar, Ashish; Kadam, Sandeep; Nampoothiri, Sheela; Datar, Chaitanya; Panigrahi, Inusha; Kaur, Anupriya; Shah, Siddharth; Mehta, Sanjeev; Jagadeesan, Sujatha; Suresh, Indrani; Prabha, C Ratna; Kapoor, Seema; Bajaj, Shruti; Devi, Radha Rama; Prajapati, Ashka; Godbole, Koumudi; Patel, Harsh; Luhar, Zulfiqar; Shah, Raju C; Iyer, Anand; Bijarnia-Mahay, Sunita; Puri, Ratna; Muranjan, Mamta; Shah, Ami; Magar, Suvarna; Gupta, Neerja; Tayade, Naresh; Kabra, Madhulika; Jalan, Anil; Solanki, Dhaval; Dalal, Ashwin; Sheth, Frenny; Sheth, Harsh
发表日期：2026
文献求助 收藏

EV-microRNA signatures in pregnant women with idiopathic recurrent pregnancy loss: deciphering microRNAome pathway networks at feto-maternal interface.

特发性复发性流产孕妇的 EV-microRNA 特征：解读胎儿-母体界面处的 microRNA 组通路网络

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2025.1578738
Bhardwaj Chitra, Rohilla Minakshi, Chopra Seema, Kaur Anupriya, Panigrahi Inusha, Srivastava Priyanka
信号转导
发表日期：2025
文献求助 收藏

Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort

RAS病谱系基因的种系激活序列变异：北印度人群的基因型-表型相关性

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2025.1677143
Gupta, Shifali; Srivastava, Priyanka; Daniel, Roshan; Bhardwaj, Chitra; Kaur, Parminder; Bawa, Pratibha; Kumari, Anu; Bhadoriya, Ravi Pratap Singh; Peters, Mrinali; Kaur, Anupriya; Panigrahi, Inusha
RAS
发表日期：2025
文献求助 收藏

NR3C1 variants and glucocorticoid response in childhood nephrotic syndrome in North India

印度北部儿童肾病综合征中NR3C1变异与糖皮质激素反应的关系

期刊:BMC Nephrology
影响因子:2.4
doi:10.1186/s12882-025-04173-5
Paranthaman, Sarranya; Srivastava, Priyanka; Kumari, Anu; Bhardwaj, Chitra; Bawa, Pratibha; Kaur, Anupriya; Panigrahi, Inusha; Dawman, Lesa; Tiewsoh, Karalanglin
免疫/内分泌
发表日期：2025
文献求助 收藏

Clinical and molecular spectrum of genetic hypertriglyceridaemia in North Indian children: a case series

北印度儿童遗传性高甘油三酯血症的临床和分子谱：病例系列研究

期刊:Pediatric Endocrinology, Diabetes and Metabolism
影响因子:
doi:10.5114/pedm.2025.148401
Banerjee, Sayan; George, Arun; Nanda, Pamali Mahaswata; Bala, Anju; Panigrahi, Inusha; Thunga, Chennakeshava; Lal, Sadhna; Verma Attri, Savita; Kabeerdoss, Jayakanthan; Dayal, Devi
发表日期：2025
文献求助 收藏

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India

基于单分子分子倒置探针的新型综合遗传筛查方法的开发、验证和应用，用于印度 29 种常见溶酶体贮积症

期刊:Human Genomics
影响因子:3.8
doi:10.1186/s40246-024-00613-9
Harsh Sheth #, Aadhira Nair #, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Kou
信号转导
发表日期：2024
文献求助 收藏

Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort

1型神经纤维瘤病：北印度人群的临床特征和突变谱

期刊:Heliyon
影响因子:3.6
doi:10.1016/j.heliyon.2023.e23685
Srivastava, Priyanka; Gupta, Shifali; Bamba, Chitra; Daniel, Roshan; Kaur, Parminder; Kaur, Anupriya; Panigrahi, Inusha; Mandal, Kausik
发表日期：2024
文献求助 收藏

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre

印度罕见遗传病的负担：三级医疗中心二十二年的经验

期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/s13023-024-03300-z
Jayesh Sheth, Aadhira Nair, Frenny Sheth, Manali Ajagekar, Tejasvi Dhondekar, Inusha Panigrahi, Ashish Bavdekar, Sheela Nampoothiri, Chaitanya Datar, Ajit Gandhi, Mamta Muranjan, Anupriya Kaur, Manisha Desai, Mehul Mistri, Chitra Patel, Premal Naik, Maulin Shah, Koumudi Godbole, Seema Kapoor, Neerja
信号转导
发表日期：2024
文献求助 收藏

SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries

北印度特发性矮小症中SHOX基因变异及亚洲国家病例回顾

期刊:Journal of Clinical Research in Pediatric Endocrinology
影响因子:1.5
doi:10.4274/jcrpe.galenos.2023.2023-3-13
Srivastava, Priyanka; Tyagi, Ankita; Bamba, Chitra; Kumari, Anu; Kaur, Harvinder; Seth, Saurabh; Kaur, Anupriya; Panigrahi, Inusha; Dayal, Devi; Pramanik, Subhodip; Mandal, Kausik
发表日期：2024
文献求助 收藏

Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in a North Indian Population

雌激素受体1基因多态性及其与北印度人群特发性矮小症的关联

期刊:Journal of Clinical Research in Pediatric Endocrinology
影响因子:1.5
doi:10.4274/jcrpe.galenos.2024.2023-11-7
Patel, Ravi Shankar; Daniel, Roshan; Bhardwaj, Chitra; Kumari, Anu; Bawa, Pratibha; Tyagi, Ankita; Dayal, Devi; Kaur, Anupriya; Panigrahi, Inusha; Kaur, Harvinder; Srivastava, Priyanka
信号转导
免疫/内分泌
发表日期：2024
文献求助 收藏