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
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Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India

罕见遗传疾病的产前诊断：印度一家三级遗传中心十四年的经验

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-04003-9
Sheth, Jayesh; Dhondekar, Tejasvi; Ajagekar, Manali; Datar, Chaitanya; Kher, Archana; Trivedi, Jigish; Thakkar, Swati; Gandhi, Ajit; Soni, Meenakshi; Chaudhary, Mayank; Banker, Manish; Jalan, Anil; Muranjan, Mamta; Munshi, Sujal; Munshi, Ami; Pandya, Mili; Shah, Jhanvi; Nair, Aadhira; Bhavsar, Riddhi; Sheth, Frenny; Sheth, Harsh
发表日期：2025
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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
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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
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Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature

印度成年人群中溶酶体贮积症的诊断：一家三级遗传中心的经验及文献综述

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.12407
Sheth, Jayesh; Nair, Aadhira; Bhavsar, Riddhi; Godbole, Koumudi; Datar, Chaitanya; Nampoothiri, Sheela; Panigrahi, Inusha; Shah, Heli; Bajaj, Shruti; Tayade, Naresh; Bhardwaj, Naveen; Sheth, Harsh
发表日期：2024
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Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

SUMF1基因新型错义变异导致的晚期婴儿型多重硫酸酯酶缺乏症：病例报告及综述

期刊:BMC Pediatrics
影响因子:2
doi:10.1186/s12887-023-03955-w
Sheth, Jayesh; Shah, Siddharth; Datar, Chaitanya; Bhatt, Kaveri; Raval, Pooja; Nair, Aadhira; Jain, Deepika; Shah, Jhanvi; Sheth, Frenny; Sheth, Harsh
发表日期：2023
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Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India

印度病例报告：由PSAP基因新型错义变异引起的迟发性婴儿期和成人期发病的异染性脑白质营养不良

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.12374
Sheth, Jayesh; Nair, Aadhira; Bhavsar, Riddhi; Shah, Heli; Tayade, Naresh; Prabha, C Ratna; Sheth, Frenny; Sheth, Harsh
PSA
神经科学
发表日期：2023
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A Narrative Review of New Treatment Options for Diabetic Nephropathy

糖尿病肾病新治疗方案的叙述性综述

期刊:Cureus Journal of Medical Science
影响因子:1.3
doi:10.7759/cureus.33235
Pillai, Aadhira; Fulmali, Darshna
糖尿病
糖尿病肾病
代谢
发表日期：2023
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The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome

GALNS p.P77R 变异可能是古吉拉特-印度裔人群的创始突变，可导致粘多糖贮积症 IVA 综合征。

期刊:BMC Genomics
影响因子:3.7
doi:10.1186/s12864-022-08693-4
Sheth, Harsh; Naik, Premal; Shah, Maulin; Bhavsar, Riddhi; Nair, Aadhira; Sheth, Frenny; Sheth, Jayesh
发表日期：2022
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An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report

印度患者携带EXTL3基因纯合c.953C>T变异，并出现罕见的免疫骨骼发育不良伴神经发育异常：病例报告

期刊:BMC Pediatrics
影响因子:2
doi:10.1186/s12887-022-03143-2
Bajaj, Shruti; Satoskar, Purnima; Nair, Aadhira; Sheth, Frenny; Sheth, Jayesh; Sheth, Harsh
发育与干细胞
神经科学
免疫/内分泌
发表日期：2022
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