-
1
-
-
84987668863
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
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