| Recurrent ADCY5 mutation in mosaic form with nocturnal paroxysmal dyskinesias and video electroencephalography documentation of dramatic response to caffeine treatment K Shetty, AS Sarma, M Devan, A Dalal, GK Dash, A Jannabhatla, SJ Patil Journal of movement disorders 13 (3), 238, 2020 | 15 | 2020 |
| Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect P Vignesh, M Sharma, RK Pilania, JK Shandilya, A Kaur, S Goel, A Kaur, ... Journal of Clinical Immunology 39, 611-615, 2019 | 7 | 2019 |
| Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency D Deshpande, SK Gupta, AS Sarma, P Ranganath, JMN Jain S, J Sheth, ... Human Mutation 42 (10), 1336-1350, 2021 | 6 | 2021 |
| A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth–Lazarus syndrome AS Sarma, L Banda, MR Vupputuri, A Desai, A Dalal European Journal of Medical Genetics 65 (10), 104591, 2022 | 2 | 2022 |
| Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency? AS Sarma, RP Mathew, A Dalal, V Bhat, SJ Patil European Journal of Medical Genetics 66 (7), 104772, 2023 | 1 | 2023 |
| A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81 AS Sarma, B Siddardha, P Ranganath, A Dalal The Journal of Gene Medicine 25 (7), e3501, 2023 | 1 | 2023 |
| DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations. A Lavillaureix, P Rollier, A Kim, V Panasenkava, M De Tayrac, W Carré, ... Genetics in Medicine, 101126, 2024 | | 2024 |
| Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum JRC Priestley, AR Deshwar, H Murthy, MD D’Agostino, L Dupuis, ... Genetics in Medicine 25 (8), 100863, 2023 | | 2023 |
| Abstracts of presentations to the Annual Meetings of the Canadian Society of Colon and Rectal Surgeons Canadian Association of General Surgeons Canadian Society of Surgical … PT Phang, TK Asano, WD Buie, TM Mastracci, BM Taylor, P Johnson, ... Canadian Journal of Surgery 46 (Suppl 2), 2-36, 2003 | | 2003 |
| Abstracts of presentations to the Annual Meetings of the Canadian Society of Colon and Rectal Surgeons Canadian Association of General Surgeons Canadian Association of Thoracic … TK Asano, M Blitz, JFM Oosthuizen, A Ravid, O Al-Obeed, P Colquhoun, ... Canadian Journal of Surgery 45 (Suppl 3), 3-26, 2002 | | 2002 |
| A Novel Loss-of-Function Variant in SETBP1 Causing Autosomal Dominant Mental Retardation 29 in an Asian Indian Male Child AS Sarma, S Wagh, A Dalal, P Ranganath | | |
Ashwin DalalHead, Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, HyderabadVerified email at cdfd.org.in
