| The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care BT Wilson, Z Stark, RE Sutton, S Danda, AV Ekbote, SM Elsayed, ... Genetics in medicine 18 (5), 483-493, 2016 | 174 | 2016 |
| Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial PK Mistry, E Lukina, HB Turkia, D Amato, H Baris, M Dasouki, M Ghosn, ... Jama 313 (7), 695-706, 2015 | 170 | 2015 |
| Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome AM Alazami, A Al-Saif, A Al-Semari, S Bohlega, S Zlitni, F Alzahrani, ... The American Journal of Human Genetics 83 (6), 684-691, 2008 | 150 | 2008 |
| Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect P Brouillard, M Ghassibé, A Penington, LM Boon, A Dompmartin, ... Journal of Medical Genetics 42 (2), e13-e13, 2005 | 146 | 2005 |
| Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis AL Fenwick, M Kliszczak, F Cooper, J Murray, L Sanchez-Pulido, ... The American Journal of Human Genetics 99 (1), 125-138, 2016 | 105 | 2016 |
| Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with G aucher disease type 1: The phase 3 ENGAGE trial PK Mistry, E Lukina, H Ben Turkia, SP Shankar, H Baris, M Ghosn, ... American journal of hematology 92 (11), 1170-1176, 2017 | 93 | 2017 |
| Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa DJ Ralser, FBÜ Basmanav, A Tafazzoli, J Wititsuwannakul, S Delker, ... The Journal of clinical investigation 127 (4), 1485-1490, 2017 | 89 | 2017 |
| Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia A Dalal, SL Bhavani G, PP Togarrati, T Bierhals, MR Nandineni, S Danda, ... American Journal of Medical Genetics Part A 158 (11), 2820-2828, 2012 | 80 | 2012 |
| Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration AE Schaffer, MW Breuss, AO Caglayan, N Al-Sanaa, HY Al-Abdulwahed, ... Nature genetics 50 (8), 1093-1101, 2018 | 70 | 2018 |
| Neonatal hearing screening—Experience from a tertiary care hospital in Southern India AM Augustine, AK Jana, KA Kuruvilla, S Danda, A Lepcha, J Ebenezer, ... Indian pediatrics 51, 179-183, 2014 | 55 | 2014 |
| Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing J Busch, V Frank, N Bachmann, A Otsuka, V Oji, D Metze, K Shah, ... The Journal of investigative dermatology 132 (10), 2473-2476, 2012 | 46 | 2012 |
| 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 |
| GALNS mutations in Indian patients with mucopolysaccharidosis IVA AM Bidchol, A Dalal, H Shah, S S, S Nampoothiri, M Kabra, N Gupta, ... American Journal of Medical Genetics Part A 164 (11), 2793-2801, 2014 | 43 | 2014 |
| Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura FB Basmanav, G Fritz, GG Lestringant, D Pachat, S Hoffjan, J Fischer, ... The Journal of investigative dermatology 135 (2), 615-618, 2015 | 38 | 2015 |
| Three siblings with Woodhouse–Sakati syndrome in an Indian family G Koshy, S Danda, N Thomas, V Mathews, V Viswanathan Clinical dysmorphology 17 (1), 57-60, 2008 | 38 | 2008 |
| Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients VR Boggula, A Shukla, S Danda, SV Hariharan, S Nampoothiri, R Kumar, ... Indian Journal of Medical Research 139 (1), 66-75, 2014 | 35 | 2014 |
| A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis AV Ekbote, D Danda, S Kumar, S Danda, V Madhuri, S Gibikote Seminars in arthritis and rheumatism 42 (6), 582-589, 2013 | 35 | 2013 |
| Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1 PK Mistry, M Balwani, HN Baris, HB Turkia, TA Burrow, J Charrow, ... Blood cells, molecules & diseases 71, 71-74, 2018 | 34 | 2018 |
| Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene-a case report and review of the literature AV Ekbote, S Danda, A Zankl, K Mandal, T Maguire, K Ungerer Journal of Clinical Research in Pediatric Endocrinology 6 (1), 40, 2014 | 30 | 2014 |
| Tumour necrosis factor (TNF)-α-308 gene polymorphism in Indian patients with Takayasu's arteritis-A pilot study P Sandhya, S Danda, D Danda, S Lonarkar, SS Luke, S Sinha, G Joseph Indian Journal of Medical Research 137 (4), 749-752, 2013 | 30 | 2013 |
