-
1
-
-
84871645744
-
National, regional, and global trends in infertility prevalence since 1990: A systematic analysis of 277 health surveys
-
M.N. Mascarenhas, S.R. Flaxman, T. Boerma, S. Vanderpoel, and G.A. Stevens National, regional, and global trends in infertility prevalence since 1990: a systematic analysis of 277 health surveys PLoS Med 9 2012 e1001356
-
(2012)
PLoS Med
, vol.9
, pp. e1001356
-
-
Mascarenhas, M.N.1
Flaxman, S.R.2
Boerma, T.3
Vanderpoel, S.4
Stevens, G.A.5
-
2
-
-
84902667373
-
International Committee for Monitoring Assisted Reproductive Technologies world report: Assisted reproductive technology 2006
-
R. Mansour, O. Ishihara, G.D. Adamson, S. Dyer, J. de Mouzon, K.G. Nygren, and et al. International Committee for Monitoring Assisted Reproductive Technologies world report: assisted reproductive technology 2006 Hum Reprod 29 2014 1536 1551
-
(2014)
Hum Reprod
, vol.29
, pp. 1536-1551
-
-
Mansour, R.1
Ishihara, O.2
Adamson, G.D.3
Dyer, S.4
De Mouzon, J.5
Nygren, K.G.6
-
3
-
-
34447316145
-
International estimates of infertility prevalence and treatment-seeking: Potential need and demand for infertility medical care
-
J. Boivin, L. Bunting, J.A. Collins, and K.G. Nygren International estimates of infertility prevalence and treatment-seeking: potential need and demand for infertility medical care Hum Reprod 22 2007 1506 1512
-
(2007)
Hum Reprod
, vol.22
, pp. 1506-1512
-
-
Boivin, J.1
Bunting, L.2
Collins, J.A.3
Nygren, K.G.4
-
4
-
-
0021868248
-
The effect of Mendelian disease on human health: A measurement
-
T. Costa, C.R. Scriver, and B. Childs The effect of Mendelian disease on human health: a measurement Am J Med Genet 21 1985 243 255
-
(1985)
Am J Med Genet
, vol.21
, pp. 243-255
-
-
Costa, T.1
Scriver, C.R.2
Childs, B.3
-
5
-
-
0034908911
-
Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department
-
P. Kumar, J. Radhakrishnan, M.A. Chowdhary, and P.F. Giampietro Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department Mayo Clin Proc 76 2001 777 783
-
(2001)
Mayo Clin Proc
, vol.76
, pp. 777-783
-
-
Kumar, P.1
Radhakrishnan, J.2
Chowdhary, M.A.3
Giampietro, P.F.4
-
6
-
-
78651393550
-
Carrier testing for severe childhood recessive diseases by next-generation sequencing
-
C.J. Bell, D.L. Dinwiddie, N.A. Miller, S.L. Hateley, E.E. Ganusova, J. Mudge, and et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing Sci Transl Med 3 2011 65ra4
-
(2011)
Sci Transl Med
, vol.3
, pp. 65ra4
-
-
Bell, C.J.1
Dinwiddie, D.L.2
Miller, N.A.3
Hateley, S.L.4
Ganusova, E.E.5
Mudge, J.6
-
7
-
-
84898410905
-
Next-generation carrier screening
-
M.A. Umbarger, C.J. Kennedy, P. Saunders, B. Breton, N. Chennagiri, J. Emhoff, and et al. Next-generation carrier screening Genet Med 16 2014 132 140
-
(2014)
Genet Med
, vol.16
, pp. 132-140
-
-
Umbarger, M.A.1
Kennedy, C.J.2
Saunders, P.3
Breton, B.4
Chennagiri, N.5
Emhoff, J.6
-
8
-
-
27644581610
-
Technical standards and guidelines: Molecular genetic testing for ultra-rare disorders
-
A. Maddalena, S. Bale, S. Das, W. Grody, and S. Richards Technical standards and guidelines: molecular genetic testing for ultra-rare disorders Genet Med 7 2005 571 583
-
(2005)
Genet Med
, vol.7
, pp. 571-583
-
-
Maddalena, A.1
Bale, S.2
Das, S.3
Grody, W.4
Richards, S.5
-
9
-
-
70349678533
-
ACOG Committee Opinion no. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent
-
American College of Obstetrics and Gyncology 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 114 2009 950 953
-
(2009)
Obstet Gynecol
, vol.114
, pp. 950-953
-
-
-
10
-
-
33745620229
-
ACOG Committee Opinion no. 338. Screening for fragile X syndrome
-
American College of Obstetrics and Gyncology Committee on Genetics ACOG Committee Opinion no. 338. Screening for fragile X syndrome Obstet Gynecol 107 2006 1483 1485
-
(2006)
Obstet Gynecol
, vol.107
, pp. 1483-1485
-
-
-
11
-
-
27944501726
-
ACOG Committee Opinion no. 325. December 2005. Update on carrier screening for cystic fibrosis
-
American College of Obstetrics and Gyncology Committee on Genetics ACOG Committee Opinion no. 325. December 2005. Update on carrier screening for cystic fibrosis Obstet Gynecol 106 2005 1465 1468
-
(2005)
Obstet Gynecol
, vol.106
, pp. 1465-1468
-
-
-
12
-
-
84898882496
-
ESHRE PGD Consortium data collection XII: Cycles from January to December 2009 with pregnancy follow-up to October 2010
-
V. Moutou, V. Goossens, E. Coonen, M. De Rycke, G. Kokkali, P. Renwick, and et al. ESHRE PGD Consortium data collection XII: cycles from January to December 2009 with pregnancy follow-up to October 2010 Hum Reprod 29 2014 880 903
-
(2014)
Hum Reprod
, vol.29
, pp. 880-903
-
-
Moutou, V.1
Goossens, V.2
Coonen, E.3
De Rycke, M.4
Kokkali, G.5
Renwick, P.6
-
13
-
-
80053355174
-
Comprehensive comparison of three commercial human whole-exome capture platforms
-
Asan, Y. Xu, H. Jiang, C. Tyler-Smith, Y. Xue, T. Jiang, and et al. Comprehensive comparison of three commercial human whole-exome capture platforms Genome Biol 12 2011 R95
-
(2011)
Genome Biol
, vol.12
, pp. R95
-
-
Asan1
Xu, Y.2
Jiang, H.3
Tyler-Smith, C.4
Xue, Y.5
Jiang, T.6
-
14
-
-
42149139456
-
ACMG recommendations standards for interpretation and reporting of sequence variations: Revisions 2007
-
C.S. Richards, S. Bale, D.B. Bellissimo, S. Das, W.W. Grody, M.R. Hegde, and et al. ACMG recommendations standards for interpretation and reporting of sequence variations: revisions 2007 Genet Med 10 2008 294 300
-
(2008)
Genet Med
, vol.10
, pp. 294-300
-
-
Richards, C.S.1
Bale, S.2
Bellissimo, D.B.3
Das, S.4
Grody, W.W.5
Hegde, M.R.6
-
15
-
-
77953446523
-
The Human Gene Mutation Database: 2008 update
-
P.D. Stenson, M. Mort, E.V. Ball, K. Howells, A.D. Phillips, N.S. Thomas, and et al. The Human Gene Mutation Database: 2008 update Genome Med 1 2009 13
-
(2009)
Genome Med
, vol.1
, pp. 13
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
Howells, K.4
Phillips, A.D.5
Thomas, N.S.6
-
16
-
-
0035412399
-
A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia
-
A.S. Tan, A.S. Tan, T.C. Quah, P.S. Low, and S.S. Chong A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia Blood 98 2001 250 251
-
(2001)
Blood
, vol.98
, pp. 250-251
-
-
Tan, A.S.1
Tan, A.S.2
Quah, T.C.3
Low, P.S.4
Chong, S.S.5
-
17
-
-
0033774960
-
Simplified multiplex-PCR diagnosis of common southeast Asian deletional determinants of alpha-thalassemia
-
S.S. Chong, C.D. Boehm, G.R. Cutting, and D.R. Higgs Simplified multiplex-PCR diagnosis of common southeast Asian deletional determinants of alpha-thalassemia Clin Chem 46 2000 1692 1695
-
(2000)
Clin Chem
, vol.46
, pp. 1692-1695
-
-
Chong, S.S.1
Boehm, C.D.2
Cutting, G.R.3
Higgs, D.R.4
-
18
-
-
0026604940
-
Salt-wasting congenital adrenal hyperplasia: Detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction
-
D. Owerbach, A.L. Ballard, and M.B. Draznin Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction J Clin Endocrinol Metab 74 1992 553 558
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 553-558
-
-
Owerbach, D.1
Ballard, A.L.2
Draznin, M.B.3
-
19
-
-
0036096037
-
Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
-
R.D. Bagnall, N. Waseem, P.M. Green, and F. Giannelli Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A Blood 99 2002 168 174
-
(2002)
Blood
, vol.99
, pp. 168-174
-
-
Bagnall, R.D.1
Waseem, N.2
Green, P.M.3
Giannelli, F.4
-
20
-
-
0032529667
-
Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A
-
Q. Liu, G. Nozari, and S.S. Sommer Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A Blood 92 1998 1458 1459
-
(1998)
Blood
, vol.92
, pp. 1458-1459
-
-
Liu, Q.1
Nozari, G.2
Sommer, S.S.3
-
21
-
-
35448954500
-
Robust quantification of the SMN gene copy number by real-time TaqMan PCR
-
I. Gomez-Curet, K.G. Robinson, V.L. Funanage, T.O. Crawford, M. Scavina, and W. Wang Robust quantification of the SMN gene copy number by real-time TaqMan PCR Neurogenetics 8 2007 271 278
-
(2007)
Neurogenetics
, vol.8
, pp. 271-278
-
-
Gomez-Curet, I.1
Robinson, K.G.2
Funanage, V.L.3
Crawford, T.O.4
Scavina, M.5
Wang, W.6
-
22
-
-
84869429716
-
Assuring the quality of next generation sequencing in clinical laboratory practice
-
A.S. Gargis, L. Kalman, M.W. Berry, D.P. Bick, D.P. Dimmock, T. Hambuch, and et al. Assuring the quality of next generation sequencing in clinical laboratory practice Nat Biotechnol 30 2012 1033 1036
-
(2012)
Nat Biotechnol
, vol.30
, pp. 1033-1036
-
-
Gargis, A.S.1
Kalman, L.2
Berry, M.W.3
Bick, D.P.4
Dimmock, D.P.5
Hambuch, T.6
-
23
-
-
84902667377
-
ESHRE Task Force on Ethics and Law 21: Genetic screening of gamete donors: Ethical issues
-
W. Dondorp, G. De Wert, G. Pennings, F. Shenfield, P. Devroey, B. Tarlatzis, and et al. ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues Hum Reprod 29 2014 1353 1359
-
(2014)
Hum Reprod
, vol.29
, pp. 1353-1359
-
-
Dondorp, W.1
De Wert, G.2
Pennings, G.3
Shenfield, F.4
Devroey, P.5
Tarlatzis, B.6
-
24
-
-
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
-
J.C. Edwards, G. Feldman, J. Goldberg, A.R. Gregg, M.E. Norton, N.C. Rose, and 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 125 2015 653 662
-
(2015)
Obstet Gynecol
, vol.125
, pp. 653-662
-
-
Edwards, J.C.1
Feldman, G.2
Goldberg, J.3
Gregg, A.R.4
Norton, M.E.5
Rose, N.C.6
-
25
-
-
84875178813
-
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: Results from an ethnically diverse clinical sample of 23,453 individuals
-
G.A. Lazarin, I.S. Haque, S. Nazareth, K. Lori, S. Patterson, J.L. Jacobson, and 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 15 2013 178 186
-
(2013)
Genet Med
, vol.15
, pp. 178-186
-
-
Lazarin, G.A.1
Haque, I.S.2
Nazareth, S.3
Lori, K.4
Patterson, S.5
Jacobson, J.L.6
-
26
-
-
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
-
S. Hallam, H. Nelson, V. Greger, C. Perrault-Micale, J. Davie, N. Faulkner, and 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 16 2014 180 189
-
(2014)
J Mol Diagn
, vol.16
, pp. 180-189
-
-
Hallam, S.1
Nelson, H.2
Greger, V.3
Perrault-Micale, C.4
Davie, J.5
Faulkner, N.6
-
27
-
-
84870900036
-
Deleterious- and disease-allele prevalence in healthy individuals: Insights from current predictions, mutation databases, and population-scale resequencing
-
Y. Xue, Y. Chen, Q. Ayub, N. Huang, E.V. Ball, M. Mort, and et al. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing Am J Hum Genet 91 2012 1022 1032
-
(2012)
Am J Hum Genet
, vol.91
, pp. 1022-1032
-
-
Xue, Y.1
Chen, Y.2
Ayub, Q.3
Huang, N.4
Ball, E.V.5
Mort, M.6
|