-
2
-
-
0034434840
-
Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model
-
Kaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur J Pediatr 2000;159(Suppl 3):S192-5.
-
(2000)
Eur J Pediatr
, vol.159
, Issue.SUPPL 3
, pp. S192-S195
-
-
Kaback, M.M.1
-
3
-
-
79953212970
-
ACOG Committee Opinion No. 486: update on carrier screening for cystic fibrosis
-
American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion No. 486: update on carrier screening for cystic fibrosis. Obstet Gynecol 2011;117(4):1028-31.
-
(2011)
Obstet Gynecol
, vol.117
, Issue.4
, pp. 1028-1031
-
-
-
4
-
-
4644361735
-
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
-
Watson MS, Cutting GR, Desnick RJ, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004;6(5):387-91.
-
(2004)
Genet Med
, vol.6
, Issue.5
, pp. 387-391
-
-
Watson, M.S.1
Cutting, G.R.2
Desnick, R.J.3
-
5
-
-
38149050660
-
Carrier screening in individuals of Ashkenazi Jewish descent
-
Gross SJ, Pletcher BA, Monaghan KG, et al. Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med 2008;10(1):54-6.
-
(2008)
Genet Med
, vol.10
, Issue.1
, pp. 54-56
-
-
Gross, S.J.1
Pletcher, B.A.2
Monaghan, K.G.3
-
6
-
-
70349678533
-
ACOG committee opinion no. 442: preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent
-
American College of Obstetricians and Gynecologists Committee on Genetics. ACOG committee opinion no. 442: preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol 2009;114(4):950-3.
-
(2009)
Obstet Gynecol
, vol.114
, Issue.4
, pp. 950-953
-
-
-
7
-
-
25444475584
-
ACOG committee opinion no. 318: screening for Tay-Sachs disease
-
American College of Obstetricians and Gynecologists Committee on Genetics. ACOG committee opinion no. 318: screening for Tay-Sachs disease. Obstet Gynecol 2005;106(4):893-4.
-
(2005)
Obstet Gynecol
, vol.106
, Issue.4
, pp. 893-894
-
-
-
8
-
-
33845954371
-
ACOG practice bulletin no. 78: hemoglobinopathies in pregnancy
-
American College of Obstetricians and Gynecologists. ACOG practice bulletin no. 78: hemoglobinopathies in pregnancy. Obstet Gynecol 2007;109(1):229-37.
-
(2007)
Obstet Gynecol
, vol.109
, Issue.1
, pp. 229-237
-
-
-
9
-
-
79960834390
-
Technical standards and guidelines for spinal muscular atrophy testing
-
Prior TW, Nagan N, Sugarman EA, et al. Technical standards and guidelines for spinal muscular atrophy testing. Genet Med 2011;13(7):686-94.
-
(2011)
Genet Med
, vol.13
, Issue.7
, pp. 686-694
-
-
Prior, T.W.1
Nagan, N.2
Sugarman, E.A.3
-
10
-
-
77958157320
-
ACOG committee opinion no. 469: carrier screening for fragile X syndrome
-
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):1008-10.
-
(2010)
Obstet Gynecol
, vol.116
, Issue.4
, pp. 1008-1010
-
-
-
11
-
-
27644507366
-
Fragile X syndrome: diagnostic and carrier testing
-
Sherman S, Pletcher BA, Driscoll DA. Fragile X syndrome: diagnostic and carrier testing. Genet Med 2005;7(8):584-7.
-
(2005)
Genet Med
, vol.7
, Issue.8
, pp. 584-587
-
-
Sherman, S.1
Pletcher, B.A.2
Driscoll, D.A.3
-
12
-
-
84943242656
-
Cystic fibrosis population screening position paper
-
[cited May 5].
-
Human Genetics Society of Australasia. Cystic fibrosis population screening position paper [cited 2015 May 5]. Available from: https://www.hgsa.org.au/documents/item/1282.
-
(2015)
-
-
-
13
-
-
0036673724
-
Cystic fibrosis carrier testing in pregnancy in Canada
-
Wilson RD, Davies G, Desilets V, et al. Cystic fibrosis carrier testing in pregnancy in Canada. J Obstet Gynaecol Can 2002;24(8):644-51.
-
(2002)
J Obstet Gynaecol Can
, vol.24
, Issue.8
, pp. 644-651
-
-
Wilson, R.D.1
Davies, G.2
Desilets, V.3
-
14
-
-
84943244053
-
Cystic fibrosis screening in pregnancy
-
[cited May 5].
-
UK National Screening Committee. Cystic fibrosis screening in pregnancy [cited 2015 May 5]. Available from: http://www.screening.nhs.uk/cysticfibrosis-pregnancy.
-
(2015)
-
-
-
15
-
-
41849141849
-
Amniocentesis
-
Evans MI (eds). New York: McGraw-Hill Medical Pub. Division.
-
Drugan A, Evans M. Amniocentesis. In Prenatal Diagnosis, Evans MI (eds). New York: McGraw-Hill Medical Pub. Division. 2006;415-9.
-
(2006)
Prenatal Diagnosis
, pp. 415-419
-
-
Drugan, A.1
Evans, M.2
-
16
-
-
77449084881
-
Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis
-
Park NJ, Morgan C, Sharma R, et al. Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. Pediatr Res 2010;67(2):217-20.
-
(2010)
Pediatr Res
, vol.67
, Issue.2
, pp. 217-220
-
-
Park, N.J.1
Morgan, C.2
Sharma, R.3
-
17
-
-
0142063077
-
Informed lay preferences for delivery of racially varied pharmacogenomics
-
Bevan JL, Lynch JA, Dubriwny TN, et al. Informed lay preferences for delivery of racially varied pharmacogenomics. Genet Med 2003;5(5): 393-9.
-
(2003)
Genet Med
, vol.5
, Issue.5
, pp. 393-399
-
-
Bevan, J.L.1
Lynch, J.A.2
Dubriwny, T.N.3
-
18
-
-
84255188972
-
A re-examination of the use of ethnicity in prenatal carrier testing
-
Ross LF. A re-examination of the use of ethnicity in prenatal carrier testing. Am J Med Genet A 2012;158A(1):19-23.
-
(2012)
Am J Med Genet A
, vol.158A
, Issue.1
, pp. 19-23
-
-
Ross, L.F.1
-
19
-
-
79954993710
-
for the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Secretary's Advisory Committee on Heritable Disorders in Newborns and Children response to the President's Council on Bioethics report: the changing moral focus of newborn screening
-
Trotter TL, Fleischman AR, Howell RR, Lloyd-Puryear M. for the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Secretary's Advisory Committee on Heritable Disorders in Newborns and Children response to the President's Council on Bioethics report: the changing moral focus of newborn screening. Genet Med 2011;13(4):301-4.
-
(2011)
Genet Med
, vol.13
, Issue.4
, pp. 301-304
-
-
Trotter, T.L.1
Fleischman, A.R.2
Howell, R.R.3
Lloyd-Puryear, M.4
-
20
-
-
84875178813
-
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals
-
Lazarin GA, Haque IS, Nazareth S, et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23, 453 individuals. Genet Med. 2013;15(3):178-86.
-
(2013)
Genet Med
, vol.15
, Issue.3
, pp. 178-186
-
-
Lazarin, G.A.1
Haque, I.S.2
Nazareth, S.3
-
21
-
-
78651393550
-
Carrier testing for severe childhood recessive diseases by next-generation sequencing
-
65ra4
-
Bell CJ, Dinwiddie DL, Miller NA, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011;3(65):65ra4.
-
(2011)
Sci Transl Med
, vol.3
, Issue.65
-
-
Bell, C.J.1
Dinwiddie, D.L.2
Miller, N.A.3
-
22
-
-
84894063593
-
Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing
-
Hallam S, Nelson H, Greger V, et al. Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing. J Mol Diagn 2014;16(2):180-9.
-
(2014)
J Mol Diagn
, vol.16
, Issue.2
, pp. 180-189
-
-
Hallam, S.1
Nelson, H.2
Greger, V.3
-
23
-
-
84908299843
-
Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening
-
Hoffman JD, Greger V, Strovel ET, et al. Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening. Mol Genet Genomic Med. 2013;1(4):260-8.
-
(2013)
Mol Genet Genomic Med
, vol.1
, Issue.4
, pp. 260-268
-
-
Hoffman, J.D.1
Greger, V.2
Strovel, E.T.3
-
24
-
-
78049300625
-
A universal carrier test for the long tail of Mendelian disease
-
Srinivasan BS, Evans EA, Flannick J, et al. A universal carrier test for the long tail of Mendelian disease. Reprod Biomed Online 2010;21(4): 537-51.
-
(2010)
Reprod Biomed Online
, vol.21
, Issue.4
, pp. 537-551
-
-
Srinivasan, B.S.1
Evans, E.A.2
Flannick, J.3
-
25
-
-
84916608586
-
Systematic classification of disease severity for evaluation of expanded carrier screening panels
-
e114391.
-
Lazarin GA, Hawthorne F, Collins NS, et al. Systematic classification of disease severity for evaluation of expanded carrier screening panels. PLoS One 2014;9(12):e114391.
-
(2014)
PLoS One
, vol.9
, Issue.12
-
-
Lazarin, G.A.1
Hawthorne, F.2
Collins, N.S.3
-
26
-
-
0027360434
-
Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network
-
Kaback M, Lim-Steele J, Dabholkar D, et al. Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA 1993;270(19):2307-15.
-
(1993)
JAMA
, vol.270
, Issue.19
, pp. 2307-2315
-
-
Kaback, M.1
Lim-Steele, J.2
Dabholkar, D.3
-
27
-
-
84943281772
-
JDGC Launches Rabbi Education Program
-
[cited 5/5].
-
Jewish Genetic Disease Consortium. JDGC Launches Rabbi Education Program [cited 2015 5/5]. Available from: http://www.jewishgeneticdiseases.org/jgdc-launches-rabbi-education-program-couples-aware/.
-
(2015)
-
-
-
28
-
-
78049440186
-
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases
-
Scott SA, Edelmann L, Liu L, et al. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat 2010;31(11):1240-50.
-
(2010)
Hum Mutat
, vol.31
, Issue.11
, pp. 1240-1250
-
-
Scott, S.A.1
Edelmann, L.2
Liu, L.3
-
29
-
-
84918567203
-
Trends in office-based care for reproductive-aged women according to physician specialty: a ten-year study
-
Petterson SM, Bazemore AW, Phillips RL, Rayburn WF. Trends in office-based care for reproductive-aged women according to physician specialty: a ten-year study. J Women's Health 2014;23(12):1021-6.
-
(2014)
J Women's Health
, vol.23
, Issue.12
, pp. 1021-1026
-
-
Petterson, S.M.1
Bazemore, A.W.2
Phillips, R.L.3
Rayburn, W.F.4
-
30
-
-
79954441741
-
Committee opinion no. 478: family history as a risk assessment tool
-
American College of Obstetricians and Gynecologists Committee on Genetics. Committee opinion no. 478: family history as a risk assessment tool. Obstet Gynecol 2011;117(3):747-50.
-
(2011)
Obstet Gynecol
, vol.117
, Issue.3
, pp. 747-750
-
-
-
31
-
-
81355160534
-
Committee opinion no. 483: primary and preventive care: periodic assessments
-
American College of Obstetricians and Gynecologists Committee on Gynecologic Practice. Committee opinion no. 483: primary and preventive care: periodic assessments. Obstet Gynecol 2011;117(4): 1008-15.
-
(2011)
Obstet Gynecol
, vol.117
, Issue.4
, pp. 1008-1015
-
-
-
32
-
-
77952101271
-
Challenges in the clinical application of whole-genome sequencing
-
Ormond KE, Wheeler MT, Hudgins L, et al. Challenges in the clinical application of whole-genome sequencing. Lancet 2010;375(9727):1749-51.
-
(2010)
Lancet
, vol.375
, Issue.9727
, pp. 1749-1751
-
-
Ormond, K.E.1
Wheeler, M.T.2
Hudgins, L.3
-
33
-
-
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 for Maternal-Fetal Medicine. Obstet Gynecol 2015;125(3):653-62.
-
(2015)
Obstet Gynecol
, vol.125
, Issue.3
, pp. 653-662
-
-
Edwards, J.G.1
Feldman, G.2
Goldberg, J.3
-
34
-
-
79952150261
-
Looking ahead, looking behind
-
Evans JP. Looking ahead, looking behind. Introd Genet Med 2011;13(3): 177-8.
-
(2011)
Introd Genet Med
, vol.13
, Issue.3
, pp. 177-178
-
-
Evans, J.P.1
-
35
-
-
79960440900
-
Cystic fibrosis carrier screening in obstetric clinical practice: knowledge, practices, and barriers, a decade after publication of screening guidelines
-
Darcy D, Tian L, Taylor J, Schrijver I. Cystic fibrosis carrier screening in obstetric clinical practice: knowledge, practices, and barriers, a decade after publication of screening guidelines. Genet Test Mol Biomarkers 2011;15(7-8):517-23.
-
(2011)
Genet Test Mol Biomarkers
, vol.15
, Issue.7-8
, pp. 517-523
-
-
Darcy, D.1
Tian, L.2
Taylor, J.3
Schrijver, I.4
-
36
-
-
79952153658
-
Can we make assumptions about the psychosocial impact of living as a carrier, based on studies assessing the effects of carrier testing?
-
Lewis C, Skirton H, Jones R. Can we make assumptions about the psychosocial impact of living as a carrier, based on studies assessing the effects of carrier testing? J Genet Couns 2011;20(1):80-97.
-
(2011)
J Genet Couns
, vol.20
, Issue.1
, pp. 80-97
-
-
Lewis, C.1
Skirton, H.2
Jones, R.3
-
37
-
-
67650925282
-
Disclosure of APOE genotype for risk of Alzheimer's disease
-
Green RC, Roberts JS, Cupples LA, et al. Disclosure of APOE genotype for risk of Alzheimer's disease. N Engl J Med 2009;361(3):245-54.
-
(2009)
N Engl J Med
, vol.361
, Issue.3
, pp. 245-254
-
-
Green, R.C.1
Roberts, J.S.2
Cupples, L.A.3
-
38
-
-
0030781298
-
Carrier screening for cystic fibrosis: test acceptance and one year follow-up
-
Levenkron JC, Loader S, Rowley PT. Carrier screening for cystic fibrosis: test acceptance and one year follow-up. Am J Med Genet 1997;73(4): 378-86.
-
(1997)
Am J Med Genet
, vol.73
, Issue.4
, pp. 378-386
-
-
Levenkron, J.C.1
Loader, S.2
Rowley, P.T.3
-
39
-
-
0037100079
-
Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families
-
Henneman L, Kooij L, Bouman K, ten Kate LP. Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families. Am J Med Genet 2002;110(4):324-31.
-
(2002)
Am J Med Genet
, vol.110
, Issue.4
, pp. 324-331
-
-
Henneman, L.1
Kooij, L.2
Bouman, K.3
ten Kate, L.P.4
-
40
-
-
0033224590
-
CF carrier testing in a high risk population: anxiety, risk perceptions, and reproductive plans of carrier by "non-carrier" couples
-
Callanan NP, Cheuvront BJ, Sorenson JR. CF carrier testing in a high risk population: anxiety, risk perceptions, and reproductive plans of carrier by "non-carrier" couples. Genet Med 1999;1(7):323-7.
-
(1999)
Genet Med
, vol.1
, Issue.7
, pp. 323-327
-
-
Callanan, N.P.1
Cheuvront, B.J.2
Sorenson, J.R.3
-
41
-
-
84895071011
-
Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing
-
Benn P, Chapman AR, Erickson K, et al. Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing. Prenat Diagn 2014;34(2):145-52.
-
(2014)
Prenat Diagn
, vol.34
, Issue.2
, pp. 145-152
-
-
Benn, P.1
Chapman, A.R.2
Erickson, K.3
-
42
-
-
84943281773
-
-
[cited May 5].
-
Slate. Rick Santorum, Meet My Son [cited 2015 May 5]. Available from: http://www.slate.com/articles/double_x/doublex/2012/02/rick_santorum_and_prenatal_testing_i_would_have_saved_my_son_from_his_suffering_.html.
-
(2015)
-
-
|