-
1
-
-
77952032690
-
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
Miller DT, Adam MP, Aradhya S et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010: 86: 749-764.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
-
2
-
-
84856845510
-
Chromosome microarray in Australia: a guide for paediatricians
-
Palmer EE, Peters GB, Mowat D. Chromosome microarray in Australia: a guide for paediatricians. J Paediatr Child Health 2012: 48: E59-E67.
-
(2012)
J Paediatr Child Health
, vol.48
, pp. E59-E67
-
-
Palmer, E.E.1
Peters, G.B.2
Mowat, D.3
-
3
-
-
34347361618
-
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
-
Lee C, Iafrate A. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet 2007: 39: S48-S54.
-
(2007)
Nat Genet
, vol.39
, pp. S48-S54
-
-
Lee, C.1
Iafrate, A.2
-
4
-
-
79960783840
-
American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities
-
Genet Med
-
Kearney H, South S, Wolff D, Lamb A, Hamosh A, Rao KW. American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. Genet Med 2011: 13: 676.
-
(2011)
, vol.13
, pp. 676
-
-
Kearney, H.1
South, S.2
Wolff, D.3
Lamb, A.4
Hamosh, A.5
Rao, K.W.6
-
5
-
-
84885385455
-
Implementation of massively parallel sequencing in diagnostic medical genetic testing, from
-
Accessed on January 13, 2014.
-
Royal College of Pathologists of Australasia (RCPA). Implementation of massively parallel sequencing in diagnostic medical genetic testing 2013, from http://pathwiki.rcpaqap.com.au/pathwiki/index.php/Introduction. Accessed on January 13, 2014.
-
(2013)
-
-
-
6
-
-
84871255580
-
Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families
-
Reiff M, Ross K, Mulchandani S et al. Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families. Clin Genet 2013: 83: 23-30.
-
(2013)
Clin Genet
, vol.83
, pp. 23-30
-
-
Reiff, M.1
Ross, K.2
Mulchandani, S.3
-
7
-
-
84856718448
-
"What does it mean?": uncertainties in understanding results of chromosomal microarray testing
-
Reiff M, Bernhardt BA, Mulchandani S et al. "What does it mean?": uncertainties in understanding results of chromosomal microarray testing. Genet Med 2012: 14: 250-258.
-
(2012)
Genet Med
, vol.14
, pp. 250-258
-
-
Reiff, M.1
Bernhardt, B.A.2
Mulchandani, S.3
-
8
-
-
34247149788
-
Why do we need a diagnosis? A qualitative study of parents? experiences, coping and needs, when the newborn child is severely disabled
-
Graungaard AH, Skov L. Why do we need a diagnosis? A qualitative study of parents? experiences, coping and needs, when the newborn child is severely disabled. Child Care Health Dev 2007: 33: 296-307.
-
(2007)
Child Care Health Dev
, vol.33
, pp. 296-307
-
-
Graungaard, A.H.1
Skov, L.2
-
10
-
-
0035479331
-
Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes
-
Rosenthal E, Biesecker L, Biesecker B. Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes. Am J Med Genet 2001: 103: 106-114.
-
(2001)
Am J Med Genet
, vol.103
, pp. 106-114
-
-
Rosenthal, E.1
Biesecker, L.2
Biesecker, B.3
-
12
-
-
70449397325
-
Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID
-
149A.
-
Makela NL, Birch PH, Friedman JM, Marra CA. Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID. Am J Med Genet 2009: 149A: 2393-2402.
-
(2009)
Am J Med Genet
, pp. 2393-2402
-
-
Makela, N.L.1
Birch, P.H.2
Friedman, J.M.3
Marra, C.A.4
-
13
-
-
84880767250
-
Key informants' perspectives of implementing chromosomal microarrays into clinical practice in Australia
-
Turbitt E, Halliday JL, Metcalfe SA. Key informants' perspectives of implementing chromosomal microarrays into clinical practice in Australia. Twin Res Hum Genet 2013: 16: 833-839.
-
(2013)
Twin Res Hum Genet
, vol.16
, pp. 833-839
-
-
Turbitt, E.1
Halliday, J.L.2
Metcalfe, S.A.3
-
14
-
-
84857795542
-
Prevalence of eczema and food allergy is associated with latitude in Australia
-
Osborne NJ, Ukoumunne OC, Wake M, Allen KJ. Prevalence of eczema and food allergy is associated with latitude in Australia. J Allergy Clin Immunol 2012: 129: 865-867.
-
(2012)
J Allergy Clin Immunol
, vol.129
, pp. 865-867
-
-
Osborne, N.J.1
Ukoumunne, O.C.2
Wake, M.3
Allen, K.J.4
-
16
-
-
57449092873
-
An unwelcome side effect of direct-to-consumer personal genome testing: raiding the medical commons
-
Mcguire AL, Burke W. An unwelcome side effect of direct-to-consumer personal genome testing: raiding the medical commons. JAMA 2008: 300: 2669-2671.
-
(2008)
JAMA
, vol.300
, pp. 2669-2671
-
-
Mcguire, A.L.1
Burke, W.2
-
17
-
-
0036255656
-
Cascade effects of medical technology
-
Deyo RA. Cascade effects of medical technology. Annu Rev Public Health 2002: 23: 23-44.
-
(2002)
Annu Rev Public Health
, vol.23
, pp. 23-44
-
-
Deyo, R.A.1
-
18
-
-
84893182999
-
The use of chromosomal microarray analysis in prenatal diagnosis. Committee Opinion No. 581
-
American College of Obstetricians and Gynecologists.
-
American College of Obstetricians and Gynecologists. The use of chromosomal microarray analysis in prenatal diagnosis. Committee Opinion No. 581. Obstet Gynecol 2013: 122: 1374-1377.
-
(2013)
Obstet Gynecol
, vol.122
, pp. 1374-1377
-
-
-
19
-
-
84859112155
-
Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing
-
McGillivray G, Rosenfeld JA, McKinlay Gardner RJ, Gillam LH. Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing. Prenat Diagn 2012: 32: 389-395.
-
(2012)
Prenat Diagn
, vol.32
, pp. 389-395
-
-
McGillivray, G.1
Rosenfeld, J.A.2
McKinlay Gardner, R.J.3
Gillam, L.H.4
-
20
-
-
84886286114
-
Variants of unknown significance in BRCA testing: impact on risk perception, worry, prevention and counseling
-
Richter S, Haroun I, Graham TC, Eisen A, Kiss A, Warner E. Variants of unknown significance in BRCA testing: impact on risk perception, worry, prevention and counseling. Ann Oncol 2013: 24: viii69-viii74.
-
(2013)
Ann Oncol
, vol.24
, pp. 869-874
-
-
Richter, S.1
Haroun, I.2
Graham, T.C.3
Eisen, A.4
Kiss, A.5
Warner, E.6
-
21
-
-
84855399483
-
Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees's; perception, the medical impact by the pathogenic or uninformative BRCA1/2-result
-
Vos J, Gómez-García E, Oosterwijk JC et al. Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees's; perception, the medical impact by the pathogenic or uninformative BRCA1/2-result. Psychooncology 2010: 21: 29-42.
-
(2010)
Psychooncology
, vol.21
, pp. 29-42
-
-
Vos, J.1
Gómez-García, E.2
Oosterwijk, J.C.3
|