| 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 | 154 | 2014 |
| Preeclampsia in North Indian women: the contribution of genetic polymorphisms S Aggarwal, N Dimri, I Tandon, S Agarwal Journal of Obstetrics and Gynaecology Research 37 (10), 1335-1341, 2011 | 71 | 2011 |
| Vascular endothelial growth factor gene polymorphisms in North Indian patients with recurrent miscarriages S Aggarwal, F Parveen, RM Faridi, S Phadke, M Borkar, S Agrawal Reproductive biomedicine online 22 (1), 59-64, 2011 | 54 | 2011 |
| Medical genetics and genomic medicine in India: current status and opportunities ahead S Aggarwal, SR Phadke Molecular genetics & genomic medicine 3 (3), 160, 2015 | 39 | 2015 |
| A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum S Aggarwal, AD Bhowmik, VL Ramprasad, S Murugan, A Dalal American Journal of Medical Genetics Part A 170 (7), 1868-1873, 2016 | 34 | 2016 |
| Novel and recurrent mutations in WISP3 and an atypical phenotype GSL Bhavani, H Shah, AB Dalal, A Shukla, S Danda, S Aggarwal, ... Am J Med Genet A 167 (10), 2481-2484, 2015 | 32 | 2015 |
| Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II A Uttarilli, P Ranganath, D Matta, J Md Nurul Jain, K Prasad, AS Babu, ... Clinical genetics 90 (6), 496-508, 2016 | 29 | 2016 |
| Aetiologic spectrum of mental retardation & developmental delay in India S Aggarwal, VR Bogula, K Mandal, R Kumar, SR Phadke Indian journal of medical Research 136 (3), 436-444, 2012 | 29 | 2012 |
| Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia S Aggarwal, W Jinda, C Limwongse, L Atchaneeyasakul, SR Phadke Molecular vision 17, 1305, 2011 | 29 | 2011 |
| Recurrent and novel GLB1 mutations in India AM Bidchol, A Dalal, R Trivedi, A Shukla, S Nampoothiri, VH Sankar, ... Gene 567 (2), 173-181, 2015 | 28 | 2015 |
| Exome sequencing for perinatal phenotypes: the significance of deep phenotyping S Aggarwal, VS Vineeth, A Das Bhowmik, A Tandon, A Kulkarni, ... Prenatal Diagnosis 40 (2), 260-273, 2020 | 27 | 2020 |
| Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical … K Tallapaka, V Venugopal, A Dalal, S Aggarwal American Journal of Medical Genetics Part A 176 (4), 1006-1010, 2018 | 25 | 2018 |
| Ghosal hematodiaphyseal dysplasia—a concise review including an illustrative patient R Arora, S Aggarwal, S Deme Skeletal radiology 44, 447-450, 2015 | 25 | 2015 |
| Computer-aided facial analysis in diagnosing dysmorphic syndromes in Indian children DL Narayanan, P Ranganath, S Aggarwal, A Dalal, SR Phadke, K Mandal Indian Pediatrics 56, 1017-1019, 2019 | 24 | 2019 |
| Novel nonsense mutation of ABHD5 in Dorfman–Chanarin syndrome with unusual findings: A challenge for genotype–phenotype correlation S Aggarwal, JS Maras, S Alam, R Khanna, SK Gupta, A Ahuja European Journal of Medical Genetics 55 (3), 173-177, 2012 | 24 | 2012 |
| Prenatal phenotyping: a community effort to enhance the Human Phenotype Ontology F Dhombres, P Morgan, BP Chaudhari, I Filges, TN Sparks, P Lapunzina, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2022 | 22 | 2022 |
| Intracardiac echogenic focus and fetal outcome G Gupta, S Aggarwal, SR Phadke Journal of Clinical Ultrasound 38 (9), 466-469, 2010 | 22 | 2010 |
| Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century S Aggarwal Gene 528 (1), 41-45, 2013 | 20 | 2013 |
| 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 |
| Late termination of pregnancy for fetal abnormalities: The perspective of Indian lay persons and medical practitioners SR Phadke, M Agarwal, S Aggarwal Prenatal diagnosis 31 (13), 1286-1291, 2011 | 19 | 2011 |
