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Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, Robinson PN, Rath A, Sant DW, Stark Z, Whiffin N, Rehm HL, Ware JS. Roberts AM, et al. Among authors: amberger j. Genet Med. 2024 Feb;26(2):101029. doi: 10.1016/j.gim.2023.101029. Epub 2023 Nov 17. Genet Med. 2024. PMID: 37982373 Free PMC article.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
DiStefano MT, Goehringer S, Babb L, Alkuraya FS, Amberger J, Amin M, Austin-Tse C, Balzotti M, Berg JS, Birney E, Bocchini C, Bruford EA, Coffey AJ, Collins H, Cunningham F, Daugherty LC, Einhorn Y, Firth HV, Fitzpatrick DR, Foulger RE, Goldstein J, Hamosh A, Hurles MR, Leigh SE, Leong IUS, Maddirevula S, Martin CL, McDonagh EM, Olry A, Puzriakova A, Radtke K, Ramos EM, Rath A, Riggs ER, Roberts AM, Rodwell C, Snow C, Stark Z, Tahiliani J, Tweedie S, Ware JS, Weller P, Williams E, Wright CF, Yates TM, Rehm HL. DiStefano MT, et al. Among authors: amberger j. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4. Genet Med. 2022. PMID: 35507016 Free PMC article.
McKusick's Online Mendelian Inheritance in Man (OMIM).
Amberger J, Bocchini CA, Scott AF, Hamosh A. Amberger J, et al. Nucleic Acids Res. 2009 Jan;37(Database issue):D793-6. doi: 10.1093/nar/gkn665. Epub 2008 Oct 8. Nucleic Acids Res. 2009. PMID: 18842627 Free PMC article.
Viewing Victor McKusick's legacy through the lens of his bibliography.
Rasmussen SA, Pomputius A, Amberger JS, Hamosh A. Rasmussen SA, et al. Among authors: amberger js. Am J Med Genet A. 2021 Nov;185(11):3212-3223. doi: 10.1002/ajmg.a.62394. Epub 2021 Jun 23. Am J Med Genet A. 2021. PMID: 34159717 Free PMC article.
Response to Biesecker et al.
Hamosh A, Amberger JS, Bocchini CA, Bodurtha J, Bult CJ, Chute CG, Cutting GR, Dietz HC, Firth HV, Gibbs RA, Grody WW, Haendel MA, Lupski JR, Posey JE, Robinson PN, Schriml LM, Scott AF, Sobreira NL, Valle D, Wu N, Rasmussen SA. Hamosh A, et al. Among authors: amberger js. Am J Hum Genet. 2021 Sep 2;108(9):1807-1808. doi: 10.1016/j.ajhg.2021.07.004. Am J Hum Genet. 2021. PMID: 34478655 Free PMC article. No abstract available.
26 results