Usher Syndrome
What's New
Last Posted: Apr 04, 2023
- The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Beatrice Spedicati et al. Biomedicines 2023 11(3) - Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Janine Reurink et al. HGG advances 2023 4(2) 100181 - Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation.
Elander Johanna et al. International journal of pediatric otorhinolaryngology 2022 159111218 - Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study.
Reis Cláudia Sousa et al. Cytogenetic and genome research 2022 1-9 - Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Iannaccone Alessandro et al. American journal of medical genetics. Part A 2021 - 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 - Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Shah Mital et al. Ophthalmic genetics 2020 Jun 1-7 - Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez Leslie P et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2020 Apr 41(4) 431-437 - Genetic Screening of the Usher Syndrome in Cuba.
Santana Elayne E et al. Frontiers in genetics 2019 10501 - Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Jouret Guillaume et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019 Jan 40(1) 121-129
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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
- Page last updated:May 03, 2024
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