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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.
Profile of 208 patients with inborn errors of immunity at a tertiary care center in South India.
Bhattad S, Mohite RS, Singh N, Kotecha U, Jhawar P, Ramprakash S, Commondoor R, Jayaram A, Rayabarapu P, Kumar H, Unni J, Cyril G, Kumar S, Pachat D, Jakka S, Makam A, Porta F, Ginigeri C. Bhattad S, et al. Among authors: pachat d. Clin Exp Med. 2023 Dec;23(8):5399-5412. doi: 10.1007/s10238-023-01225-8. Epub 2023 Oct 28. Clin Exp Med. 2023. PMID: 37898571
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Mor E, Tzvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Jeong WC, Lee H, Bauer P, Zifarelli G, Houlden H, Elpeleg O, Gordon C, Harel T, Õunap K, Salton M, Mor-Shaked H. Engal E, et al. Among authors: pachat d. medRxiv [Preprint]. 2023 Jun 27:2023.06.19.23291425. doi: 10.1101/2023.06.19.23291425. medRxiv. 2023. Update in: Am J Hum Genet. 2023 Dec 7;110(12):2112-2119. doi: 10.1016/j.ajhg.2023.10.013. PMID: 37425688 Free PMC article. Updated. Preprint.
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.
Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.
Ravichandran L, Korula S, Asha HS, Varghese D, Parthiban R, Johnson J, Ishwarya J, Shetty S, Cherian KE, Jebasingh F, Kapoor N, Pachat D, Mathai S, Simon A, Rajaratnam S, Paul TV, Thomas N, Chapla A. Ravichandran L, et al. Among authors: pachat d. Eur J Med Genet. 2021 Dec;64(12):104369. doi: 10.1016/j.ejmg.2021.104369. Epub 2021 Oct 27. Eur J Med Genet. 2021. PMID: 34718183
Genomics of rare genetic diseases-experiences from India.
GUaRDIAN Consortium; Sivasubbu S, Scaria V. GUaRDIAN Consortium, et al. Hum Genomics. 2019 Sep 25;14(1):52. doi: 10.1186/s40246-019-0215-5. Hum Genomics. 2019. PMID: 31554517 Free PMC article. Review.
13 results