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Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Ellingford JM, et al. Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3. Genome Med. 2022. PMID: 35850704 Free PMC article.
Genetic testing in early-onset atrial fibrillation.
Kany S, Jurgens SJ, Rämö JT, Christophersen IE, Rienstra M, Chung MK, Olesen MS, Ackerman MJ, McNally EM, Semsarian C, Schnabel RB, Wilde AAM, Benjamin EJ, Rehm HL, Kirchhof P, Bezzina CR, Roden DM, Shoemaker MB, Ellinor PT. Kany S, et al. Eur Heart J. 2024 Sep 7;45(34):3111-3123. doi: 10.1093/eurheartj/ehae298. Eur Heart J. 2024. PMID: 39028637 Review.
The Brain Gene Registry: a data snapshot.
Baldridge D, Kaster L, Sancimino C, Srivastava S, Molholm S, Gupta A, Oh I, Lanzotti V, Grewal D, Riggs ER, Savatt JM, Hauck R, Sveden A; Brain Gene Registry Consortium; Constantino JN, Piven J, Gurnett CA, Chopra M, Hazlett H, Payne PRO. Baldridge D, et al. J Neurodev Disord. 2024 Apr 17;16(1):17. doi: 10.1186/s11689-024-09530-3. J Neurodev Disord. 2024. PMID: 38632549 Free PMC article.