Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients

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

(2020) Frans P.M. Cremers et al.   PROGRESS IN RETINAL AND EYE RESEARCH

RP1L1 and Inherited Photoreceptor Disease: A Review

(2020) Nicole C.L. Noel et al.   SURVEY OF OPHTHALMOLOGY

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

(2020) Jasmina Cehajic-Kapetanovic et al.   JAMA Ophthalmology

Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration

(2019) Zhaojing Lu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients

(2019) Tsz Kin Ng et al.   Scientific Reports

NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene

(2019) Claudia Strafella et al.   Genes

Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients

(2019) Maan Abdullah Albarry et al.   OPHTHALMIC GENETICS

A clinical and molecular characterisation of CRB1-associated maculopathy

(2018) Kamron N. Khan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

(2018) Johannes Birtel et al.   Scientific Reports

Stargardt disease-associated mutation spectrum of a Russian Federation cohort

(2017) Inna V. Zolnikova et al.   European Journal of Medical Genetics

Novel therapeutics for Stargardt disease

(2017) Louise J. Lu et al.   GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy

(2017) Saber Imani et al.   Oncotarget

Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family

(2017) Yu-He Qi et al.   Frontiers in Genetics

Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa

(2016) SANMEI LIU et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Phenotypic observations in “hypotrichosis with juvenile macular dystrophy” (recessive CDH3 mutations)

(2016) Arif O. Khan et al.   OPHTHALMIC GENETICS

Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

(2015) Kaoru Fujinami et al.   OPHTHALMOLOGY

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis

(2015) Wei Xin et al.   PLoS One

Genetic Background and Light-Dependent Progression of Photoreceptor Cell Degeneration in Prominin-1 Knockout Mice

(2014) M. Dellett et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration

(2014) X. Ran et al.   Database-The Journal of Biological Databases and Curation

Differential Phospholipid Substrates and Directional Transport by ATP-binding Cassette Proteins ABCA1, ABCA7, and ABCA4 and Disease-causing Mutants

(2013) Faraz Quazi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

(2013) Marta Corton et al.   PLoS One

Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration

(2012) JUNHUI YI et al.   Molecular Medicine Reports

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

(2012) Sarah C. Westeneng-van Haaften et al.   OPHTHALMOLOGY