| Molecular and clinical heterogeneity in CLCN7‐dependent osteopetrosis: report of 20 novel mutations A Pangrazio, M Pusch, E Caldana, A Frattini, E Lanino, PM Tamhankar, ... Human mutation 31 (1), E1071-E1080, 2010 | 101 | 2010 |
| Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India PM Tamhankar, S Agarwal, V Arya, R Kumar, UR Gupta, SS Agarwal Prenatal Diagnosis: Published in Affiliation With the International Society …, 2009 | 77 | 2009 |
| 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 | 47 | 2012 |
| GALNS mutations in Indian patients with mucopolysaccharidosis IVA AM Bidchol, A Dalal, H Shah, S Nampoothiri, M Kabra, N Gupta, S Danda, ... American Journal of Medical Genetics Part A 164 (11), 2793-2801, 2014 | 45 | 2014 |
| 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 | 34 | 2014 |
| Diagnosis of Down syndrome and detection of origin of nondisjunction by short tandem repeat analysis S Jain, S Agarwal, I Panigrahi, P Tamhankar, S Phadke Genetic Testing and Molecular Biomarkers 14 (4), 489-491, 2010 | 32 | 2010 |
| Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46, XY disorder of sex development DK Das, SG Rahate, BP Mehta, HM Gawde, PM Tamhankar Indian journal of human genetics 19 (4), 437, 2013 | 31 | 2013 |
| Clinical applications and implications of common and founder mutations in Indian subpopulations A Ankala, PM Tamhankar, CA Valencia, KK Rayam, MM Kumar, ... Human mutation 36 (1), 1-10, 2015 | 30 | 2015 |
| Genetic predisposition of E-selectin gene (S128R) polymorphism in patients with coronary artery disease (CAD) R Tripathi, PK Singh, S Tewari, PM Tamhankar, V Ramesh, S Agarwal Indian Journal of Medical Research 130 (4), 423-427, 2009 | 30 | 2009 |
| Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes L Laugwitz, A Seibt, D Herebian, S Peralta, I Kienzle, R Buchert, R Falb, ... Journal of medical genetics 59 (9), 878-887, 2022 | 25 | 2022 |
| Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients PM Tamhankar, SV Iyer, S Ravindran, N Gupta, M Kabra, C Nayak, ... Indian Journal of Dermatology, Venereology and Leprology 81, 16, 2015 | 24 | 2015 |
| A novel hypomorphic CSF1R gene mutation in the biallelic state leading to fatal childhood neurodegeneration PM Tamhankar, B Zhu, VP Tamhankar, S Mithbawkar, L Seabra, ... Neuropediatrics 51 (04), 302-306, 2020 | 23 | 2020 |
| Lack of association of primary iron overload and common HFE gene mutations with liver cirrhosis in adult Indian population S Jain, S Agarwal, P Tamhankar, P Verma, G Choudhuri Indian Journal of Gastroenterology 30, 161-165, 2011 | 20 | 2011 |
| Spectrum of SMPD1 mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease P Ranganath, D Matta, GSL Bhavani, S Wangnekar, JMN Jain, IC Verma, ... American Journal of Medical Genetics Part A 170 (10), 2719-2730, 2016 | 19 | 2016 |
| Lipoid proteinosis: Histopathological characterization of early papulovesicular lesions R Gutte, S Sanghvi, P Tamhankar, U Khopkar Indian Dermatology Online Journal 3 (2), 148-149, 2012 | 16 | 2012 |
| Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome PM Tamhankar, L Vasudevan, S Kondurkar, K Yashaswini, SK Agarwalla, ... Journal of clinical research in pediatric endocrinology 6 (2), 79, 2014 | 15 | 2014 |
| Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene PM Tamhankar, L Vasudevan, V Bansal, SR Menon, HM Gawde, ... European Journal of Medical Genetics 58 (8), 392-399, 2015 | 14 | 2015 |
| 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 | 13 | 2016 |
| Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene P Tamhankar, S Iyer, S Sanghavi, U Khopkar Journal of Postgraduate Medicine 60 (3), 332, 2014 | 13 | 2014 |
| Phenotypic variability in congenital lipoid adrenal hyperplasia R Joshi, D Das, P Tamhankar, S Shaikh Indian Pediatr 51 (5), 399-400, 2014 | 12 | 2014 |
