Citations (44)
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Rachael C. Heath Jeffery, Johnny Lo, Jennifer A. Thompson, Tina M. Lamey, Terri L. McLaren, John N. DeRoach, Miguel S. Kabilio & Fred K. chen. (2023) Driving with retinitis pigmentosa. Ophthalmic Genetics 44:4, pages 352-360.
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Juanita Pappalardo, Rachael C. Heath Jeffery, Jennifer A. Thompson, Jason Charng, Enid S. Chelva, Ian J. Constable, Terri L. McLaren, Tina M. Lamey, John N. De Roach & Fred K. Chen. (2021) Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family. Ophthalmic Genetics 42:1, pages 62-70.
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Danial Roshandel, Jennifer A. Thompson, Jason Charng, Dan Zhang, Enid Chelva, Sukanya Arunachalam, Mary S. Attia, Tina M. Lamey, Terri L. McLaren, John N. De Roach, David A. Mackey, Steve D. Wilton, Sue Fletcher, Samuel McLenachan & Fred K. Chen. (2021) Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy. Ophthalmic Genetics 42:1, pages 1-14.
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Oscar F. Chacón-Camacho, Leopoldo A. García-Montaño & Juan C Zenteno. (2017) The clinical implications of molecular monitoring and analyses of inherited retinal diseases. Expert Review of Molecular Diagnostics 17:11, pages 1009-1021.
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John (Pei-Wen) Chiang & Michael B Gorin. (2016) Challenges confronting precision medicine in the context of inherited retinal disorders. Expert Review of Precision Medicine and Drug Development 1:2, pages 195-205.
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Articles from other publishers (39)
Chitra Gopinath, Ramya Rompicherla, Grace Priyaranjini Mathias, Rajeshwari Patil, B. Poornachandra, Anand Vinekar, Thirumalesh B. Mochi, Sherine Braganza, K. Bhujang Shetty, Govindasamy Kumaramanickavel & Anuprita Ghosh. (2023) Inherited retinal disorders: a genotype–phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling. Graefe's Archive for Clinical and Experimental Ophthalmology 261:7, pages 2003-2017.
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Amani Albakri, Phattrawan Pisuchpen, Jenina E. Capasso, Adele Schneider, Sarina Kopinsky, Tom Glaser, John P.‐W. Chiang, Anamaria Akapito Yomai, Donna McNear & Alex V. Levin. (2023)
Novel
CRB1
pathogenic variant in
Chuuk
families with
Leber
congenital amaurosis
. American Journal of Medical Genetics Part A 191:4, pages 1007-1012.
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Rachael C. Heath Jeffery, Jennifer A. Thompson, Tina M. Lamey, Terri L. McLaren, John N. De Roach, Ian L. McAllister, Ian J. Constable & Fred K. Chen. (2023) Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy. Ophthalmology Retina 7:1, pages 81-91.
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R. Villafuerte-De la Cruz, O. F. Chacon-Camacho, A. C. Rodriguez-Martinez, N. Xilotl-De Jesus, R. Arce-Gonzalez, C. Rodriguez-De la Torre, J. E. Valdez-Garcia, A. Rojas-Martinez & J. C. Zenteno. (2022) Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1. Frontiers in Genetics 13.
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Rachael C. Heath JefferyJennifer A. ThompsonJohnny LoTina M. LameyTerri L. McLarenJohn N. De RoachDimitar N. AzamanovIan L. McAllisterIan J. ConstableFred K. Chen. (2022) SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE. Retina 42:8, pages 1545-1559.
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Marco Nassisi, Giuseppe De Bartolo, Saddek Mohand-Said, Christel Condroyer, Aline Antonio, Marie-Elise Lancelot, Kinga Bujakowska, Vasily Smirnov, Thomas Pugliese, John Neidhardt, José-Alain Sahel, Christina Zeitz & Isabelle Audo. (2022) Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease. International Journal of Molecular Sciences 23:13, pages 7189.
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Dae Joong Ma. 2022. Inherited Retinal Disease. Inherited Retinal Disease
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Rachael C. Heath Jeffery, Jennifer A. Thompson, Tina M. Lamey, Terri L. McLaren, Ian L. McAllisterIan J. ConstableDavid A. MackeyJohn N. De Roach & Fred K. Chen. (2021) CLASSIFYING ABCA4 MUTATION SEVERITY USING AGE-DEPENDENT ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE-DERIVED TOTAL LESION SIZE. Retina 41:12, pages 2578-2588.
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Julie M. Robillard, Tanya L. Feng & Katarzyna Kabacińska. (2021) Access to genetic testing for rare diseases: Existing gaps in public‐facing information. World Medical & Health Policy 13:3, pages 518-525.
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Juanita Pappalardo, Rachael C. Heath Jeffery, Jennifer A. Thompson, Enid Chelva, Quang Pham, Ian J. Constable, Terri L. McLaren, Tina M. Lamey, John N. De Roach & Fred K. Chen. (2021) A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1). Documenta Ophthalmologica 143:1, pages 61-73.
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Danial Roshandel, Jennifer A. Thompson, Rachael C. Heath Jeffery, Dan Zhang, Tina M. Lamey, Terri L. McLaren, John N. De Roach, Samuel McLenachan, David A. Mackey & Fred K. Chen. (2021) Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11. Genes 12:6, pages 915.
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Fahimeh Beigi, Marta Del Pozo-Valero, Inmaculada Martin-Merida, Irene Perea-Romero, Masoud Reza Manaviat, Carmen Ayuso & Nasrin Ghasemi. (2021) Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease. Experimental Eye Research 207, pages 108533.
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Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Tina M. Lamey, Terri L. McLaren, Ian L. McAllister, David A. Mackey, Ian J. Constable, John N. De Roach & Fred K. Chen. (2021) Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence. Ophthalmology Science 1:1, pages 100005.
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Danial Roshandel, Jennifer A. Thompson, Rachael C. Heath Jeffery, Danuta M. Sampson, Enid Chelva, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Shane R. Durkin & Fred K. Chen. (2021)
Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in
CRB1
-Associated Retinopathies
. Translational Vision Science & Technology 10:2, pages 38.
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Natascha M. D. Ivy-Israel, Carolyn E. Moore, Tonia S. Schwartz & Stephen S. Ditchkoff. (2020) Characterization of two MHC II genes (DOB, DRB) in white-tailed deer (Odocoileus virginianus). BMC Genetics 21:1.
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Marta Diñeiro, Raquel Capín, Guadalupe Á. Cifuentes, Beatriz Fernández‐Vega, Eva Villota, Andrea Otero, Adrián Santiago, Patricia C. Pruneda, David Castillo, Mónica Viejo‐Díaz, Inés Hernando, Noelia S. Durán, Rebeca Álvarez, Claudia G. Lago, Gonzalo R. Ordóñez, Álvaro Fernández‐Vega, Rubén Cabanillas & Juan Cadiñanos. (2020) Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options. Acta Ophthalmologica 98:8.
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Jason Charng, Di Xiao, Maryam Mehdizadeh, Mary S. Attia, Sukanya Arunachalam, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, David A. Mackey, Shaun Frost & Fred K. Chen. (2020) Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease. Scientific Reports 10:1.
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Di Huang, Jennifer A. Thompson, Jason Charng, Enid Chelva, Samuel McLenachan, Shang‐Chih Chen, Dan Zhang, Terri L. McLaren, Tina M. Lamey, Ian J. Constable, John N. De Roach, May Thandar Aung‐Htut, Abbie Adams, Sue Fletcher, Steve D. Wilton & Fred K. Chen. (2020)
Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel
ABCA4
deletion–insertion variant causing a splicing defect
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Zhen‐Ji Chen, Keng‐Hung Lin, Shi‐Huang Lee, Ren‐Juan Shen, Zhuo‐Kun Feng, Xiao‐Fang Wang, Xiu‐Feng Huang, Zhi‐Qin Huang & Zi‐Bing Jin. (2020) Mutation spectrum and genotype‐phenotype correlation of inherited retinal dystrophy in Taiwan. Clinical & Experimental Ophthalmology 48:4, pages 486-499.
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Jennifer A. Thompson, John (Pei-Wen) Chiang, John N. De Roach, Terri L. McLaren, Fred K. Chen, Ling Hoffmann, Isabella Campbell & Tina M. Lamey. 2019. Retinal Degenerative Diseases. Retinal Degenerative Diseases
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RPGR
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Elizabeth D. Au, Rosario Fernandez-Godino, Tadeusz J. Kaczynksi, Maria E. Sousa & Michael H. Farkas. (2017) Characterization of lincRNA expression in the human retinal pigment epithelium and differentiated induced pluripotent stem cells. PLOS ONE 12:8, pages e0183939.
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