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The evolution of irradiance detection: melanopsin and the non-visual opsins

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2009-10, Vol.364 (1531), p.2849

2009

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Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

Ophthalmology (Rochester, Minn.), 2014-06, Vol.121 (6), p.1174-1184

2014

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Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors

Human molecular genetics, 2019-03, Vol.28 (5), p.804-817

2019

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Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data

Bioinformatics (Oxford, England), 2017-08, Vol.33 (15), p.2421-2423

2017

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The hypothalamic photoreceptors regulating seasonal reproduction in birds: A prime role for VA opsin

Frontiers in neuroendocrinology, 2015-04, Vol.37, p.13-28

2015

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An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story

Genes, 2021-08, Vol.12 (8), p.1241

2021

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VA Opsin-Based Photoreceptors in the Hypothalamus of Birds

Current biology, 2009-08, Vol.19 (16), p.1396-1402

2009

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Large-Scale Association Studies of Variants in Genes Encoding the Pancreatic β-Cell KATP Channel Subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) Confirm That the KCNJ11 E23K Variant Is Associated With Type 2 Diabetes

Diabetes (New York, N.Y.), 2003-02, Vol.52 (2), p.568-572

2003

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A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation

Genes, 2023-05, Vol.14 (6), p.1193

2023

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Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients

Genes, 2020-11, Vol.11 (11), p.1

2020

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Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy

Scientific reports, 2016-05, Vol.6 (1), p.23674-23674, Article 23674

2016

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Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy

Vision (Basel), 2023-03, Vol.7 (1), p.18

2023

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Differential Expression of Two Distinct Functional Isoforms of Melanopsin (Opn4) in the Mammalian Retina

The Journal of neuroscience, 2009-09, Vol.29 (39), p.12332-12342

2009

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Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report

BMC ophthalmology, 2021-04, Vol.21 (1), p.168-168, Article 168

2021

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Vertebrate ancient opsin photopigment spectra and the avian photoperiodic response

Biology letters (2005), 2012-04, Vol.8 (2), p.291-294

2012

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Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

Genes, 2022-08, Vol.13 (8), p.1423

2022

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Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

Genes, 2020-12, Vol.11 (12), p.1497

2020

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Differential expression of melanopsin isoforms Opn4L and Opn4S during postnatal development of the mouse retina

PloS one, 2012-04, Vol.7 (4), p.e34531-e34531

2012

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Unravelling the genetics of inherited retinal dystrophies: Past, present and future

Progress in retinal and eye research, 2017-07, Vol.59, p.53-96

2017

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Isolation and characterization of melanopsin (Opn4) from the Australian marsupial Sminthopsis crassicaudata (fat-tailed dunnart)

Proceedings of the Royal Society. B, Biological sciences, 2007-11, Vol.274 (1627), p.2791

2007

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Isolation and characterization of murine Cds ( CDP-diacylglycerol synthase) 1 and 2

Gene, 2005-08, Vol.356, p.19-31

2005

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Diabetic macular oedema: under‐represented in the genetic analysis of diabetic retinopathy

Acta ophthalmologica (Oxford, England), 2018-04, Vol.96 (A111), p.1-51

2018

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Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

American journal of human genetics, 2017-04, Vol.100 (4), p.592-604

2017

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Association Studies of Insulin Receptor Substrate 1 Gene (IRS1) Variants in Type 2 Diabetes Samples Enriched for Family History and Early Age of Onset

Diabetes (New York, N.Y.), 2004-12, Vol.53 (12), p.3319-3322

2004

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Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations

JAMA ophthalmology, 2020-05, Vol.138 (5), p.544

2020

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The evolution of irradiance detection: melanopsin and the non-visual opsins

Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data

The hypothalamic photoreceptors regulating seasonal reproduction in birds: A prime role for VA opsin

An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story

VA Opsin-Based Photoreceptors in the Hypothalamus of Birds

Large-Scale Association Studies of Variants in Genes Encoding the Pancreatic β-Cell KATP Channel Subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) Confirm That the KCNJ11 E23K Variant Is Associated With Type 2 Diabetes

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients

Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy

Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy

Differential Expression of Two Distinct Functional Isoforms of Melanopsin (Opn4) in the Mammalian Retina

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report

Vertebrate ancient opsin photopigment spectra and the avian photoperiodic response

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

Differential expression of melanopsin isoforms Opn4L and Opn4S during postnatal development of the mouse retina

Unravelling the genetics of inherited retinal dystrophies: Past, present and future

Isolation and characterization of melanopsin (Opn4) from the Australian marsupial Sminthopsis crassicaudata (fat-tailed dunnart)

Isolation and characterization of murine Cds ( CDP-diacylglycerol synthase) 1 and 2

Diabetic macular oedema: under‐represented in the genetic analysis of diabetic retinopathy

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Association Studies of Insulin Receptor Substrate 1 Gene (IRS1) Variants in Type 2 Diabetes Samples Enriched for Family History and Early Age of Onset

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations

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