| A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family N Singh, V Kumble Bhat, A Tiwari, SG Kodaganur, SJ Tontanahal, ... Human molecular genetics 26 (6), 1104-1114, 2017 | 40 | 2017 |
| Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism … S Kapoor, MH Shah, N Singh, MI Rather, V Bhat, S Gopinath, PS Bindu, ... PLoS One 11 (5), e0155605, 2016 | 34 | 2016 |
| Aging of the retina: molecular and metabolic turbulences and potential interventions L Campello, N Singh, J Advani, AK Mondal, X Corso-Díaz, A Swaroop Annual Review of Vision Science 7, 633-664, 2021 | 33 | 2021 |
| High-resolution genome topology of human retina uncovers super enhancer-promoter interactions at tissue-specific and multifactorial disease loci C Marchal, N Singh, Z Batz, J Advani, C Jaeger, X Corso-Díaz, A Swaroop Nature Communications 13 (1), 5827, 2022 | 19 | 2022 |
| HiCRes: a computational method to estimate and predict the genomic resolution of Hi-C libraries C Marchal, N Singh, X Corso-Díaz, A Swaroop Nucleic Acids Research 50 (6), e35-e35, 2022 | 11 | 2022 |
| Genetic analysis of ATP7B in 102 south Indian families with Wilson disease N Singh, P Kallollimath, MH Shah, S Kapoor, VK Bhat, LG Viswanathan, ... PloS one 14 (5), e0215779, 2019 | 11 | 2019 |
| Non-Wilsonian hepatolenticular degeneration: Clinical and MRI observations in four families from south India M Nagappa, S Sinha, JS Saini, P Kallolimath, N Singh, A Kumar, ... Journal of Clinical Neuroscience 27, 91-94, 2016 | 11 | 2016 |
| Making biological sense of genetic studies of age-related macular degeneration N Singh, A Swaroop, R Ratnapriya Age-related Macular Degeneration: From Clinic to Genes and Back to Patient …, 2021 | 5 | 2021 |
| Genome wide mapping of promoter-anchored interactions in the human retina N Singh, C Marchal, J Gentry, C Jaeger, X Corso-Díaz, A Swaroop Investigative Ophthalmology & Visual Science 61 (7), 4991-4991, 2020 | 1 | 2020 |
| Stage-specific dynamic reorganization of genome topology shapes transcriptional neighborhoods in developing human retinal organoids Z Qu, Z Batz, N Singh, C Marchal, A Swaroop Cell reports 42 (12), 2023 | | 2023 |
| High-resolution genome topology of human retina uncovers super enhancer-promoter interactions at tissue-specific and multifactorial disease loci A Swaroop, C Marchal, N Singh, Z Batz, J Advani, C Jaeger, X Corso-Diaz | | 2022 |
| Exome sequencing and functional studies in zebrafish identify WDR8 as the causative gene for isolated Microspherophakia in Indian families M Madhangi, D Dutta, S Show, VK Bhat, MI Rather, A Tiwari, N Singh, ... Human Molecular Genetics 30 (6), 467-484, 2021 | | 2021 |
| Beyond GWAS: Functional genomics of age-related macular degeneration A Swaroop, F Van Asten, M Kwiklis, K Sosina, M Starostik, N Singh, ... Investigative Ophthalmology & Visual Science 60 (9), 4246-4246, 2019 | | 2019 |
Anand SwaroopNational Eye InstituteAdresse e-mail validée de nei.nih.gov
