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Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.
Xiao S, Kai Z, Murphy D, Li D, Patel D, Bielowka AM, Bernabeu-Herrero ME, Abdulmogith A, Mumford AD, Westbury SK, Aldred MA, Vargesson N, Caulfield MJ; Genomics England Research Consortium; Shovlin CL. Xiao S, et al. Among authors: shovlin cl. Am J Hum Genet. 2023 Nov 2;110(11):1903-1918. doi: 10.1016/j.ajhg.2023.09.005. Epub 2023 Oct 9. Am J Hum Genet. 2023. PMID: 37816352 Free PMC article.
Hereditary hemorrhagic telangiectasia.
Shovlin CL, Hughes JM. Shovlin CL, et al. N Engl J Med. 1996 Feb 1;334(5):330-1; author reply 331-2. N Engl J Med. 1996. PMID: 8532038 No abstract available.
Adult presentation of adenosine deaminase deficiency.
Shovlin CL, Hughes JM, Simmonds HA, Fairbanks L, Deacock S, Lechler R, Roberts I, Webster AD. Shovlin CL, et al. Lancet. 1993 Jun 5;341(8858):1471. doi: 10.1016/0140-6736(93)90910-9. Lancet. 1993. PMID: 8099155 No abstract available.
Ischemic Stroke and Pulmonary Arteriovenous Malformations: A Review.
Topiwala KK, Patel SD, Saver JL, Streib CD, Shovlin CL. Topiwala KK, et al. Among authors: shovlin cl. Neurology. 2022 Feb 1;98(5):188-198. doi: 10.1212/WNL.0000000000013169. Epub 2021 Dec 8. Neurology. 2022. PMID: 34880092 Free PMC article. Review.
Inherited diseases of the vasculature.
Shovlin CL, Scott J. Shovlin CL, et al. Annu Rev Physiol. 1996;58:483-507. doi: 10.1146/annurev.ph.58.030196.002411. Annu Rev Physiol. 1996. PMID: 8815804 Review.
123 results