| Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility J Sheth, M Mistri, F Sheth, R Shah, A Bavdekar, K Godbole, N Nanavaty, ... JIMD Reports-Volume 12, 51-63, 2014 | 62 | 2014 |
| Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation J Sheth, R Bhavsar, M Mistri, D Pancholi, A Bavdekar, A Dalal, ... BMC medical genetics 20, 1-11, 2019 | 44 | 2019 |
| Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India M Mistri, PM Tamhankar, F Sheth, D Sanghavi, P Kondurkar, S Patil, ... PLoS One 7 (6), e39122, 2012 | 43 | 2012 |
| Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature J Sheth, JJ Joseph, K Shah, M Muranjan, M Mistri, F Sheth BMC Medical Genetics 18, 1-5, 2017 | 33 | 2017 |
| GM2 gangliosidosis AB variant: novel mutation from India–a case report with a review J Sheth, C Datar, M Mistri, R Bhavsar, F Sheth, K Shah BMC pediatrics 16, 1-5, 2016 | 33 | 2016 |
| Lysosomal storage disorders in nonimmune hydrops fetalis (NIHF): an Indian experience J Sheth, M Mistri, K Shah, M Chaudhary, K Godbole, F Sheth JIMD Reports, Volume 35, 47-52, 2017 | 25 | 2017 |
| Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease C Ankleshwaria, M Mistri, A Bavdekar, M Muranjan, U Dave, P Tamhankar, ... Journal of human genetics 59 (4), 223-228, 2014 | 24 | 2014 |
| Lysosomal storage disorders in Indian children with neuroregression attending a genetic center J Sheth, M Mistri, R Bhavsar, F Sheth, M Kamate, H Shah, C Datar Indian pediatrics 52, 1029-1033, 2015 | 17 | 2015 |
| Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro-a common Gaucher disease mutation in India J Sheth, D Pancholi, M Mistri, P Nath, C Ankleshwaria, R Bhavsar, R Puri, ... BMC Medical Genetics 19, 1-9, 2018 | 16 | 2018 |
| Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients J Sheth, M Mistri, R Bhavsar, D Pancholi, M Kamate, N Gupta, M Kabra, ... BMC neurology 18, 1-11, 2018 | 15 | 2018 |
| Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease J Sheth, M Mistri, C Datar, U Kalane, S Patil, M Kamate, H Shah, ... Molecular Genetics and Metabolism Reports 1, 425-430, 2014 | 14 | 2014 |
| Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease PM Tamhankar, M Mistri, P Kondurkar, D Sanghavi, J Sheth Journal of human genetics 61 (2), 163-166, 2016 | 12 | 2016 |
| Diagnostic strategy for mucolipidosis II/III JJ Sheth, M Mistri, M Kamate, S Vaja, FJ Sheth Indian pediatrics 49, 975-977, 2012 | 11 | 2012 |
| Prenatal diagnosis of lysosomal storage disorders by enzymes study using chorionic villus and amniotic fluid J Sheth, M Mistri, F Sheth, C Datar, K Godbole, M Kamate, K Patil Journal of Fetal Medicine 1 (01), 17-24, 2014 | 10 | 2014 |
| Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India J Sheth, M Mistri, L Mahadevan, S Mehta, D Solanki, M Kamate, F Sheth BMC medical genetics 19, 1-5, 2018 | 8 | 2018 |
| Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease C Ankleshwaria, M Mistri, A Bavdekar, M Muranjan, U Dave, P Tamhankar, ... J Hum Genet 60 (5), 285, 2015 | 8 | 2015 |
| Splenomegaly, cardiomegaly, and osteoporosis in a child with Gaucher disease JJ Sheth, CM Ankleshwaria, MA Mistri, N Nanavaty, SJ Mehta Case reports in Pediatrics 2011, 2011 | 8 | 2011 |
| Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with mucolipidosis type II and type III D Pasumarthi, N Gupta, J Sheth, SJMN Jain, I Rungsung, M Kabra, ... Journal of Human Genetics 65 (11), 971-984, 2020 | 7 | 2020 |
| Bi‐allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family U Kotecha, M Mistri, N Shah, PS Shah, VA Gupta Clinical Genetics 100 (6), 748-751, 2021 | 6 | 2021 |
| Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency D Deshpande, SK Gupta, AS Sarma, P Ranganath, JMN Jain S, J Sheth, ... Human Mutation 42 (10), 1336-1350, 2021 | 6 | 2021 |
