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A novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss 一种位于经典热点区域之外的TUBB4B错义新变异与视锥-视杆营养不良和感音神经性听力损失相关联 Cao, Lauren Y.; Duemler, Anna; Jung, Emily H.; Maldonado, Ramiro S.; Richards, Sarah; Schiff, Elena R.; Mahroo, Omar A.; Webster, Andrew R.; Lin, Siying; Fenner, Beau J.; Iannaccone, Alessandro; Alekseev, Oleg 分享 收藏
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BASELINE VISUAL FIELD FINDINGS IN THE RUSH2A STUDY: ASSOCIATED FACTORS AND CORRELATION WITH OTHER MEASURES OF DISEASE SEVERITY (vol 219, pg 87, 2020) RUSH2A研究中的基线视场发现：相关因素及与其他疾病严重程度指标的相关性（卷219，页87，2020） Duncan, JL; Liang, WD; Maguire, MG; Audo, I; Ayala, AR; Birch, DG; Carroll, J; Cheetham, JK; Degli Esposti, S; Durham, TA; Erker, L; Farsiu, S; Ferris, FL III; Heon, E; Hufnagel, RB; Iannacconé, A; Jaffe, GJ; Kay, CN; Michaelides, M; Pennesi, ME; Sahel, JA 分享 收藏
Variants in CFAP410 cause a range of retinal and skeletal phenotypes CFAP410基因的变异导致一系列视网膜和骨骼表型。 Schmidt, Ryan E.; Pohodich, Amy E.; Birch, David; Jones, Kaylie; Lam, Byron L.; Jung, Emily H.; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A.; Webster, Andrew R.; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C.; Heon, Elise; Scholl, Hendrik P. N.; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I.; Zein, Wadih; Brooks, Brian P.; Cukras, Catherine; Hufnagel, Robert; Aleman, Tomas S.; Sylla, Mohamed M.; Tsang, Stephen H.; Alabek, Michelle; Sahel, Jose; Gorin, Michael B.; van Genderen, Maria M.; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L.; Hull, Sarah; Duncan, Jacque L.; Hanson, James V. M.; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A.; Yang, Paul; Pennesi, Mark E. 分享 收藏
Subretinal Gene Therapy Drug AGTC-501 for XLRP Phase 1/2 Multicenter Study (HORIZON): 24-Month Safety and Efficacy Results Yang, Paul; Birch, David; Lauer, Andreas; Sisk, Robert; Anand, Rajiv; Pennesi, Mark E.; Iannaccone, Alessandro; Yaghy, Antonio; Scaria, Abraham; Jung, Jung Ah; Curtiss, Darin; Waheed, Nadia K. 分享 收藏
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study Igelman, Austin D.; White, Elizabeth; Tayyib, Alaa; Everett, Lesley; Vincent, Ajoy; Heon, Elise; Zeitz, Christina; Michaelides, Michel; Mahroo, Omar A.; Katta, Mohamed; Webster, Andrew; Preising, Markus; Lorenz, Birgit; Khateb, Samer; Banin, Eyal; Sharon, Dror; Luski, Shahar; Van Den Broeck, Filip; Leroy, Bart Peter; De Baere, Elfride; Walraedt, Sophie; Stingl, Katarina; Kuehlewein, Laura; Kohl, Susanne; Reith, Milda; Fulton, Anne; Raghuram, Aparna; Meunier, Isabelle; Dollfus, Helene; Aleman, Tomas S.; Bedoukian, Emma C.; O'Neil, Erin C.; Krauss, Emily; Vincent, Andrea; Jordan, Charlotte; Iannaccone, Alessandro; Sen, Parveen; Sundaramurthy, Srilekha; Nagasamy, Soumittra; Balikova, Irina; Casteels, Ingele; Borooah, Shyamanga; Yassin, Shaden; Nagiel, Aaron; Schwartz, Hillary; Zanlonghi, Xavier; Gottlob, Irene; Mclean, Rebecca J.; Munier, Francis L.; Stephenson, Andrew; Sisk, Robert; Koenekoop, Robert; Wilson, Lorri B.; Fredrick, Douglas; Choi, Dongseok; Yang, Paul; Pennesi, Mark Edward 分享 收藏
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF KB-Mediated Autoinflammatory Disease with Retinal Dystrophy ROSAH的眼科表现 (视网膜营养不良，视神经水肿，脾肿大，无汗和头痛) 综合征，一种遗传性NF KB介导的自身炎症性疾病，伴有视网膜营养不良 Huryn, Laryssa A.; Kozycki, Christina Torres; Serpen, Jasmine Y.; Zein, Wadih M.; Ullah, Ehsan; Iannaccone, Alessandro; Williams, Lloyd B.; Sobrin, Lucia; Brooks, Brian P.; Sen, H. Nida; Hufnagel, Robert B.; Kastner, Daniel L.; Kodati, Shilpa 分享 收藏
Baseline Microperimetry and OCT in the RUSH2A Study: Structure -Function Association and Correlation With Disease Severity Lad, Eleonora M.; Duncan, Jacque L.; Liang, Wendi; Maguire, Maureen G.; Ayala, Allison R.; Audo, Isabelle; Birch, David G.; Carroll, Joseph; Cheetham, Janet K.; Durham, Todd A.; Fahim, Abigail T.; Loo, Jessica; Deng, Zengtian; Mukherjee, Dibyendu; Heon, Elise; Hufnagel, Robert B.; Guan, Bin; Iannaccone, Alessandro; Jaffe, Glenn J.; Kay, Christine N.; Michaelides, Michel; Pennesi, Mark E.; Vincent, Ajoy; Weng, Christina Y.; Farsiu, Sina 分享 收藏
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study Hufnagel, Robert B.; Liang, Wendi; Duncan, Jacque L.; Brewer, Carmen C.; Audo, Isabelle; Ayala, Allison R.; Branham, Kari; Cheetham, Janet K.; Daiger, Stephen P.; Durham, Todd A.; Guan, Bin; Heon, Elise; Hoyng, Carel B.; Lannaccone, Alessandro; Kay, Christine N.; Michaelides, Michel; Pennesi, Mark E.; Singh, Mandeep S.; Ullah, Ehsan 分享 收藏
The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene Birch, David G.; Samarakoon, Lassana; Melia, Michele; Duncan, Jacque L.; Ayala, Allison R.; Audo, Isabelle; Cheetham, Janet K.; Durham, Todd A.; Iannaccone, Alessandro; Pennesi, Mark E.; Stingl, Katarina 分享 收藏
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome da Palma, Mariana Matioli; Igelman, Austin D.; Ku, Cristy; Burr, Amanda; You, Jia Yue; Place, Emily M.; Wang, Nan-Kai; Oh, Jin Kyun; Branham, Kari E.; Zhang, Xinxin; Ahn, Jeeyun; Gorin, Michael B.; Lam, Byron L.; Ronquillo, Cecinio C.; Bernstein, Paul S.; Nagiel, Aaron; Huckfeldt, Rachel; Cabrera, Michelle T.; Kelly, John P.; Bakall, Benjamin; Iannaccone, Alessandro; Hufnagel, Robert B.; Zein, Wadih M.; Koenekoop, Robert K.; Birch, David G.; Yang, Paul; Fahim, Abigail T.; Pennesi, Mark E. 分享 收藏
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Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity Duncan, Jacque L.; Liang, Wendi; Maguire, Maureen G.; Audo, Isabelle; Ayala, Allison R.; Birch, David G.; Carroll, Joseph; Cheetham, Janet K.; Degli Esposti, Simona; Durham, Todd A.; Erker, Laura; Farsiu, Sina; Ferris, Frederick L.; Heon, Elise; Hufnagel, Robert B.; Iannaccone, Alessandro; Jaffe, Glenn J.; Kay, Christine N.; Michaelides, Michel; Pennesi, Mark E.; Sahel, Jose-Alain 分享 收藏
Comprehensive identification of mRNA isoforms reveals the diversity of neural cell-surface molecules with roles in retinal development and disease Ray, Thomas A.; Cochran, Kelly; Kozlowski, Chris; Wang, Jingjing; Alexander, Graham; Cady, Martha A.; Spencer, William J.; Ruzycki, Philip A.; Clark, Brian S.; Laeremans, Annelies; He, Ming-Xiao; Wang, Xiaoming; Park, Emily; Hao, Ying; Iannaccone, Alessandro; Hu, Gary; Fedrigo, Olivier; Skiba, Nikolai P.; Arshavsky, Vadim Y.; Kay, Jeremy N. 分享 收藏
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder SSBP1突变导致复杂的视神经萎缩疾病的mtDNA耗竭 Del Dotto, Valentina; Ullah, Farid; Di Meo, Ivano; Magini, Pamela; Gusic, Mirjana; Maresca, Alessandra; Caporali, Leonardo; Palombo, Flavia; Tagliavini, Francesca; Baugh, Evan Harris; Macao, Bertil; Szilagyi, Zsolt; Peron, Camille; Gustafson, Margaret A.; Khan, Kamal; La Morgia, Chiara; Barboni, Piero; Carbonelli, Michele; Valentino, Maria Lucia; Liguori, Rocco; Shashi, Vandana; Sullivan, Jennifer; Nagaraj, Shashi; El-Dairi, Mays; Iannaccone, Alessandro; Cutcutache, Ioana; Bertini, Enrico; Carrozzo, Rosalba; Emma, Francesco; Diomedi-Camassei, Francesca; Zanna, Claudia; Armstrong, Martin; Page, Matthew; Stong, Nicholas; Boesch, Sylvia; Kopajtich, Robert; Wortmann, Saskia; Sperl, Wolfgang; Davis, Erica E.; Copeland, William C.; Seri, Marco; Falkenberg, Maria; Prokisch, Holger; Katsanis, Nicholas; Tiranti, Valeria; Pippucci, Tommaso; Carelli, Valerio 分享 收藏
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Retinal pigment epithelium and microglia express the CD5 antigen-like protein, a novel autoantigen in age-related macular degeneration Iannaccone, Alessandro; Hollingsworth, T. J.; Koirala, Diwa; New, David D.; Lenchik, Nataliya I.; Beranova-Giorgianni, Sarka; Gerling, Ivan C.; Radic, Marko Z.; Giorgianni, Francesco 分享 收藏
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