| Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome A Shukla, M Hebbar, A Srivastava, R Kadavigere, P Upadhyai, A Kanthi, ... Journal of human genetics 62 (7), 723-727, 2017 | 67 | 2017 |
| Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients A Ganapathy, A Mishra, MR Soni, P Kumar, M Sadagopan, AV Kanthi, ... Journal of Neurology 266, 1919-1926, 2019 | 31 | 2019 |
| A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome M Hebbar, A Kanthi, A Shukla, S Bielas, KM Girisha Journal of human genetics 63 (8), 935-939, 2018 | 15 | 2018 |
| PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families A Guimier, MT Achleitner, A Moreau de Bellaing, M Edwards, ... Genetics in Medicine 23 (12), 2415-2425, 2021 | 13 | 2021 |
| Bi-allelic c. 181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome A Kanthi, M Hebbar, SL Bielas, KM Girisha, A Shukla European journal of medical genetics 62 (6), 103528, 2019 | 9 | 2019 |
| p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi–Goutières syndrome M Hebbar, A Kanthi, A Shrikiran, S Patil, M Muranjan, F Francis, V Bhat B, ... American Journal of Medical Genetics Part A 176 (1), 156-160, 2018 | 7 | 2018 |
| PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families A Guimier, MT Achleitner, AM de Bellaing, M Edwards, L de Pontual, ... Genetics in Medicine 24 (4), 967, 2022 | 1 | 2022 |
