-
1
-
-
84905980713
-
-
Policy no.: 06.02.35f. Effective date 1 January 2014
-
Independence BS medical policy bulletin: genetic testing. Policy no.: 06.02.35f. Effective date 1 January 2014. http://medpolicy.ibx.com/policies/mpi. nsf/f12d23cb982d59b485257bad00552d87/85256aa800623d7a 85257c450027b880!OpenDocument.
-
Independence BS Medical Policy Bulletin: Genetic Testing
-
-
-
2
-
-
84905995666
-
-
Policy no.: 0140. Last review 31 January 2014
-
Aetna SM clinical policy bulletin: genetic testing. Policy no.: 0140. Last review 31 January 2014. http://www.aetna.com/cpb/medical/data/100-199/0140. html.
-
Aetna SM Clinical Policy Bulletin: Genetic Testing
-
-
-
3
-
-
84905968396
-
-
Policy no.: 0052. Effective date 15 September 2013
-
Cigna medical coverage policies: genetic testing of heritable disorders. Policy no.: 0052. Effective date 15 September 2013. https://cignaforhcp.cigna. com/public/content/pdf/coveragePolicies/medical/mm-0052-coverageposi tioncriteria-genetic-testing.pdf in.
-
Cigna Medical Coverage Policies: Genetic Testing of Heritable Disorders
-
-
-
5
-
-
84898885844
-
Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing
-
Miller CE, Krautscheid P, Baldwin EE, et al. Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing. Am J Med Genet A 2014; 164A:1094-1101.
-
(2014)
Am J Med Genet A
, vol.164 A
, pp. 1094-1101
-
-
Miller, C.E.1
Krautscheid, P.2
Baldwin, E.E.3
-
6
-
-
77953212103
-
Role of genetic testing in retinoblas-toma management at a tertiary referral centre
-
Pradhan MA, Ng Y, Strickland A, et al. Role of genetic testing in retinoblas-toma management at a tertiary referral centre. Clin Experiment Ophthalmol 2010; 38:231-236.
-
(2010)
Clin Experiment Ophthalmol
, vol.38
, pp. 231-236
-
-
Pradhan, M.A.1
Ng, Y.2
Strickland, A.3
-
7
-
-
33644665922
-
WAGR syndrome: A clinical review of 54 cases
-
DOI 10.1542/peds.2004-0467
-
Fischbach BV, Trout KL, Lewis J, et al. WAGR syndrome: a clinical review of 54 cases. Pediatrics 2005; 116:984-988. (Pubitemid 44542829)
-
(2005)
Pediatrics
, vol.116
, Issue.4
, pp. 984-988
-
-
Fischbach, B.V.1
Trout, K.L.2
Lewis, J.3
Luis, C.A.4
Sika, M.5
-
9
-
-
84905974184
-
Retinal dystrophy with intraretinal cystoid spaces associated with mutations in the crumbs homologue (CRB1) gene
-
Epub ahead of print
-
Cordovez JA, Traboulsi EI, Capasso JE, et al. Retinal dystrophy with intraretinal cystoid spaces associated with mutations in the crumbs homologue (CRB1) gene. Ophthalmic Genet 2014. [Epub ahead of print]
-
(2014)
Ophthalmic Genet
-
-
Cordovez, J.A.1
Traboulsi, E.I.2
Capasso, J.E.3
-
10
-
-
53149096200
-
Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation
-
Radu RA, Yuan Q, Hu J, et al. Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation. Invest Ophthalmol Vis Sci 2008; 49:3821-3829.
-
(2008)
Invest Ophthalmol Vis Sci
, vol.49
, pp. 3821-3829
-
-
Radu, R.A.1
Yuan, Q.2
Hu, J.3
-
11
-
-
79551638162
-
Mitochondrial optic neuropathies-disease mechanisms and therapeutic strategies
-
Yu-Wai-Man P, Griffiths PG, Chinnery PF. Mitochondrial optic neuropathies-disease mechanisms and therapeutic strategies. Prog Retin Eye Res 2011; 30:81-114.
-
(2011)
Prog Retin Eye Res
, vol.30
, pp. 81-114
-
-
Yu-Wai-Man, P.1
Griffiths, P.G.2
Chinnery, P.F.3
-
12
-
-
84865486899
-
EyeGENE(R): A novel approach to combine clinical testing and researching genetic ocular disease
-
Goetz KE, Reeves MJ, Tumminia SJ, Brooks BP. eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease. Curr Opin Ophthalmol 2012; 23:355-363.
-
(2012)
Curr Opin Ophthalmol
, vol.23
, pp. 355-363
-
-
Goetz, K.E.1
Reeves, M.J.2
Tumminia, S.J.3
Brooks, B.P.4
-
13
-
-
84880169058
-
EyeGENE1: A vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing
-
Blain D, Goetz KE, Ayyagari R, Tumminia SJ. eyeGENE1: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing. Clin Genet 2013; 84:190-197.
-
(2013)
Clin Genet
, vol.84
, pp. 190-197
-
-
Blain, D.1
Goetz, K.E.2
Ayyagari, R.3
Tumminia, S.J.4
-
14
-
-
84897908258
-
Technology: The $1, 000 genome
-
Hayden EC. Technology: the $1, 000 genome. Nature 2014; 507:294-295.
-
(2014)
Nature
, vol.507
, pp. 294-295
-
-
Hayden, E.C.1
-
15
-
-
84865685033
-
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis
-
Chiang PW, Wang J, Chen Y, et al. Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. Nat Genet 2012; 44:972-974.
-
(2012)
Nat Genet
, vol.44
, pp. 972-974
-
-
Chiang, P.W.1
Wang, J.2
Chen, Y.3
-
16
-
-
84905962072
-
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
-
Epub ahead of print]
-
Coppieters F, Van Schil K, Bauwens M, et al. Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. Genet Med 2014. [Epub ahead of print]
-
(2014)
Genet Med
-
-
Coppieters, F.1
Van Schil, K.2
Bauwens, M.3
-
17
-
-
84911978460
-
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia
-
Epub ahead of print]
-
Deml B, Reis LM, Maheshwari M, et al. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. Clin Genet 2014. [Epub ahead of print]
-
(2014)
Clin Genet
-
-
Deml, B.1
Reis, L.M.2
Maheshwari, M.3
-
18
-
-
84892473594
-
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy
-
Ortube MC, Strom SP, Nelson SF, et al. Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. BMC Med Genet 2014; 15:11.
-
(2014)
BMC Med Genet
, vol.15
, pp. 11
-
-
Ortube, M.C.1
Strom, S.P.2
Nelson, S.F.3
-
19
-
-
84905486677
-
Exome sequencingindevelopmentaleye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1
-
Epub ahead of print]
-
Prokudin I, Simons C, Grigg JR, et al. Exome sequencingindevelopmentaleye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. Eur J Hum Genet 2013. [Epub ahead of print]
-
(2013)
Eur J Hum Genet
-
-
Prokudin, I.1
Simons, C.2
Grigg, J.R.3
-
20
-
-
84896318186
-
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B
-
Yu HC, Geiger EA, Medne L, et al. An individual with blepharophimosis- ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. Am J Med Genet A 2014; 164:950-957.
-
(2014)
Am J Med Genet A
, vol.164
, pp. 950-957
-
-
Yu, H.C.1
Geiger, E.A.2
Medne, L.3
-
21
-
-
84878581647
-
Three-year follow-up after unilateral && subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2
-
Testa F, Maguire AM, Rossi S, et al. Three-year follow-up after unilateral && subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. Ophthalmology 2013; 120:1283-1291.
-
(2013)
Ophthalmology
, vol.120
, pp. 1283-1291
-
-
Testa, F.1
Maguire, A.M.2
Rossi, S.3
-
22
-
-
84898640526
-
Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial
-
Koilkonda RD, Yu H, Chou TH, et al. Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial. JAMA Ophthal-mol 2014; 132:409-420.
-
(2014)
JAMA Ophthal-mol
, vol.132
, pp. 409-420
-
-
Koilkonda, R.D.1
Yu, H.2
Chou, T.H.3
-
23
-
-
84883878692
-
Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1
-
Seo S, Mullins RF, Dumitrescu AV, et al. Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. Invest Ophthalmol Vis Sci 2013; 54:6118-6132.
-
(2013)
Invest Ophthalmol Vis Sci
, vol.54
, pp. 6118-6132
-
-
Seo, S.1
Mullins, R.F.2
Dumitrescu, A.V.3
|