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How do members of the public expect to use variants of uncertain significance in their health care? A population-based survey.
Mighton C, Clausen M, Shickh S, Baxter NN, Scheer A, Sebastian A, Muir SM, Kim THM, Glogowski E, Schrader KA, Regier DA, Kim RH, Lerner-Ellis J, Bayoumi AM, Thorpe KE, Bombard Y. Mighton C, et al. Genet Med. 2023 May;25(5):100819. doi: 10.1016/j.gim.2023.100819. Epub 2023 Mar 12. Genet Med. 2023. PMID: 36919843 Free article. Clinical Trial.
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS. Lerner-Ellis JP, et al. Nat Genet. 2006 Jan;38(1):93-100. doi: 10.1038/ng1683. Epub 2005 Nov 27. Nat Genet. 2006. PMID: 16311595
Gene identification for the cblD defect of vitamin B12 metabolism.
Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B. Coelho D, et al. N Engl J Med. 2008 Apr 3;358(14):1454-64. doi: 10.1056/NEJMoa072200. N Engl J Med. 2008. PMID: 18385497 Free article.
104 results