-
1
-
-
77956503700
-
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
-
Schindler, E.I., Nylen, E.L., Ko, A.C., Affatigato, L.M., Heggen, A.C., Wang, K., Sheffield, V.C. and Stone, E.M. (2010) Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population. Hum. Mol. Genet., 19, 3693-3701.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 3693-3701
-
-
Schindler, E.I.1
Nylen, E.L.2
Ko, A.C.3
Affatigato, L.M.4
Heggen, A.C.5
Wang, K.6
Sheffield, V.C.7
Stone, E.M.8
-
3
-
-
0033538438
-
Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice
-
Weng, J., Mata, N.L., Azarian, S.M., Tzekov, R.T., Birch, D.G. and Travis, G.H. (1999) Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell, 98, 13-23.
-
(1999)
Cell
, vol.98
, pp. 13-23
-
-
Weng, J.1
Mata, N.L.2
Azarian, S.M.3
Tzekov, R.T.4
Birch, D.G.5
Travis, G.H.6
-
4
-
-
84863304501
-
ABCA4 Is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer
-
Quazi, F., Lenevich, S. and Molday, R.S. (2012) ABCA4 Is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer. Nat. Commun., 3, 925.
-
(2012)
Nat. Commun.
, vol.3
, pp. 925
-
-
Quazi, F.1
Lenevich, S.2
Molday, R.S.3
-
5
-
-
52049107645
-
Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy
-
Kong, J., Kim, S.R., Binley, K., Pata, I., Doi, K., Mannik, J., Zernant-Rajang, J., Kan, O., Iqball, S., Naylor, S. et al. (2008) Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy. Gene. Ther., 15, 1311-1320.
-
(2008)
Gene. Ther.
, vol.15
, pp. 1311-1320
-
-
Kong, J.1
Kim, S.R.2
Binley, K.3
Pata, I.4
Doi, K.5
Mannik, J.6
Zernant-Rajang, J.7
Kan, O.8
Iqball, S.9
Naylor, S.10
-
6
-
-
0035032384
-
Ananalysis of allelic variation in the ABCA4 gene
-
Webster, A.R., Heon, E., Lotery, A.J., Vandenburgh, K., Casavant, T.L., Oh, K.T., Beck, G., Fishman, G.A., Lam, B.L., Levin, A. et al. (2001)Ananalysis of allelic variation in the ABCA4 gene. Invest. Ophthalmol. Vis. Sci., 42, 1179-1189.
-
(2001)
Invest. Ophthalmol. Vis. Sci.
, vol.42
, pp. 1179-1189
-
-
Webster, A.R.1
Heon, E.2
Lotery, A.J.3
Vandenburgh, K.4
Casavant, T.L.5
Oh, K.T.6
Beck, G.7
Fishman, G.A.8
Lam, B.L.9
Levin, A.10
-
7
-
-
84856077133
-
Analysis of the ABCA4 gene by next-generation sequencing
-
Zernant, J., Schubert, C., Im, K.M., Burke, T., Brown, C.M., Fishman, G.A., Tsang, S.H., Gouras, P., Dean, M. and Allikmets, R. (2011) Analysis of the ABCA4 gene by next-generation sequencing. Invest. Ophthalmol. Vis Sci., 52, 8479-8487.
-
(2011)
Invest. Ophthalmol. Vis Sci.
, vol.52
, pp. 8479-8487
-
-
Zernant, J.1
Schubert, C.2
Im, K.M.3
Burke, T.4
Brown, C.M.5
Fishman, G.A.6
Tsang, S.H.7
Gouras, P.8
Dean, M.9
Allikmets, R.10
-
8
-
-
12744263064
-
Comparison of splice sites in mammals and chicken
-
Abril, J.F., Castelo, R. and Guigo, R. (2005) Comparison of splice sites in mammals and chicken. Genome Res., 15, 111-119.
-
(2005)
Genome Res.
, vol.15
, pp. 111-119
-
-
Abril, J.F.1
Castelo, R.2
Guigo, R.3
-
9
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Abecasis, G.R., Auton, A., Brooks, L.D., DePristo, M.A., Durbin, R.M., Handsaker, R.E., Kang, H.M., Marth, G.T. and McVean, G.A. (2012) An integrated map of genetic variation from 1,092 human genomes. Nature, 491, 56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
DePristo, M.A.4
Durbin, R.M.5
Handsaker, R.E.6
Kang, H.M.7
Marth, G.T.8
McVean, G.A.9
-
10
-
-
67649884743
-
Fast and accurate short read alignment with burrows-wheeler transform
-
Li, H. and Durbin, R. (2009) Fast and accurate short read alignment with burrows-wheeler transform. Bioinformatics, 25, 1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
11
-
-
77956295988
-
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M. et al. (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res., 20, 1297-1303.
-
(2010)
Genome Res.
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
Garimella, K.7
Altshuler, D.8
Gabriel, S.9
Daly, M.10
-
12
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Abecasis, G.R., Altshuler, D., Auton, A., Brooks, L.D., Durbin, R.M., Gibbs, R.A., Hurles, M.E. and McVean, G.A. (2010) A map of human genome variation from population-scale sequencing. Nature, 467, 1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Abecasis, G.R.1
Altshuler, D.2
Auton, A.3
Brooks, L.D.4
Durbin, R.M.5
Gibbs, R.A.6
Hurles, M.E.7
McVean, G.A.8
-
13
-
-
84866873915
-
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy
-
Duno, M., Schwartz, M., Larsen, P.L. and Rosenberg, T. (2012) Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy. Ophthalmic Genet., 33, 225-231.
-
(2012)
Ophthalmic Genet.
, vol.33
, pp. 225-231
-
-
Duno, M.1
Schwartz, M.2
Larsen, P.L.3
Rosenberg, T.4
-
14
-
-
0033071210
-
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in stargardt disease
-
Lewis, R.A., Shroyer, N.F., Singh, N., Allikmets, R., Hutchinson, A., Li, Y., Lupski, J.R., Leppert, M.and Dean, M.(1999) Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in stargardt disease. Am. J. Hum. Genet., 64, 422-434.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 422-434
-
-
Lewis, R.A.1
Shroyer, N.F.2
Singh, N.3
Allikmets, R.4
Hutchinson, A.5
Li, Y.6
Lupski, J.R.7
Leppert, M.8
Dean, M.9
-
15
-
-
60549112570
-
ABCA4 Disease progression and a proposed strategy for gene therapy
-
Cideciyan, A.V., Swider, M., Aleman, T.S., Tsybovsky, Y., Schwartz, S.B., Windsor, E.A., Roman, A.J., Sumaroka, A., Steinberg, J.D., Jacobson, S.G. et al. (2009) ABCA4 Disease progression and a proposed strategy for gene therapy. Hum. Mol. Genet., 18, 931-941.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 931-941
-
-
Cideciyan, A.V.1
Swider, M.2
Aleman, T.S.3
Tsybovsky, Y.4
Schwartz, S.B.5
Windsor, E.A.6
Roman, A.J.7
Sumaroka, A.8
Steinberg, J.D.9
Jacobson, S.G.10
-
16
-
-
33846965253
-
Molecular testing for hereditary retinal disease as part of clinical care
-
Downs, K., Zacks, D.N., Caruso, R., Karoukis, A.J., Branham, K., Yashar, B.M., Haimann, M.H., Trzupek, K., Meltzer, M., Blain, D. et al. (2007) Molecular testing for hereditary retinal disease as part of clinical care. Arch. Ophthalmol., 125, 252-258.
-
(2007)
Arch. Ophthalmol.
, vol.125
, pp. 252-258
-
-
Downs, K.1
Zacks, D.N.2
Caruso, R.3
Karoukis, A.J.4
Branham, K.5
Yashar, B.M.6
Haimann, M.H.7
Trzupek, K.8
Meltzer, M.9
Blain, D.10
-
17
-
-
33748664605
-
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
-
den Hollander, A.I., Koenekoop, R.K., Yzer, S., Lopez, I., Arends, M.L., Voesenek, K.E., Zonneveld, M.N., Strom, T.M., Meitinger, T., Brunner, H.G. et al. (2006) Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am. J. Hum. Genet., 79, 556-561.
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 556-561
-
-
Den Hollander, A.I.1
Koenekoop, R.K.2
Yzer, S.3
Lopez, I.4
Arends, M.L.5
Voesenek, K.E.6
Zonneveld, M.N.7
Strom, T.M.8
Meitinger, T.9
Brunner, H.G.10
-
18
-
-
84857691632
-
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy
-
Vache, C., Besnard, T., le Berre, P., Garcia-Garcia, G., Baux, D., Larrieu, L., Abadie, C., Blanchet, C., Bolz, H.J., Millan, J. et al. (2012) Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Hum. Mutat., 33, 104-108.
-
(2012)
Hum. Mutat.
, vol.33
, pp. 104-108
-
-
Vache, C.1
Besnard, T.2
Le Berre, P.3
Garcia-Garcia, G.4
Baux, D.5
Larrieu, L.6
Abadie, C.7
Blanchet, C.8
Bolz, H.J.9
Millan, J.10
-
19
-
-
14844341770
-
Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb
-
Sagai, T., Hosoya, M., Mizushina, Y., Tamura, M. and Shiroishi, T. (2005) Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb. Development, 132, 797-803.
-
(2005)
Development
, vol.132
, pp. 797-803
-
-
Sagai, T.1
Hosoya, M.2
Mizushina, Y.3
Tamura, M.4
Shiroishi, T.5
-
20
-
-
58149463874
-
Chromosomal dynamics at the Shh locus: limb bud-specific differential regulation of competence and active transcription
-
Amano, T., Sagai, T., Tanabe, H., Mizushina, Y., Nakazawa, H. and Shiroishi, T. (2009) Chromosomal dynamics at the Shh locus: limb bud-specific differential regulation of competence and active transcription. Dev. Cell, 16, 47-57.
-
(2009)
Dev. Cell
, vol.16
, pp. 47-57
-
-
Amano, T.1
Sagai, T.2
Tanabe, H.3
Mizushina, Y.4
Nakazawa, H.5
Shiroishi, T.6
-
21
-
-
16644392240
-
Isolation, characterization, and culture of epithelial stem cells
-
Bickenbach, J.R. (2005) Isolation, characterization, and culture of epithelial stem cells. Methods Mol. Biol., 289, 97-102.
-
(2005)
Methods Mol. Biol.
, vol.289
, pp. 97-102
-
-
Bickenbach, J.R.1
|