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The Lancet. Digital Health|January 31, 2025
Prevalence and demographics of 331 rare diseases and associated COVID-19-related mortality among 58 million individuals: a nationwide retrospective observational studyJohan H Thygesen, Huayu Zhang, Hanane Issa, et al.
Plos Genetics|June 25, 2015
Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine MappingChris Wallace, Antony J Cutler, Nikolas Pontikos, et al.
Scientific Reports|June 14, 2020
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype AssociationYu Fujinami-Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi, et al.
The British Journal of Ophthalmology|May 9, 2025
Inherited retinal disease pathway in the UK: a patient perspective and the potential of AIWendy Wong, Dayyanah Sumodhee, Tiyi Morris, et al.
JAMA Ophthalmology|March 3, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal DystrophyRachel L Taylor, Gavin Arno, James A Poulter, et al.
Plos Genetics|May 7, 2024
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseaseNihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, et al.
Translational Vision Science & Technology|August 22, 2020
Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal DisorderXiao Liu, Kaoru Fujinami, Kazuki Kuniyoshi, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 11, 2018
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variantsHemanth Tummala, Arran D Dokal, Amanda Walne, et al.
Ophthalmology Science|July 31, 2025
Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal DiseasesGunjan Naik, Saoud Al-Khuzaei, Ismail Moghul, et al.
Scientific Reports|March 29, 2020
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele FrequencyLizhu Yang, Kaoru Fujinami, Shinji Ueno, et al.
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