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A case for expanding carrier testing to include actionable X-linked disorders.
Rope AF, Kauffman TL, Himes P, Amendola LM, Punj S, Akkari Y, Potter A, Davis JV, Schneider JL, Reiss JA, Gilmore MJ, McMullen CK, Nickerson DA, Richards CS, Jarvik GP, Wilfond BS, Goddard KAB. Rope AF, et al. Among authors: mcmullen ck. Clin Case Rep. 2018 Sep 19;6(11):2092-2095. doi: 10.1002/ccr3.1806. eCollection 2018 Nov. Clin Case Rep. 2018. PMID: 30455898 Free PMC article.
Biobank Recruitment: Motivations for Nonparticipation.
Goddard KA, Smith KS, Chen C, McMullen C, Johnson C. Goddard KA, et al. Biopreserv Biobank. 2009 Jun;7(2):119-121. doi: 10.1089/bio.2009.0006. Biopreserv Biobank. 2009. PMID: 22087353 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. 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: mcmullen ck. 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. 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.
127 results