-
1
-
-
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:S192-5.
-
(2000)
Eur J Pediatr
, vol.159
, pp. S192-S195
-
-
Kaback, M.M.1
-
2
-
-
0019513029
-
Prevention of homozygous beta-thalassemia by carrier screening an prenatal diagnosis in Sardinia
-
Cao A, Furbetta M, Galanello R, et al. Prevention of homozygous beta-thalassemia by carrier screening an prenatal diagnosis in Sardinia. Am J Hum Genet 1981;33:592-605.
-
(1981)
Am J Hum Genet
, vol.33
, pp. 592-605
-
-
Cao, A.1
Furbetta, M.2
Galanello, R.3
-
3
-
-
0023632123
-
Prevention of thalassemia and hemoglobin S syndromes in Greece
-
Fessas P. Prevention of thalassemia and hemoglobin S syndromes in Greece. Acta Haematol 1987;78:168-72.
-
(1987)
Acta Haematol
, vol.78
, pp. 168-172
-
-
Fessas, P.1
-
4
-
-
0035746363
-
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Subcommittee on Cystic Fibrosis Screening. Accreditation of Genetic Services Committee, ACMG. American College of Medical Genetics
-
Grody WW, Cutting GR, Klinger KW, et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Subcommittee on Cystic Fibrosis Screening. Accreditation of Genetic Services Committee, ACMG. American College of Medical Genetics. Genet Med 2001;3:149-54.
-
(2001)
Genet Med
, vol.3
, pp. 149-154
-
-
Grody, W.W.1
Cutting, G.R.2
Klinger, K.W.3
-
5
-
-
79953212970
-
American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion 46. Update on carrier screening for cystic fibrosis
-
ACOG
-
ACOG. American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion 46. Update on carrier screening for cystic fibrosis. Obstetr Gynecol 2011;117:1028-31.
-
(2011)
Obstetr Gynecol
, vol.117
, pp. 1028-1031
-
-
-
6
-
-
84921485345
-
Cystic fibrosis population screening position paper (Document 2013PS03)
-
Accessed September 15
-
Human Genetics Society of Australasia. Cystic fibrosis population screening position paper (Document 2013PS03). HGSA: Sydney, Australia. http://www.hgsa.org.au/documents/item/1282. Accessed September 15, 2014.
-
(2014)
HGSA: Sydney, Australia
-
-
-
7
-
-
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;24:644-51.
-
(2002)
J Obstet Gynaecol Can
, vol.24
, pp. 644-651
-
-
Wilson, R.D.1
Davies, G.2
Desilets, V.3
-
8
-
-
84921512113
-
Cystic fibrosis (pregnancy)
-
Accessed September 15
-
UK National Screening Committee. Cystic fibrosis (pregnancy). UK NSC Policy database. http://www.screening.nhs.uk/cysticfibrosis-pregnancy. Accessed September 15, 2014.
-
(2014)
UK NSC Policy database
-
-
-
9
-
-
57449107362
-
Carrier screening for spinal muscular atrophy
-
Prior TW, Professional Practice and Guidelines Committee. Carrier screening for spinal muscular atrophy. Genet Med 2008; 10:840-2.
-
(2008)
Genet Med
, vol.10
, pp. 840-842
-
-
-
10
-
-
66149090002
-
ACOG committee opinion No. 432: spinal muscular atrophy
-
ACOG Committee on Genetics. ACOG committee opinion No. 432: spinal muscular atrophy. Obstet Gynecol 2009;113:1194-6.
-
(2009)
Obstet Gynecol
, vol.113
, pp. 1194-1196
-
-
-
11
-
-
0002787025
-
Chapter 1. Genetics, Biochemistry, and Molecular Bases of Variant Human Phenotypes
-
In, Valle D, Beaudet AL, Vogelstein B, McGraw-Hill: NewYork, Accessed 07/28/2014.
-
Beaudet AL, Scriver CR, Sly WS, Valle D. Chapter 1. Genetics, Biochemistry, and Molecular Bases of Variant Human Phenotypes. In, Metabolic and Molecular Basis of Human Disease. Valle D, Beaudet AL, Vogelstein B, et al. McGraw-Hill: NewYork. http://www.ommbid.com/OMMBID/a/c.html/introduction/genetics_biochemistry_molecular_bases_variant_human_phenotypes. Accessed 07/28/2014.
-
Metabolic and Molecular Basis of Human Disease
-
-
Beaudet, A.L.1
Scriver, C.R.2
Sly, W.S.3
Valle, D.4
-
12
-
-
84990951104
-
Carrier screening: past, present, and future
-
Bajaj, K, Gross SJ. Carrier screening: past, present, and future. J Clin Med 2014;3:1033-42.
-
(2014)
J Clin Med
, vol.3
, pp. 1033-1042
-
-
Bajaj, K.1
Gross, S.J.2
-
13
-
-
84876491483
-
Prenatal and newborn screening for hemoglobinopathies
-
Hoppe CC. Prenatal and newborn screening for hemoglobinopathies. Internal J Lab Hematol 2013;35:297-305.
-
(2013)
Internal J Lab Hematol
, vol.35
, pp. 297-305
-
-
Hoppe, C.C.1
-
14
-
-
84921452652
-
-
Accessed 7/28/2014.
-
California Newborn Screening Program. http://www.cdph.ca.gov/programs/nbs/Pages/NBSHowCommon.aspx. Accessed 7/28/2014.
-
-
-
-
16
-
-
33646402750
-
National Jewish Population Survey
-
Accessed 07/28/2014.
-
United Jewish Communities Report. National Jewish Population Survey, 2000-2001. http://www.jewishdatabank.org/Studies/downloadFile.cfm?FileID=1490. Accessed 07/28/2014.
-
(2000)
-
-
-
17
-
-
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;15:178-86.
-
(2013)
Genet Med
, vol.15
, pp. 178-186
-
-
Lazarin, G.A.1
Haque, I.S.2
Nazareth, S.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 Part A 2011;158A:19-23.
-
(2011)
Am J Med Genet Part A
, vol.158 A
, pp. 19-23
-
-
Ross, L.F.1
-
19
-
-
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;16:180-9.
-
(2014)
J Mol Diagn
, vol.16
, pp. 180-189
-
-
Hallam, S.1
Nelson, H.2
Greger, V.3
-
20
-
-
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 Translat Med 2011;3:65ra4.
-
(2011)
Sci Translat Med
, vol.3
-
-
Bell, C.J.1
Dinwiddie, D.L.2
Miller, N.A.3
-
21
-
-
84867475619
-
Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases
-
e4f9877ab8ffa9.
-
Kingsmore S. Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases. PLoS Curr. 2012:e4f9877ab8ffa9.
-
(2012)
PLoS Curr
-
-
Kingsmore, S.1
-
22
-
-
84878831736
-
ACMG position statement on prenatal/preconception expanded carrier screening
-
Grody WW, Thompson BH, Gregg AR, et al. ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med 2013;15:482-3.
-
(2013)
Genet Med
, vol.15
, pp. 482-483
-
-
Grody, W.W.1
Thompson, B.H.2
Gregg, A.R.3
-
23
-
-
84871859283
-
Intended and unintended births in the United States: 1982-2010
-
Jul 24
-
Mosher WD, Jones J, Abma JC. Intended and unintended births in the United States: 1982-2010. Natl Health Stat Report 2012 Jul 24;(55):1-28.
-
(2012)
Natl Health Stat Report
, vol.55
, pp. 1-28
-
-
Mosher, W.D.1
Jones, J.2
Abma, J.C.3
-
24
-
-
84921508726
-
-
ACOG.
-
ACOG 2009.
-
(2009)
-
-
-
25
-
-
4644244713
-
Practice patterns of obstetrician-gynecologists regarding preconception and prenatal screening for cystic fibrosis
-
Morgan MA, Driscoll DA, Mennuti MT, et al. Practice patterns of obstetrician-gynecologists regarding preconception and prenatal screening for cystic fibrosis. Genet Med 2004;6:450-5.
-
(2004)
Genet Med
, vol.6
, pp. 450-455
-
-
Morgan, M.A.1
Driscoll, D.A.2
Mennuti, M.T.3
-
26
-
-
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;34:145-52.
-
(2014)
Prenat Diagn
, vol.34
, pp. 145-152
-
-
Benn, P.1
Chapman, A.R.2
Erickson, K.3
-
27
-
-
82955162710
-
The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data
-
Strom CM, Redman JB, Peng M. The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data. Genet Med 2011;13:1042-4.
-
(2011)
Genet Med
, vol.13
, pp. 1042-1044
-
-
Strom, C.M.1
Redman, J.B.2
Peng, M.3
-
28
-
-
79957684280
-
Cystic fibrosis carrier testing in an ethnically diverse US population
-
Rohlfs EM, Zhou Z, Heim RA, et al. Cystic fibrosis carrier testing in an ethnically diverse US population. Clin Chem 2011;57:841-8.
-
(2011)
Clin Chem
, vol.57
, pp. 841-848
-
-
Rohlfs, E.M.1
Zhou, Z.2
Heim, R.A.3
-
29
-
-
84924662524
-
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies
-
Jul 23
-
Traeger-Synodinos J, Harteveld CL, Old JM, et al. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. Eur J Hum Genet 2014 Jul 23. doi:10.1038/ejhg.2014.131.
-
(2014)
Eur J Hum Genet
-
-
Traeger-Synodinos, J.1
Harteveld, C.L.2
Old, J.M.3
-
30
-
-
84901622032
-
The case for universal prenatal genetic counseling
-
Minkoff H, Berkowitz R. The case for universal prenatal genetic counseling. Obstet Gynecol 2014;123:1335-8.
-
(2014)
Obstet Gynecol
, vol.123
, pp. 1335-1338
-
-
Minkoff, H.1
Berkowitz, R.2
-
31
-
-
84878274723
-
Expanded carrier screening in reproductive healthcare: perspectives from genetics professionals
-
Cho D, McGowan ML, Metcalfe J, et al. Expanded carrier screening in reproductive healthcare: perspectives from genetics professionals. Hum Reprod 2013;28:1725-30.
-
(2013)
Hum Reprod
, vol.28
, pp. 1725-1730
-
-
Cho, D.1
McGowan, M.L.2
Metcalfe, J.3
-
32
-
-
84875965587
-
Considering the cost of expanded carrier screening panels
-
Stoll K, Resta R. Considering the cost of expanded carrier screening panels. Genet Med 2013;15:318-9.
-
(2013)
Genet Med
, vol.15
, pp. 318-319
-
-
Stoll, K.1
Resta, R.2
-
33
-
-
84880071970
-
The changing landscape of carrier screening:expanding technology and options?
-
McGowan ML, Cho D, Sharp RR. The changing landscape of carrier screening:expanding technology and options? Health Matrix Clevel 2013;23:15-33.
-
(2013)
Health Matrix Clevel
, vol.23
, pp. 15-33
-
-
McGowan, M.L.1
Cho, D.2
Sharp, R.R.3
|