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Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

Ophthalmology (Rochester, Minn.), 2015-02, Vol.122 (2), p.326-334

2015

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Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

American journal of human genetics, 2009-11, Vol.85 (5), p.711-719

2009

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Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

American journal of human genetics, 2008-01, Vol.82 (1), p.19-31

2008

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Phenotypic Variability in RDH5 Retinopathy (Fundus Albipunctatus)

Ophthalmology (Rochester, Minn.), 2011-08, Vol.118 (8), p.1661-1670

2011

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IQCB1 (NPHP5)-retinopathy: Clinical and Genetic Characterization and Natural History

American journal of ophthalmology, 2024-03

2024

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Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly

American journal of ophthalmology, 2019-11, Vol.207, p.87-98

2019

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RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

Human mutation, 2013-03, Vol.34 (3), p.506-514

2013

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ABCA4 gene screening by next-generation sequencing in a British cohort

Investigative ophthalmology & visual science, 2013-10, Vol.54 (10), p.6662-6674

2013

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Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)

Investigative ophthalmology & visual science, 2012-05, Vol.53 (6), p.2873-2879

2012

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Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy

Ophthalmology retina, 2020-04, Vol.4 (4), p.433-445

2020

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RDH12 retinopathy: novel mutations and phenotypic description

Molecular vision, 2011-10, Vol.17, p.2706-2716

2011

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A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls

Investigative ophthalmology & visual science, 2011-03, Vol.52 (3), p.1880-1886

2011

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A Phenotype–Genotype Correlation Study of X-Linked Retinoschisis

Ophthalmology (Rochester, Minn.), 2013-07, Vol.120 (7), p.1454-1464

2013

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Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2

British journal of ophthalmology, 2012-05, Vol.96 (5), p.719-722

2012

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Clinicopathological Case Series of Four Patients with Inherited Macular Disease

Investigative ophthalmology & visual science, 2009-08, Vol.50 (8), p.3553-3561

2009

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A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)

Advances in experimental medicine and biology, 2012, Vol.723, p.595

2012

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X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins

American journal of human genetics, 2010-07, Vol.87 (1), p.26-39

2010

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Open access resources for genome-wide association mapping in rice

Nature communications, 2016-02, Vol.7 (1), p.10532-10532, Article 10532

2016

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Psychedelics reopen the social reward learning critical period

Nature (London), 2023-06, Vol.618 (7966), p.790-798

2023

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Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

Ophthalmology (Rochester, Minn.), 2020-10, Vol.127 (10), p.1384-1394

2020

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Changes in environmental and engineered conditions alter the plasma membrane lipidome of fractured shale bacteria

Microbiology spectrum, 2024-01, Vol.12 (1), p.e0233423-e0233423

2024

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Expanding the social cure: a mixed-methods approach exploring the role of online group dance as support for young people (aged 16–24) living with anxiety

Frontiers in psychology, 2023-10, Vol.14, p.1258967-1258967

2023

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Facilitating design thinking: A comparison of design expertise

Thinking skills and creativity, 2018-03, Vol.27 (March 2018), p.177-189

2018

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Five‐Year Outcome of Operative and Nonoperative Management of Meniscal Tear in Persons Older Than Forty‐Five Years

Arthritis & rheumatology (Hoboken, N.J.), 2020-02, Vol.72 (2), p.273-281

2020

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Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Phenotypic Variability in RDH5 Retinopathy (Fundus Albipunctatus)

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy

IQCB1 (NPHP5)-retinopathy: Clinical and Genetic Characterization and Natural History

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

ABCA4 gene screening by next-generation sequencing in a British cohort

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)

Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy

RDH12 retinopathy: novel mutations and phenotypic description

A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls

A Phenotype–Genotype Correlation Study of X-Linked Retinoschisis

Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2

Clinicopathological Case Series of Four Patients with Inherited Macular Disease

A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)

X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins

Open access resources for genome-wide association mapping in rice

Psychedelics reopen the social reward learning critical period

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

Changes in environmental and engineered conditions alter the plasma membrane lipidome of fractured shale bacteria

Expanding the social cure: a mixed-methods approach exploring the role of online group dance as support for young people (aged 16–24) living with anxiety

Facilitating design thinking: A comparison of design expertise

Five‐Year Outcome of Operative and Nonoperative Management of Meniscal Tear in Persons Older Than Forty‐Five Years

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