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Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, Robinson PN, Rath A, Sant DW, Stark Z, Whiffin N, Rehm HL, Ware JS. Roberts AM, et al. Among authors: foreman j. Genet Med. 2024 Feb;26(2):101029. doi: 10.1016/j.gim.2023.101029. Epub 2023 Nov 17. Genet Med. 2024. PMID: 37982373 Free PMC article.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. Among authors: foreman j. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, Robinson PN, Rath A, van Sant D, Stark Z, Whiffin N, Rehm HL, Ware JS. Roberts AM, et al. Among authors: foreman j. medRxiv [Preprint]. 2023 Apr 3:2023.03.30.23287948. doi: 10.1101/2023.03.30.23287948. medRxiv. 2023. Update in: Genet Med. 2024 Feb;26(2):101029. doi: 10.1016/j.gim.2023.101029. PMID: 37066232 Free PMC article. Updated. Preprint.
Mapping MAVE data for use in human genomics applications.
Arbesfeld JA, Da EY, Stevenson JS, Kuzma K, Paul A, Farris T, Capodanno BJ, Grindstaff SB, Riehle K, Saraiva-Agostinho N, Safer JF, Milosavljevic A, Foreman J, Firth HV, Hunt SE, Iqbal S, Cline MS, Rubin AF, Wagner AH. Arbesfeld JA, et al. Among authors: foreman j. bioRxiv [Preprint]. 2024 Jun 30:2023.06.20.545702. doi: 10.1101/2023.06.20.545702. bioRxiv. 2024. PMID: 38979347 Free PMC article. Preprint.
A Qualitative Study of the Knowledge of Metabolic Syndrome, Attitudes about Lifestyle Modifications, and Preferences for Lifestyle Interventions among Patients with Cancer and Metabolic Syndrome.
Martinez Leal I, Pillai AB, Foreman JT, Siu KW, Heredia NI, Escalante CP, Manzullo EF, Christie AJ, Lacourt TE, Razouki ZA, Hwang JP. Martinez Leal I, et al. Among authors: foreman jt. Cancers (Basel). 2024 Sep 13;16(18):3147. doi: 10.3390/cancers16183147. Cancers (Basel). 2024. PMID: 39335119 Free PMC article.
Edetate Disodium-Based Chelation for Patients With a Previous Myocardial Infarction and Diabetes: TACT2 Randomized Clinical Trial.
Lamas GA, Anstrom KJ, Navas-Acien A, Boineau R, Nemeth H, Huang Z, Wen J, Rosenberg Y, Stylianou M, Jones TLZ, Joubert BR, Yu Q, Santella RM, Mon AC, Ujueta F, Escolar E, Nathan DM, Fonseca VA, Aude YW, Ehrman JK, Elliott T, Prashad R, Lewis EF, Lopes RD, Farkouh ME, Elliott AM, Newman JD, Mark DB; TACT2 Investigators. Lamas GA, et al. JAMA. 2024 Sep 10;332(10):794-803. doi: 10.1001/jama.2024.11463. JAMA. 2024. PMID: 39141382 Clinical Trial.
624 results