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Volumn 316, Issue 7, 2016, Pages 717-719

Where to drawthe boundaries for prenatal carrier screening

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA TELANGIECTASIA; CYSTIC FIBROSIS; DISEASE SEVERITY; DNA SEQUENCE; ETHNICITY; FAMILY HISTORY; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HETEROZYGOTE; HUMAN; MALIGNANT NEOPLASTIC DISEASE; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; REVIEW; X CHROMOSOME RECESSIVE DISORDER; GENETIC SCREENING;

EID: 84984830666     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2016.10888     Document Type: Review
Times cited : (27)

References (12)
  • 1
    • 84987668863 scopus 로고    scopus 로고
    • Modeled fetal risk of genetic diseases identified by expanded carrier screening
    • Haque IS, Lazarin GA, Kang HP, et al. Modeled fetal risk of genetic diseases identified by expanded carrier screening. JAMA. doi:10.1001/jama.2016.11139.
    • JAMA
    • Haque, I.S.1    Lazarin, G.A.2    Kang, H.P.3
  • 2
    • 84918840439 scopus 로고    scopus 로고
    • Clinical exome sequencing for genetic identification of rare Mendelian disorders
    • Lee H, Deignan JL, Dorrani N, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014;312(18):1880-1887.
    • (2014) JAMA , vol.312 , Issue.18 , pp. 1880-1887
    • Lee, H.1    Deignan, J.L.2    Dorrani, N.3
  • 3
    • 84918771753 scopus 로고    scopus 로고
    • Molecular findings among patients referred for clinical whole-exome sequencing
    • Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312(18): 1870-1879.
    • (2014) JAMA , vol.312 , Issue.18 , pp. 1870-1879
    • Yang, Y.1    Muzny, D.M.2    Xia, F.3
  • 4
    • 0035746363 scopus 로고    scopus 로고
    • Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
    • Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, American College of Medical Genetics
    • GrodyWW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ; Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, American College of Medical Genetics. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med. 2001;3(2):149-154.
    • (2001) Genet Med , vol.3 , Issue.2 , pp. 149-154
    • Grody, W.W.1    Cutting, G.R.2    Klinger, K.W.3    Richards, C.S.4    Watson, M.S.5    Desnick, R.J.6
  • 5
    • 38149050660 scopus 로고    scopus 로고
    • Professional Practice and Guidelines Committee. Carrier screening in individuals of Ashkenazi Jewish descent
    • Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee. Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med. 2008;10(1):54-56.
    • (2008) Genet Med , vol.10 , Issue.1 , pp. 54-56
    • Gross, S.J.1    Pletcher, B.A.2    Monaghan, K.G.3
  • 6
    • 77957220436 scopus 로고    scopus 로고
    • Carrier screening for fragile X syndrome
    • American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee opinion No. 469
    • American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee opinion No. 469: carrier screening for fragile X syndrome. Obstet Gynecol. 2010;116(4): 1008-1010.
    • (2010) Obstet Gynecol , vol.116 , Issue.4 , pp. 1008-1010
  • 7
    • 84878831736 scopus 로고    scopus 로고
    • ACMG position statement on prenatal/preconception expanded carrier screening
    • GrodyWW, Thompson BH, Gregg AR, et al. ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med. 2013;15(6):482-483.
    • (2013) Genet Med , vol.15 , Issue.6 , pp. 482-483
    • Grody, W.W.1    Thompson, B.H.2    Gregg, A.R.3
  • 8
    • 36248989104 scopus 로고    scopus 로고
    • The cystic fibrosis mutation arms race": When less is more
    • GrodyWW, Cutting GR,Watson MS. The cystic fibrosis mutation "arms race": when less is more. Genet Med. 2007;9(11):739-744.
    • (2007) Genet Med , vol.9 , Issue.11 , pp. 739-744
    • Grody, W.W.1    Cutting, G.R.2    Watson, M.S.3
  • 9
    • 84862832272 scopus 로고    scopus 로고
    • Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California
    • Gallant NM, Leydiker K, Tang H, et al. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol GenetMetab. 2012;106 (1):55-61.
    • (2012) Mol Genet Metab , vol.106 , Issue.1 , pp. 55-61
    • Gallant, N.M.1    Leydiker, K.2    Tang, H.3
  • 10
    • 82955174751 scopus 로고    scopus 로고
    • Expanded carrier screening and the law of unintended consequences: From cystic fibrosis to fragile X
    • GrodyWW. Expanded carrier screening and the law of unintended consequences: from cystic fibrosis to fragile X. Genet Med. 2011;13(12):996-997.
    • (2011) Genet Med , vol.13 , Issue.12 , pp. 996-997
    • Grody, W.W.1
  • 11
    • 84928209346 scopus 로고    scopus 로고
    • ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    • Richards S, Aziz N, Bale S, et al; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424.
    • (2015) Genet Med , vol.17 , Issue.5 , pp. 405-424
    • Richards, S.1    Aziz, N.2    Bale, S.3
  • 12
    • 84923584486 scopus 로고    scopus 로고
    • Expanded carrier screening in reproductive medicine-points to consider: A joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine
    • Edwards JG, Feldman G, Goldberg J, et al. Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society forMaternal-Fetal Medicine. Obstet Gynecol. 2015;125(3):653-662.
    • (2015) Obstet Gynecol , vol.125 , Issue.3 , pp. 653-662
    • Edwards, J.G.1    Feldman, G.2    Goldberg, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.