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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: gear r. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).
Nisselle A, Janinski M, Martyn M, McClaren B, Kaunein N; Reporting Item Standards for Education and its Evaluation in Genomics Expert Group; Barlow-Stewart K, Belcher A, Bernat JA, Best S, Bishop M, Carroll JC, Cornel M, Dissanayake VHW, Dodds A, Dunlop K, Garg G, Gear R, Graves D, Knight K, Korf B, Kumar D, Laurino M, Ma A, Maguire J, Mallett A, McCarthy M, McEwen A, Mulder N, Patel C, Quinlan C, Reed K, Riggs ER, Sinnerbrink I, Slavotinek A, Suppiah V, Terrill B, Tobias ES, Tonkin E, Trumble S, Wessels TM, Metcalfe S, Jordan H, Gaff C. Nisselle A, et al. Among authors: gear r. Genet Med. 2021 Jul;23(7):1356-1365. doi: 10.1038/s41436-021-01140-x. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824503 Free article.
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
Van Bergen NJ, Bell KM, Carey K, Gear R, Massey S, Murrell EK, Gallacher L, Pope K, Lockhart PJ, Kornberg A, Pais L, Walkiewicz M, Simons C; MCRI Rare Diseases Flagship; Wickramasinghe VO, White SM, Christodoulou J. Van Bergen NJ, et al. Among authors: gear r. Hum Mol Genet. 2022 Feb 3;31(3):362-375. doi: 10.1093/hmg/ddab248. Hum Mol Genet. 2022. PMID: 34494102 Free PMC article.
Osteopathia Striata with Cranial Sclerosis.
Gear R, Savarirayan R. Gear R, et al. 2021 Apr 15 [updated 2023 Mar 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2021 Apr 15 [updated 2023 Mar 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 33856753 Free Books & Documents. Review.
Gestational high-fat diet and bisphenol A exposure heightens mammary cancer risk.
Leung YK, Govindarajah V, Cheong A, Veevers J, Song D, Gear R, Zhu X, Ying J, Kendler A, Medvedovic M, Belcher S, Ho SM. Leung YK, et al. Among authors: gear r. Endocr Relat Cancer. 2017 Jul;24(7):365-378. doi: 10.1530/ERC-17-0006. Epub 2017 May 9. Endocr Relat Cancer. 2017. PMID: 28487351 Free PMC article.
92 results