| Genomic characterization and epidemiology of an emerging SARS-CoV-2 variant in Delhi, India MS Dhar, R Marwal, R Vs, K Ponnusamy, B Jolly, RC Bhoyar, V Sardana, ... Science 374 (6570), 995-999, 2021 | 342 | 2021 |
| Coffin–Siris syndrome is a SWI/SNF complex disorder Y Tsurusaki, N Okamoto, H Ohashi, S Mizuno, N Matsumoto, Y Makita, ... Clinical genetics 85 (6), 548-554, 2014 | 155 | 2014 |
| Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in southern region of India: report and review UR Dutta, P Rajitha, VK Pidugu, AB Dalal Journal of assisted reproduction and genetics 28, 145-149, 2011 | 138 | 2011 |
| Fertility in men with Down syndrome: a case report M Pradhan, A Dalal, F Khan, S Agrawal Fertility and sterility 86 (6), 1765. e1-1765. e3, 2006 | 118 | 2006 |
| Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism FL Harms, KM Girisha, AA Hardigan, F Kortüm, A Shukla, M Alawi, A Dalal, ... The American Journal of Human Genetics 100 (1), 117-127, 2017 | 81 | 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 | 81 | 2012 |
| Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI PN Kantaputra, H Kayserili, Y Güven, W Kantaputra, MC Balci, ... Journal of inherited metabolic disease 37, 263-268, 2014 | 59 | 2014 |
| Immunization status of children in Goa B Order Birth 1 (86.6), 12-2, 2005 | 58 | 2005 |
| Morphometric analysis of face in dysmorphology AB Dalal, SR Phadke Computer methods and programs in biomedicine 85 (2), 165-172, 2007 | 57 | 2007 |
| 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 | 49 | 2019 |
| Spectrum of lysosomal storage disorders at a medical genetics center in northern India PK Verma, P Ranganath, AB Dalal, SR Phadke Indian pediatrics 49, 799-804, 2012 | 49 | 2012 |
| H syndrome: novel and recurrent mutations in SLC29A3 TP Priya, N Philip, V Molho‐Pessach, T Busa, A Dalal, A Zlotogorski British Journal of Dermatology 162 (5), 1132-1134, 2010 | 49 | 2010 |
| Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy GSL Bhavani, H Shah, A Shukla, N Gupta, K Gowrishankar, AP Rao, ... American journal of medical genetics Part A 170 (2), 410-417, 2016 | 46 | 2016 |
| Mutations in patients with osteogenesis imperfecta from consanguineous Indian families J Stephen, KM Girisha, A Dalal, A Shukla, H Shah, P Srivastava, U Kornak, ... European journal of medical genetics 58 (1), 21-27, 2015 | 45 | 2015 |
| 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 | 44 | 2014 |
| Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in South India UR Dutta, R Ponnala, VK Pidugu, AB Dalal Archives of Iranian medicine 16 (5), 0-0, 2013 | 43 | 2013 |
| ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation M Alber, VM Kalscheuer, E Marco, E Sherr, G Lesca, M Till, G Gradek, ... Neurology: Genetics 3 (3), e148, 2017 | 42 | 2017 |
| Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta J Stephen, A Shukla, A Dalal, KM Girisha, H Shah, N Gupta, M Kabra, ... American journal of medical genetics Part A 164 (6), 1482-1489, 2014 | 39 | 2014 |
| Breakpoint mapping of a novel de novo translocation t (X; 20)(q11. 1; p13) by positional cloning and long read sequencing UR Dutta, SN Rao, VK Pidugu, VS Vineeth, A Bhattacherjee, AD Bhowmik, ... Genomics 111 (5), 1108-1114, 2019 | 38 | 2019 |
| A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians N Kausthubham, A Shukla, N Gupta, GS Bhavani, S Kulshrestha, ... Human mutation 42 (4), e15-e61, 2021 | 37 | 2021 |
Shagun AggarwalProfessor and Adjunct Scientist, Medical Genetics, Nizam's Institute of Medical SciencesVerified email at cdfd.org.in
