-
1
-
-
63449115513
-
Array CGH in patients with learning disability (mental retardation) and congenital anomalies: Updated systematic review and meta-analysis of 19 studies and 13,926 subjects
-
Sagoo GS, Butterworth AS, Sanderson S, et al. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects. Genet Med 2009;11:139-46.
-
(2009)
Genet Med
, vol.11
, pp. 139-146
-
-
Sagoo, G.S.1
Butterworth, A.S.2
Sanderson, S.3
-
3
-
-
84870549609
-
Chromosomal microarray versus karyotyping for prenatal diagnosis
-
Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367:2175-84.
-
(2012)
N Engl J Med
, vol.367
, pp. 2175-2184
-
-
Wapner, R.J.1
Martin, C.L.2
Levy, B.3
-
4
-
-
84889598725
-
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: A review of the literature
-
Callaway JL, Shaffer LG, Chitty LS, et al. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenat Diagn 2013;33:1119-23.
-
(2013)
Prenat Diagn
, vol.33
, pp. 1119-1123
-
-
Callaway, J.L.1
Shaffer, L.G.2
Chitty, L.S.3
-
5
-
-
84861478142
-
Referral patterns for microarray testing in prenatal diagnosis
-
Shaffer LG, Dabell MP, Rosenfeld JA, et al. Referral patterns for microarray testing in prenatal diagnosis. Prenat Diagn 2012;32:344-50.
-
(2012)
Prenat Diagn
, vol.32
, pp. 344-350
-
-
Shaffer, L.G.1
Dabell, M.P.2
Rosenfeld, J.A.3
-
6
-
-
84887475583
-
Genetic medicine and incidental findings: It is more complicated than deciding whether to disclose or not
-
Crawford G, Foulds N, Fenwick A, et al. Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not. Genet Med 2013;15:896-9.
-
(2013)
Genet Med
, vol.15
, pp. 896-899
-
-
Crawford, G.1
Foulds, N.2
Fenwick, A.3
-
7
-
-
84904665035
-
A more fi tting term in the incidental findings debate: One term does not fit all situations
-
[published Online First: Epub Date] doi: 10.1038/ejhg.2013.266
-
Crawford G, Fenwick A, Lucassen A. A more fi tting term in the incidental findings debate: one term does not fit all situations. Eur J Hum Genet 2013. [published Online First: Epub Date] doi: 10.1038/ejhg.2013.266
-
(2013)
Eur J Hum Genet
-
-
Crawford, G.1
Fenwick, A.2
Lucassen, A.3
-
9
-
-
84897680557
-
Genetic Testing of children: The need for a family perspective
-
Lucassen A, Widdershoven G, Metselaar S, et al. Genetic Testing of children: the need for a family perspective. AJOB 2014;14:26-8.
-
(2014)
AJOB
, vol.14
, pp. 26-28
-
-
Lucassen, A.1
Widdershoven, G.2
Metselaar, S.3
-
10
-
-
84891559816
-
Current controversies in prenatal diagnosis 2: Should incidental findings arising from prenatal testing always be reported to patients?
-
Bui TH, Raymond FL, Van den Veyver IB. Current controversies in prenatal diagnosis 2: should incidental findings arising from prenatal testing always be reported to patients? Prenat Diagn 2014;34:12-17.
-
(2014)
Prenat Diagn
, vol.34
, pp. 12-17
-
-
Bui, T.H.1
Raymond, F.L.2
Van Den Veyver, I.B.3
-
11
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15:565-74.
-
(2013)
Genet Med
, vol.15
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
-
12
-
-
84888161299
-
Policy challenges of clinical genome sequencing
-
Wright CF, Middleton A, Burton H, et al. Policy challenges of clinical genome sequencing. BMJ 2013;347:f6845.
-
(2013)
BMJ
, vol.347
-
-
Wright, C.F.1
Middleton, A.2
Burton, H.3
-
13
-
-
84881420673
-
Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics
-
van El CG, Cornel MC, Borry P, et al. Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. Eur J Hum Genet 2013;21(Suppl 1):S1-5.
-
(2013)
Eur J Hum Genet
, vol.21
, Issue.SUPPL. 1
-
-
Van El, C.G.1
Cornel, M.C.2
Borry, P.3
-
15
-
-
79958284705
-
Personal genome testing: Test characteristics to clarify the discourse on ethical, legal and societal issues
-
Bunnik EM, Schermer MH, Janssens AC. Personal genome testing: test characteristics to clarify the discourse on ethical, legal and societal issues. BMC Med Ethics 2011;12:11.
-
(2011)
BMC Med Ethics
, vol.12
, pp. 11
-
-
Bunnik, E.M.1
Schermer, M.H.2
Janssens, A.C.3
-
16
-
-
64549106899
-
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region
-
Coppinger J, McDonald-McGinn D, Zackai E, et al. Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet 2009;18:1377-83.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1377-1383
-
-
Coppinger, J.1
McDonald-McGinn, D.2
Zackai, E.3
-
17
-
-
74249092819
-
De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay
-
Wincent J, Schoumans J, Anderlid BM. De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay. Eur J Med Genet 2010;53:50-3.
-
(2010)
Eur J Med Genet
, vol.53
, pp. 50-53
-
-
Wincent, J.1
Schoumans, J.2
Anderlid, B.M.3
-
18
-
-
84878873338
-
Estimates of penetrance for recurrent pathogenic copy-number variations
-
Rosenfeld JA, Coe PC, Eichler EE, et al. Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med 2013;6:478-81.
-
(2013)
Genet Med
, vol.6
, pp. 478-481
-
-
Rosenfeld, J.A.1
Coe, P.C.2
Eichler, E.E.3
-
19
-
-
84859133651
-
Integration of microarray technology into prenatal diagnosis: Counselling issues generated during the NICHD clinical trial
-
Wapner RJ, Driscoll DA, Simpson JL. Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial. Prenat Diagn 2012;32:396-400.
-
(2012)
Prenat Diagn
, vol.32
, pp. 396-400
-
-
Wapner, R.J.1
Driscoll, D.A.2
Simpson, J.L.3
-
20
-
-
84865195385
-
The introduction of arrays in prenatal diagnosis: A special challenge
-
Vetro A, Bouman K, Hastings R, et al. The introduction of arrays in prenatal diagnosis: a special challenge. Hum Mutat 2012;33:923-9.
-
(2012)
Hum Mutat
, vol.33
, pp. 923-929
-
-
Vetro, A.1
Bouman, K.2
Hastings, R.3
-
21
-
-
84893182999
-
Committee Opinion No. 581: The use of chromosomal microarray analysis in prenatal diagnosis
-
American College of Obstetricians and Gynecologists Committee on Genetics
-
American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol 2013;122:1374-7.
-
(2013)
Obstet Gynecol
, vol.122
, pp. 1374-1377
-
-
-
22
-
-
84926507648
-
Consent and confidentiality in clinical genetic practice
-
Joint Committee of Medical Genetics. A Lucassen and A Hall. UK: Royal College of Physicians
-
Joint Committee of Medical Genetics. Consent and confidentiality in clinical genetic practice. In: A Lucassen and A Hall. Guidance on genetic testing and sharing genetic information. 2nd edn. UK: Royal College of Physicians, 2011.
-
(2011)
Guidance on Genetic Testing and Sharing Genetic Information. 2nd Edn.
-
-
-
23
-
-
84875222651
-
Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: Does increased diagnostic power outweigh the dilemma of rare variants?
-
Ganesamoorthy D, Bruno DL, McGillivray G, et al. Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants? BJOG 2013;120:594-606.
-
(2013)
BJOG
, vol.120
, pp. 594-606
-
-
Ganesamoorthy, D.1
Bruno, D.L.2
McGillivray, G.3
-
25
-
-
84898033264
-
Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges
-
Vanakker O, Vilain C, Janssens K, et al. Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges. Eur J Med Genet 2014;57:151-6.
-
(2014)
Eur J Med Genet
, vol.57
, pp. 151-156
-
-
Vanakker, O.1
Vilain, C.2
Janssens, K.3
-
26
-
-
84892585067
-
Prenatal whole-genome sequencing - Is the quest to know a fetus's future ethical?
-
Yurkiewicz IR, Korf BR, Lehmann LS. Prenatal whole-genome sequencing - is the quest to know a fetus's future ethical? N Engl J Med 2014;370:195-7.
-
(2014)
N Engl J Med
, vol.370
, pp. 195-197
-
-
Yurkiewicz, I.R.1
Korf, B.R.2
Lehmann, L.S.3
|