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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Amendola LM, et al. Among authors: richards cs. Am J Hum Genet. 2016 Jun 2;98(6):1067-1076. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181684 Free PMC article.
Screening for 185delAG in the Ashkenazim.
Richards CS, Ward PA, Roa BB, Friedman LC, Boyd AA, Kuenzli G, Dunn JK, Plon SE. Richards CS, et al. Am J Hum Genet. 1997 May;60(5):1085-98. Am J Hum Genet. 1997. PMID: 9150156 Free PMC article.
A homozygous mutation in MSH6 causes Turcot syndrome.
Hegde MR, Chong B, Blazo ME, Chin LH, Ward PA, Chintagumpala MM, Kim JY, Plon SE, Richards CS. Hegde MR, et al. Among authors: richards cs. Clin Cancer Res. 2005 Jul 1;11(13):4689-93. doi: 10.1158/1078-0432.CCR-04-2025. Clin Cancer Res. 2005. PMID: 16000562
Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes?
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group; Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group, et al. Genet Med. 2013 Aug;15(8):612-7. doi: 10.1038/gim.2013.9. Epub 2013 Mar 14. Genet Med. 2013. PMID: 23492873 Free article.
The EGAPP initiative: lessons learned.
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Genet Med. 2014 Mar;16(3):217-24. doi: 10.1038/gim.2013.110. Epub 2013 Aug 8. Genet Med. 2014. PMID: 23928914 Free article. Review.
209 results