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The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA, Zhang X, Theotokis P, Thomson K, Harper A, Buchan RJ, Mazaika E, Ormondroyd E, Wright WT, Macaya D, Pua CJ, Funke B, MacArthur DG, Prasad SK, Cook SA, Allouba M, Aguib Y, Yacoub MH, O'Regan DP, Barton PJR, Watkins H, Bottolo L, Ware JS. McGurk KA, et al. Among authors: harper a. Am J Hum Genet. 2023 Sep 7;110(9):1482-1495. doi: 10.1016/j.ajhg.2023.08.003. Epub 2023 Aug 30. Am J Hum Genet. 2023. PMID: 37652022 Free PMC article.
Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank.
Nag A, Dhindsa RS, Middleton L, Jiang X, Vitsios D, Wigmore E, Allman EL, Reznichenko A, Carss K, Smith KR, Wang Q, Challis B, Paul DS, Harper AR, Petrovski S. Nag A, et al. Among authors: harper ar. Am J Hum Genet. 2023 Mar 2;110(3):487-498. doi: 10.1016/j.ajhg.2023.02.002. Epub 2023 Feb 20. Am J Hum Genet. 2023. PMID: 36809768 Free PMC article.
Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes.
Nag A, Dhindsa RS, Mitchell J, Vasavda C, Harper AR, Vitsios D, Ahnmark A, Bilican B, Madeyski-Bengtson K, Zarrouki B, Zoghbi AW, Wang Q, Smith KR, Alegre-Díaz J, Kuri-Morales P, Berumen J, Tapia-Conyer R, Emberson J, Torres JM, Collins R, Smith DM, Challis B, Paul DS, Bohlooly-Y M, Snowden M, Baker D, Fritsche-Danielson R, Pangalos MN, Petrovski S. Nag A, et al. Among authors: harper ar. Sci Adv. 2022 Nov 18;8(46):eadd5430. doi: 10.1126/sciadv.add5430. Epub 2022 Nov 16. Sci Adv. 2022. PMID: 36383675 Free PMC article.
Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W, Schofield PN, Maher ER. Engel JR, et al. Among authors: harper a. J Med Genet. 2000 Dec;37(12):921-6. doi: 10.1136/jmg.37.12.921. J Med Genet. 2000. PMID: 11106355 Free PMC article.
1,342 results