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Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.
Walker LC, Whiley PJ, Houdayer C, Hansen TV, Vega A, Santamarina M, Blanco A, Fachal L, Southey MC, Lafferty A, Colombo M, De Vecchi G, Radice P, Spurdle AB; ENIGMA consortium. Walker LC, et al. Among authors: lafferty a. Hum Mutat. 2013 Oct;34(10):1424-31. doi: 10.1002/humu.22388. Epub 2013 Aug 13. Hum Mutat. 2013. PMID: 23893897
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA. Spurdle AB, et al. Hum Mutat. 2012 Jan;33(1):2-7. doi: 10.1002/humu.21628. Epub 2011 Nov 3. Hum Mutat. 2012. PMID: 21990146 Free PMC article.
Evaluation of Mpox Exposures and Outcomes in Workplaces, 6 Jurisdictions, June 1-August 31, 2022.
de Perio MA, Horter L, Still W, Meh I, Persson N, Berns AL, Salinas A, Murphy K, Lafferty AG, Daltry D, Mackey S, Sockwell DC, Adams J, Rivas J, Somerville NJ, Valencia D. de Perio MA, et al. Among authors: lafferty ag. Public Health Rep. 2024 May 24:333549241245655. doi: 10.1177/00333549241245655. Online ahead of print. Public Health Rep. 2024. PMID: 38785340
Demographic, Clinical, Management, and Outcome Characteristics of 8,004 Young Children With Type 1 Diabetes.
Sandy JL, Tittel SR, Rompicherla S, Karges B, James S, Rioles N, Zimmerman AG, Fröhlich-Reiterer E, Maahs DM, Lanzinger S, Craig ME, Ebekozien O; Australasian Diabetes Data Network (ADDN); T1D Exchanged Quality Improvement Collaborative (T1DX-QI); Prospective Diabetes Follow-Up Registry Initiative (DPV). Sandy JL, et al. Diabetes Care. 2024 Apr 1;47(4):660-667. doi: 10.2337/dc23-1317. Diabetes Care. 2024. PMID: 38305782
81 results