4.7 Article

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

Suzanne C. E. H. Sallevelt et al.

Summary: The study found that exome sequencing-based preconception carrier testing can effectively identify the carrier status of AR diseases in consanguineous couples and provide significant reproductive choices for a higher proportion of these couples.

GENETICS IN MEDICINE (2021)

Article Ophthalmology

ABCA4-Associated Stargardt Disease

Mubeen Khan et al.

KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE (2020)

Review Ophthalmology

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

Frans P. M. Cremers et al.

PROGRESS IN RETINAL AND EYE RESEARCH (2020)

Article Ophthalmology

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease

Esmee H. Runhart et al.

JAMA OPHTHALMOLOGY (2020)

Review Genetics & Heredity

The evolving landscape of expanded carrier screening: challenges and opportunities

Stephanie A. Kraft et al.

GENETICS IN MEDICINE (2019)

Article Ophthalmology

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles

Esmee H. Runhart et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2019)

Article Medicine, Research & Experimental

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes

Jana Zernant et al.

COLD SPRING HARBOR MOLECULAR CASE STUDIES (2018)

Letter Ophthalmology

Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease

Frans P. M. Cremers et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2018)

Article Genetics & Heredity

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases

Stephanie S. Cornelis et al.

HUMAN MUTATION (2017)

Article Ophthalmology

Progression of Late-Onset Stargardt Disease

Stanley Lambertus et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2016)

Article Genetics & Heredity

Re-Evaluation Casts Doubt on the Pathogenicity of Homozygous USH2A p.C759F

Maria Gonzalez-del Pozo et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)

Article Ophthalmology

Early-Onset Stargardt Disease Phenotypic and Genotypic Characteristics

Stanley Lambertus et al.

OPHTHALMOLOGY (2015)

Article Ophthalmology

Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

Kaoru Fujinami et al.

OPHTHALMOLOGY (2015)

Article Biochemistry & Molecular Biology

The Genome of the Netherlands: design, and project goals

Dorret I. Boomsma et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2014)

Article Biochemistry & Molecular Biology

Analysis of the ABCA4 genomic locus in Stargardt disease

Jana Zernant et al.

HUMAN MOLECULAR GENETICS (2014)

Article Biochemistry & Molecular Biology

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

Terry A. Braun et al.

HUMAN MOLECULAR GENETICS (2013)

Article Ophthalmology

Clinical and Genetic Characteristics of Late-onset Stargardt's Disease

Sarah C. Westeneng-van Haaften et al.

OPHTHALMOLOGY (2012)

Article Genetics & Heredity

Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier

Alexandre Hinzpeter et al.

PLOS GENETICS (2010)

Article Ophthalmology

A Novel Nonsense Mutation in CEP290 Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype

Karin W. Littink et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)

Article Biochemistry & Molecular Biology

ABCA4 disease progression and a proposed strategy for gene therapy

Artur V. Cideciyan et al.

HUMAN MOLECULAR GENETICS (2009)

Article Genetics & Heredity

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene

K Jaakson et al.

HUMAN MUTATION (2003)