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Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype

Ophthalmology (Rochester, Minn.), 2014-09, Vol.121 (9), p.1773-1782

2014

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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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New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy

JAMA ophthalmology, 2015-02, Vol.133 (2), p.133

2015

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New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11

Human molecular genetics, 2014-11, Vol.23 (21), p.5774-5780

2014

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Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation

Investigative ophthalmology & visual science, 2016-06, Vol.57 (7), p.3409-3415

2016

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Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy

Ophthalmic genetics, 2015-01, Vol.36 (3), p.270-275

2015

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Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes

Human genetics, 2016-01, Vol.135 (1), p.9-19

2016

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In search of the crystal ball - how many eggs to a live birth? a 2-step prediction model for egg freezing counseling based on individual patient and center data

Fertility and sterility, 2019-09, Vol.112 (3), p.e83-e84

2019

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Genetics of ABCA4-associated diseases and retinitis pigmentosa

Xie, Yajing Angela

2016

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Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy

Ophthalmic Genetics, 2015, Vol.36 (3), p.270-275

2015

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Adult
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Mutation
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Adolescent
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Genetics & Heredity
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Macular Degeneration - Genetics
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Child
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Electroretinography
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Ophthalmology
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Young Adult
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Atp-Binding Cassette Transporters - Genetics
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Bull's Eye Maculopathy
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Dna Mutational Analysis
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Eye Proteins - Genetics
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Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype

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

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11

Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy

Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes

In search of the crystal ball - how many eggs to a live birth? a 2-step prediction model for egg freezing counseling based on individual patient and center data

Genetics of ABCA4-associated diseases and retinitis pigmentosa

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy

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