Stargardt Disease
What's New
Last Posted: Apr 30, 2024
- Artificial Intelligence (AI) for Early Diagnosis of Retinal Diseases.
Uday Pratap Singh Parmar et al. Medicina (Kaunas) 2024 60(4) - Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Tamar Ben Yosef et al. Mol Vis 2023 291-12 - Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese Paolo Enrico et al. Frontiers in genetics 2022 13914345 - Clinical Observation and Genotype-Phenotype analysis of ABCA4- related Hereditary retinal degeneration before Gene Therapy.
Xiao Xuan et al. Current gene therapy 2022 - Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Del Pozo-Valero Marta et al. Investigative ophthalmology & visual science 2022 63(2) 11 - Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques.
Fujinami-Yokokawa Yu et al. The British journal of ophthalmology 2021 - Deep Learning-Based Classification of Inherited Retinal Diseases Using Fundus Autofluorescence.
Miere Alexandra et al. Journal of clinical medicine 2020 Oct 9(10) - Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.
Goetz Kerry E et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Sep - Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation.
Mansfield Brian C et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug e31825 - Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
Khan Mubeen et al. Human mutation 2019 40(10) 1749-1759
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Content source: