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Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group.
Pak CM, Gilmore MJ, Bulkley JE, Chakraborty P, Dagan-Rosenfeld O, Foreman AKM, Gollob MH, Jenkins CL, Katz AE, Lee K, Meeks N, O'Daniel JM, Posey JE, Rego SM, Shah N, Steiner RD, Stergachis AB, Subramanian SL, Trotter T, Wallace K, Williams MS, Goddard KAB, Buchanan AH, Manickam K, Powell B, Ezzell Hunter J; ClinGen Resource. Pak CM, et al. Among authors: manickam k. Genet Med. 2024 Aug;26(8):101164. doi: 10.1016/j.gim.2024.101164. Epub 2024 May 14. Genet Med. 2024. PMID: 38757444 Free article.
Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.
Showpnil IA, E Hernandez Gonzalez M, Ramadesikan S, Marhabaie M, Daley A, Dublin-Ryan L, Pastore MT, Gurusamy U, Hunter JM, Stone BS, Bartholomew DW, Manickam K, Miller AR, Wilson RK, Stottmann RW, Koboldt DC. Showpnil IA, et al. Among authors: manickam k. NPJ Genom Med. 2024 Dec 18;9(1):66. doi: 10.1038/s41525-024-00454-4. NPJ Genom Med. 2024. PMID: 39695126 Free PMC article.
Involvement of ObRb receptor, nitric oxide, and BKCa channel signaling pathways in leptin-induced relaxation of pregnant mouse uterus.
Kishor Kumar DG, Pashupathi M, Vaidhya A, Ravi Prakash G, Bramhane A, Panigrahi M, Karikalan M, Lingaraju MC, Manickam K, Singh TU, Parida S. Kishor Kumar DG, et al. Among authors: manickam k. Eur J Pharmacol. 2024 Sep 5;978:176796. doi: 10.1016/j.ejphar.2024.176796. Epub 2024 Jun 28. Eur J Pharmacol. 2024. PMID: 38945286
Experimental safety testing confirms that the NSAID nimesulide is toxic to Gyps vultures in India.
Mathesh K, Manickam K, Mallord JW, Mahendran K, Kumar M A, Saikia D, Mohan S C, V B, Lakshmi P S, Prakash N, Shringarpure R, Pawde AM, Green RE, Naidoo V, Prakash V. Mathesh K, et al. Among authors: manickam k. Environ Toxicol Pharmacol. 2023 Oct;103:104284. doi: 10.1016/j.etap.2023.104284. Epub 2023 Sep 27. Environ Toxicol Pharmacol. 2023. PMID: 37775075
Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.
Mori M, Clause AR, Truxal K, Hagelstrom RT, Manickam K, Kaler SG, Prasad V, Windster J, Alves MM, Di Lorenzo C. Mori M, et al. Among authors: manickam k. JPGN Rep. 2022 Oct 20;3(4):e258. doi: 10.1097/PG9.0000000000000258. eCollection 2022 Nov. JPGN Rep. 2022. PMID: 37168481 Free PMC article.
99 results