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Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.
O'Brien TD, Potter AB, Driscoll CC, Goh G, Letaw JH, McCabe S, Thanner J, Kulkarni A, Wong R, Medica S, Week T, Buitrago J, Larson A, Camacho KJ, Brown K, Crist R, Conrad C, Evans-Dutson S, Lutz R, Mitchell A, Anur P, Serrato V, Shafer A, Marriott LK, Hamman KJ, Mulford A, Wiszniewski W, Sampson JE, Adey A, O'Roak BJ, Harrington CA, Shannon J, Spellman PT, Richards CS. O'Brien TD, et al. Among authors: richards cs. Am J Hum Genet. 2023 Aug 3;110(8):1249-1265. doi: 10.1016/j.ajhg.2023.06.014. Epub 2023 Jul 27. Am J Hum Genet. 2023. PMID: 37506692 Free PMC article.
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
Punj S, Akkari Y, Huang J, Yang F, Creason A, Pak C, Potter A, Dorschner MO, Nickerson DA, Robertson PD, Jarvik GP, Amendola LM, Schleit J, Simpson DK, Rope AF, Reiss J, Kauffman T, Gilmore MJ, Himes P, Wilfond B, Goddard KAB, Richards CS. Punj S, et al. Among authors: richards cs. Am J Hum Genet. 2018 Jun 7;102(6):1078-1089. doi: 10.1016/j.ajhg.2018.04.004. Epub 2018 May 10. Am J Hum Genet. 2018. PMID: 29754767 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.
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.
209 results