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Page 1
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
Porter KM, Kauffman TL, Koenig BA, Lewis KL, Rehm HL, Richards CS, Strande NT, Tabor HK, Wolf SM, Yang Y, Amendola LM, Azzariti DR, Berg JS, Bergstrom K, Biesecker LG, Biswas S, Bowling KM, Chung WK, Clayton EW, Conlin LK, Cooper GM, Dulik MC, Garraway LA, Ghazani AA, Green RC, Hiatt SM, Jamal SM, Jarvik GP, Goddard KAB, Wilfond BS; members of the CSER Actionability and Return of Results Working Group. Porter KM, et al. Among authors: wilfond bs. Mol Genet Genomic Med. 2018 Nov;6(6):898-909. doi: 10.1002/mgg3.453. Epub 2018 Aug 21. Mol Genet Genomic Med. 2018. PMID: 30133189 Free PMC article.
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
Leo MC, McMullen C, Wilfond BS, Lynch FL, Reiss JA, Gilmore MJ, Himes P, Kauffman TL, Davis JV, Jarvik GP, Berg JS, Harding C, Kennedy KA, Simpson DK, Quigley DI, Richards CS, Rope AF, Goddard KA. Leo MC, et al. Among authors: wilfond bs. Am J Med Genet A. 2016 Mar;170(3):574-82. doi: 10.1002/ajmg.a.37477. Epub 2016 Jan 21. Am J Med Genet A. 2016. PMID: 26792268 Free PMC article.
Generating a taxonomy for genetic conditions relevant to reproductive planning.
Korngiebel DM, McMullen CK, Amendola LM, Berg JS, Davis JV, Gilmore MJ, Harding CO, Himes P, Jarvik GP, Kauffman TL, Kennedy KA, Simpson DK, Leo MC, Lynch FL, Quigley DI, Reiss JA, Richards CS, Rope AF, Schneider JL, Goddard KA, Wilfond BS. Korngiebel DM, et al. Among authors: wilfond bs. Am J Med Genet A. 2016 Mar;170(3):565-73. doi: 10.1002/ajmg.a.37513. Am J Med Genet A. 2016. PMID: 26889673 Free PMC article.
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. Green RC, et al. Among authors: wilfond bs. Am J Hum Genet. 2016 Jun 2;98(6):1051-1066. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181682 Free PMC article.
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA; CSER consortium; Plon SE, Jarvik GP. Amendola LM, et al. Among authors: wilfond bs. Am J Hum Genet. 2018 Sep 6;103(3):319-327. doi: 10.1016/j.ajhg.2018.08.007. Am J Hum Genet. 2018. PMID: 30193136 Free PMC article.
302 results