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Page 1
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
Ganapathy A, Mishra A, Soni MR, Kumar P, Sadagopan M, Kanthi AV, Patric IRP, George S, Sridharan A, Thyagarajan TC, Aswathy SL, Vidya HK, Chinnappa SM, Nayanala S, Prakash MB, Raghavendrachar VG, Parulekar M, Gowda VK, Nampoothiri S, Menon RN, Pachat D, Udani V, Naik N, Kamate M, Devi ARR, Mohammed Kunju PA, Nair M, Hegde AU, Kumar MP, Sundaram S, Tilak P, Puri RD, Shah K, Sheth J, Hasan Q, Sheth F, Agrawal P, Katragadda S, Veeramachaneni V, Chandru V, Hariharan R, Mannan AU. Ganapathy A, et al. Among authors: pachat d. J Neurol. 2019 Aug;266(8):1919-1926. doi: 10.1007/s00415-019-09358-1. Epub 2019 May 8. J Neurol. 2019. PMID: 31069529
Thiamine-responsive megaloblastic anaemia.
Veetil VM, Pachat D, Nikitha K, Kutty JM. Veetil VM, et al. Among authors: pachat d. Natl Med J India. 2023 Sep-Oct;36(5):314-315. doi: 10.25259/NMJI_20_21. Natl Med J India. 2023. PMID: 38759983
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, Bauer P, Zifarelli G, Houlden H, Daana M, Elpeleg O, Amiel J, Lyonnet S, Gordon CT, Harel T, Õunap K, Salton M, Mor-Shaked H. Engal E, et al. Among authors: pachat d. Am J Hum Genet. 2023 Dec 7;110(12):2112-2119. doi: 10.1016/j.ajhg.2023.10.013. Epub 2023 Nov 13. Am J Hum Genet. 2023. PMID: 37963460 Free PMC article.
Infantile nephrocalcinosis with chronic diarrhea.
Rahman RK, Raghavan VV, Pachat D. Rahman RK, et al. Among authors: pachat d. Pediatr Nephrol. 2025 Apr;40(4):951-953. doi: 10.1007/s00467-024-06614-z. Epub 2024 Dec 2. Pediatr Nephrol. 2025. PMID: 39621115
Nasu-Hakola Disease - A Rare Type of Presenile Dementia.
Krishnadas NC, Abdulla MC, Pachat D. Krishnadas NC, et al. Among authors: pachat d. Ann Indian Acad Neurol. 2022 Jul-Aug;25(4):771-772. doi: 10.4103/aian.aian_1059_21. Epub 2022 May 5. Ann Indian Acad Neurol. 2022. PMID: 36211168 Free PMC article. No abstract available.
16 results