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The Location of Exon 4 Mutations in RP1 Raises Challenges for Genetic Counseling and Gene Therapy

American journal of ophthalmology, 2019-06, Vol.202, p.23-29

2019

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Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy

Cerebellum (London, England), 2020-02, Vol.19 (1), p.161-163

2020

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Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

American journal of human genetics, 2017-09, Vol.101 (3), p.451-458

2017

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"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS"

Eye (London), 2021-05, Vol.35 (5), p.1440-1449

2021

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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Nature communications, 2023-02, Vol.14 (1), p.853-853, Article 853

2023

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Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing their Potential for Retinal Gene Therapy

Genes, 2018-12, Vol.9 (12), p.643

2018

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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

American journal of human genetics, 2017-01, Vol.100 (1), p.138-150

2017

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Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

European journal of human genetics : EJHG, 2013-03, Vol.21 (3), p.274-280

2013

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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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Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy

American journal of ophthalmology case reports, 2022-12, Vol.28, p.101698, Article 101698

2022

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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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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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Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes

Ocular immunology and inflammation, 2019-07, Vol.27 (5), p.693-698

2019

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Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa

JAMA ophthalmology, 2020-11, Vol.138 (11), p.1151

2020

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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

Nucleic acids research, 2007-03, Vol.35 (6), p.2013

2007

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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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Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose

JAMA ophthalmology, 2020-02, Vol.138 (2), p.128

2020

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A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p. in IRS1/I, and Skewed X-Inactivation

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

2023

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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

American journal of human genetics, 2016-05, Vol.98 (5), p.981-992

2016

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Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases

Ophthalmic genetics, 2020-07, Vol.41 (4), p.331-337

2020

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A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia

Ophthalmic genetics, 2018-04, Vol.39 (2), p.263-267

2018

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

Movement disorders, 2024-01, Vol.39 (1), p.141-151

2024

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Presence of corneal crystals confirms an unusual presentation of Bietti's retinal dystrophy

Ophthalmic genetics, 2019-10, Vol.40 (5), p.461-465

2019

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MERTK missense variants in three patients with retinitis pigmentosa

Ophthalmic genetics, 2023-02, Vol.44 (1), p.74-82

2023

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The Location of Exon 4 Mutations in RP1 Raises Challenges for Genetic Counseling and Gene Therapy

Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS"

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing their Potential for Retinal Gene Therapy

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

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

Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy

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

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

Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes

Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations

Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p. in IRS1/I, and Skewed X-Inactivation

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases

A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

Presence of corneal crystals confirms an unusual presentation of Bietti's retinal dystrophy

MERTK missense variants in three patients with retinitis pigmentosa

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