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Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.
Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O. Edvardson S, et al. Among authors: prasad an, prasad c. Am J Hum Genet. 2017 Aug 3;101(2):267-273. doi: 10.1016/j.ajhg.2017.07.002. Am J Hum Genet. 2017. PMID: 28777933 Free PMC article.
Genetic evaluation of the floppy infant.
Prasad AN, Prasad C. Prasad AN, et al. Among authors: prasad c. Semin Fetal Neonatal Med. 2011 Apr;16(2):99-108. doi: 10.1016/j.siny.2010.11.002. Epub 2010 Dec 4. Semin Fetal Neonatal Med. 2011. PMID: 21131247 Review.
Pyruvate dehydrogenase deficiency and epilepsy.
Prasad C, Rupar T, Prasad AN. Prasad C, et al. Among authors: prasad an. Brain Dev. 2011 Nov;33(10):856-65. doi: 10.1016/j.braindev.2011.08.003. Epub 2011 Sep 9. Brain Dev. 2011. PMID: 21908116 Review.
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
Saleh M, Colaiacovo S, Napier MP, Prasad AN, Rupar CA, Prasad C. Saleh M, et al. Among authors: prasad an, prasad c. Case Rep Genet. 2022 May 25;2022:9393042. doi: 10.1155/2022/9393042. eCollection 2022. Case Rep Genet. 2022. PMID: 35663206 Free PMC article.
Response to: Letter to the Editor Regarding: The Expanding Phenotype of MELAS Caused by the m.3291 T > C tRNA Mutation E Kelland, C. A. Rupar, Asuri N. Prasad, K. Y. Tay, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2] [1] Krankenanstalt Rudolfstiftung, Vienna [2] Genomics Platform, Pasteur Institute of Tunis, Tunisia.
Kelland E, Rupar CA, Prasad AN, Tay KY, Downie A, Prasad C. Kelland E, et al. Among authors: prasad an, prasad c. Mol Genet Metab Rep. 2016 Jul 15;8:41-2. doi: 10.1016/j.ymgmr.2016.07.002. eCollection 2016 Sep. Mol Genet Metab Rep. 2016. PMID: 27493879 Free PMC article. No abstract available.
849 results