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Page 1
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Sheth H, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Gandhi A, Sowani A, Kale S, Jalan A, Solanki D, Dalal A, Mane S, Prabha CR, Sheth F, Joshi CG, Joshi M, Sheth J. Sheth H, et al. Among authors: solanki d. Hum Genomics. 2024 May 10;18(1):46. doi: 10.1186/s40246-024-00613-9. Hum Genomics. 2024. PMID: 38730490 Free PMC article.
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.
Mistri M, Mehta S, Solanki D, Kamate M, Gupta N, Kabra M, Puri R, Girisha K, Hariharan S, Nampoothiri S, Sheth F, Sheth J. Mistri M, et al. Among authors: solanki d. J Hum Genet. 2019 Oct;64(10):985-994. doi: 10.1038/s10038-019-0647-8. Epub 2019 Aug 6. J Hum Genet. 2019. PMID: 31388111
Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1.
Tamhankar PM, Vasudevan L, Kondurkar P, Niazi S, Christopher R, Solanki D, Dholakia P, Muranjan M, Kamate M, Kalane U, Sheth J, Tamhankar V, Gulati R, Vasikarla M, Danda S, Naushad SM, Girisha KM, Patil S. Tamhankar PM, et al. Among authors: solanki d. J Pediatr Genet. 2021 Sep;10(3):213-221. doi: 10.1055/s-0040-1715528. Epub 2020 Sep 2. J Pediatr Genet. 2021. PMID: 34504725 Free PMC article.
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.
Sheth F, Shah J, Jain D, Shah S, Patel H, Patel K, Solanki DI, Iyer AS, Menghani B, Mhatre P, Mehta S, Bajaj S, Patel V, Pandya M, Dhami D, Patel D, Sheth J, Sheth H. Sheth F, et al. Among authors: solanki di. BMC Neurol. 2023 Aug 5;23(1):292. doi: 10.1186/s12883-023-03341-0. BMC Neurol. 2023. PMID: 37543562 Free PMC article.
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J, Nair A, Sheth F, Ajagekar M, Dhondekar T, Panigrahi I, Bavdekar A, Nampoothiri S, Datar C, Gandhi A, Muranjan M, Kaur A, Desai M, Mistri M, Patel C, Naik P, Shah M, Godbole K, Kapoor S, Gupta N, Bijarnia-Mahay S, Kadam S, Solanki D, Desai S, Iyer A, Patel K, Patel H, Shah RC, Mehta S, Shah R, Bhavsar R, Shah J, Pandya M, Patel B, Shah S, Shah H, Shah S, Bajaj S, Shah S, Thaker N, Kalane U, Kamate M, Kn VR, Tayade N, Jagadeesan S, Jain D, Chandarana M, Singh J, Mehta S, Suresh B, Sheth H. Sheth J, et al. Among authors: solanki d. Orphanet J Rare Dis. 2024 Aug 13;19(1):295. doi: 10.1186/s13023-024-03300-z. Orphanet J Rare Dis. 2024. PMID: 39138584 Free PMC article.
227 results