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Gavin Arno

Showing results (91-100 of 185) with videos related to

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Investigative Ophthalmology & Visual Science|November 15, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis PigmentosaGaluh D N Astuti, Gavin Arno, Sarah Hull, et al.
JAMA Ophthalmology|September 26, 2024
Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal DystrophiesEhsan Ullah, Siying Lin, Jiaxiong Lu, et al.
Human Mutation|February 3, 2019
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophyRaquel S Silva, Gavin Arno, Valentina Cipriani, et al.
American Journal of Ophthalmology|October 8, 2023
RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep PhenotypingMichalis Georgiou, Kaoru Fujinami, Anthony G Robson, et al.
HGG Advances|April 19, 2025
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophiesDalila Capasso, Roberta Zeuli, Gavin Arno, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal DegenerationGavin Arno, Keren J Carss, Sarah Hull, et al.
Investigative Ophthalmology & Visual Science|October 23, 2018
Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR GeneRola Ba-Abbad, Monique Leys, Xinjing Wang, et al.
Ophthalmology|April 28, 2019
Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1Kaoru Fujinami, Lizhu Yang, Kwangsic Joo, et al.
Journal of Medical Genetics|October 28, 2017
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseasesJamie M Ellingford, Bradley Horn, Christopher Campbell, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 22, 2020
Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese populationKaoru Fujinami, Akio Oishi, Lizhu Yang, et al.
Pageof 19

Showing results (91-100 of 185) with videos related to

Sort By:
Pageof 19
Investigative Ophthalmology & Visual Science|November 15, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis PigmentosaGaluh D N Astuti, Gavin Arno, Sarah Hull, et al.
JAMA Ophthalmology|September 26, 2024
Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal DystrophiesEhsan Ullah, Siying Lin, Jiaxiong Lu, et al.
Human Mutation|February 3, 2019
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophyRaquel S Silva, Gavin Arno, Valentina Cipriani, et al.
American Journal of Ophthalmology|October 8, 2023
RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep PhenotypingMichalis Georgiou, Kaoru Fujinami, Anthony G Robson, et al.
HGG Advances|April 19, 2025
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophiesDalila Capasso, Roberta Zeuli, Gavin Arno, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal DegenerationGavin Arno, Keren J Carss, Sarah Hull, et al.
Investigative Ophthalmology & Visual Science|October 23, 2018
Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR GeneRola Ba-Abbad, Monique Leys, Xinjing Wang, et al.
Ophthalmology|April 28, 2019
Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1Kaoru Fujinami, Lizhu Yang, Kwangsic Joo, et al.
Journal of Medical Genetics|October 28, 2017
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseasesJamie M Ellingford, Bradley Horn, Christopher Campbell, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 22, 2020
Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese populationKaoru Fujinami, Akio Oishi, Lizhu Yang, et al.
Pageof 19