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Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

Clinical genetics, 2014-09, Vol.86 (3), p.220-228

2014

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Ocular coloboma: a reassessment in the age of molecular neuroscience

Journal of Medical Genetics, 2004-12, Vol.41 (12), p.881-891

2004

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Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21

American journal of medical genetics, 2004-11, Vol.131A (1), p.86-90

2004

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Retina Restored and Brain Abnormalities Ameliorated by Single-Copy Knock-In of Human NR2E1 in Null Mice

Molecular and Cellular Biology, 2012-04, Vol.32 (7), p.1296-1311

2012

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Rip3 knockdown rescues photoreceptor cell death in blind pde6c zebrafish

Cell death and differentiation, 2014-05, Vol.21 (5), p.665-675

2014

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Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase

Ophthalmology (Rochester, Minn.), 2000, Vol.107 (1), p.55-61

2000

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Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa

Experimental eye research, 2008-09, Vol.87 (3), p.197-207

2008

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Localization of a Gene ( CORD7) for a Dominant Cone-Rod Dystrophy to Chromosome 6q

American journal of human genetics, 1998-07, Vol.63 (1), p.274-279

1998

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Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene ( CRX) Essential for Maintenance of the Photoreceptor

Cell, 1997-11, Vol.91 (4), p.543-553

1997

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Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD)

Human genetics, 1999-01, Vol.104 (1), p.77-82

1999

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Successful photodynamic therapy for subretinal neovascularisation due to Sorsby’s fundus dystrophy: 1 year follow up

British journal of ophthalmology, 2003-06, Vol.87 (6), p.796-797

2003

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Mapping of human interferon regulatory factor 3 (IRF3) to chromosome 19q13.3–13.4 by an intragenic polymorphic marker

Annals of human genetics, 1998-05, Vol.62 (3), p.231-234

1998

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Abnormal cone synapses in human cone-rod dystrophy

Ophthalmology (Rochester, Minn.), 1998-12, Vol.105 (12), p.2306-2312

1998

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Molecular genetic heterogeneity in autosomal dominant drusen

Journal of medical genetics, 2001-06, Vol.38 (6), p.381-384

2001

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Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development

Human molecular genetics, 2001-07, Vol.10 (15), p.1571-1579

2001

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De novo mutations in the 5′ regulatory region of the Norrie disease gene in retinopathy of prematurity

Journal of medical genetics, 2001-12, Vol.38 (12), p.e46-46

2001

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Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease

Human molecular genetics, 2008-12, Vol.17 (24), p.3987-4000

2008

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Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

American journal of human genetics, 2004-04, Vol.74 (4), p.721-730

2004

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Sorsby fundus dystrophy presenting with choroidal neovascularisation showing good response to steroid treatment

British journal of ophthalmology, 2004-03, Vol.88 (3), p.440-441

2004

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SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

Human molecular genetics, 2007-10, Vol.16 (20), p.2482-2493

2007

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Sequence and Tissue Expression of a Novel Human Carbonic Anhydrase-Related Protein, CARP-2, Mapping to Chromosome 19q13.3

Biochemical and biophysical research communications, 1998-12, Vol.253 (2), p.364-367

1998

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Cloning and Characterization of a Novel Orphan G-Protein-Coupled Receptor Localized to Human Chromosome 2p16

Biochemical and biophysical research communications, 1999-06, Vol.260 (1), p.174-180

1999

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Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma

Molecular vision, 2011, Vol.17, p.1473-1484

2011

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Microsatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3

Journal of medical genetics, 1998-06, Vol.35 (6), p.527-527

1998

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Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

Ocular coloboma: a reassessment in the age of molecular neuroscience

Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21

Retina Restored and Brain Abnormalities Ameliorated by Single-Copy Knock-In of Human NR2E1 in Null Mice

Rip3 knockdown rescues photoreceptor cell death in blind pde6c zebrafish

Neuropilin-1 is upregulated in the adaptive response of prostate tumors to androgen-targeted therapies and is prognostic of metastatic progression and patient mortality

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase

Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa

Localization of a Gene ( CORD7) for a Dominant Cone-Rod Dystrophy to Chromosome 6q

Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene ( CRX) Essential for Maintenance of the Photoreceptor

Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD)

Successful photodynamic therapy for subretinal neovascularisation due to Sorsby’s fundus dystrophy: 1 year follow up

Mapping of human interferon regulatory factor 3 (IRF3) to chromosome 19q13.3–13.4 by an intragenic polymorphic marker

Abnormal cone synapses in human cone-rod dystrophy

Molecular genetic heterogeneity in autosomal dominant drusen

Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development

De novo mutations in the 5′ regulatory region of the Norrie disease gene in retinopathy of prematurity

Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease

Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

Sorsby fundus dystrophy presenting with choroidal neovascularisation showing good response to steroid treatment

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

Sequence and Tissue Expression of a Novel Human Carbonic Anhydrase-Related Protein, CARP-2, Mapping to Chromosome 19q13.3

Cloning and Characterization of a Novel Orphan G-Protein-Coupled Receptor Localized to Human Chromosome 2p16

Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma

Microsatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3

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