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G. Jane Farrar

University of Basel

43H指数
142论文数
5.6K被引数
收录论文 50
发表时间
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal DystrophiesCRB1-Associated遗传性视网膜营养不良患者血浆补体因子升高
err2025-02-21
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errMoekotte, Lude; Boer, Joke H. de; Hiddingh, Sanne; de Ligt, Aafke; Nguyen, Xuan-Thanh-An; Hoyng, Carel B.; Inglehearn, Chris F.; Mckibbin, Martin; Lamey, Tina M.; Thompson, Jennifer A.; Chen, Fred K.; Mclaren, Terri L.; Altalbishi, Alaa; Panneman, Daan M.; Boonen, Erica G. M.; Banfi, Sandro; Bocquet, Beatrice; Meunier, Isabelle; De Baere, Elfride; Koenekoop, Robert; Oldak, Monika; Rivolta, Carlo; Roberts, Lisa; Ramesar, Raj; Strupaite-Sileikiene, Rasa; Kohl, Susanne; Farrar, G. Jane; van Vugt, Marion; van Setten, Jessica; Roosing, Susanne; van den Born, L. Ingeborgh; Boon, Camiel J. F.; Genderen, Maria M. van; Kuiper, Jonas J. W.
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Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
err2023-10-01
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errOAAI
errCorradi, Zelia; Khan, Mubeen; Hitti-Malin, Rebekkah; Mishra, Ketan; Whelan, Laura; Cornelis, Stephanie S.; Hoyng, Carel B.; Kampjarvi, Kati; Klaver, Caroline C. W.; Liskova, Petra; Stoehr, Heidi; Weber, Bernhard H. F.; Banfi, Sandro; Farrar, G. Jane; Sharon, Dror; Zernant, Jana; Allikmets, Rando; Dhaenens, Claire-Marie; Cremers, Frans P. M.
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Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review
err2023-07-19
err3
errOAAI
errStephenson, Kirk A. J.; Whelan, Laura; Zhu, Julia; Dockery, Adrian; Wynne, Niamh C.; Cairns, Rebecca M.; Kirk, Claire; Turner, Jacqueline; Duignan, Emma S.; O'Byrne, James J.; Silvestri, Giuliana; Kenna, Paul F.; Farrar, G. Jane; Keegan, David J.
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Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
err2023-06-09
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errOAAI
errWhelan, Laura; Dockery, Adrian; Stephenson, Kirk A. J.; Zhu, Julia; Kopcic, Ella; Post, Iris J. M.; Khan, Mubeen; Corradi, Zelia; Wynne, Niamh; O'Byrne, James J.; Duignan, Emma; Silvestri, Giuliana; Roosing, Susanne; Cremers, Frans P. M.; Keegan, David J.; Kenna, Paul F.; Farrar, G. Jane
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Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction
err2023-01-18
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errChadderton, Naomi; Palfi, Arpad; Maloney, Daniel M. M.; Carrigan, Matthew; Finnegan, Laura K. K.; Hanlon, Killian S. S.; Shortall, Ciara; O'Reilly, Mary; Humphries, Peter; Cassidy, Lorraine; Kenna, Paul F. F.; Millington-Ward, Sophia; Farrar, G. Jane
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AAV-mediated gene therapy improving mitochondrial function provides benefit in age-related macular degeneration models
err2022-08-21
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errOAAI
errMillington-Ward, Sophia; Chadderton, Naomi; Finnegan, Laura K.; Post, Iris J. M.; Carrigan, Matthew; Gardiner, Tom; Peixoto, Elisa; Maloney, Daniel; Humphries, Marian M.; Stitt, Alan; Leveillard, Thierry; Humphries, Pete; Kenna, Paul F.; Palfi, Arpad; Farrar, G. Jane
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Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
err2022-02-28
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errOAAI
errVelde, Hedwig M.; Reurink, Janine; Held, Sebastian; Li, Catherina H. Z.; Yzer, Suzanne; Oostrik, Jaap; Weeda, Jack; Haer-Wigman, Lonneke; Yntema, Helger G.; Roosing, Susanne; Pauleikhoff, Laurenz; Lange, Clemens; Whelan, Laura; Dockery, Adrian; Zhu, Julia; Keegan, David J.; Farrar, G. Jane; Kremer, Hannie; Lanting, Cornelis P.; Damme, Markus; Pennings, Ronald J. E.
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Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations
err2021-05-05
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errStephenson, Kirk A. J.; Zhu, Julia; Wynne, Niamh; Dockery, Adrian; Cairns, Rebecca M.; Duignan, Emma; Whelan, Laura; Malone, Conor P.; Dempsey, Hilary; Collins, Karen; Routledge, Shana; Pandey, Rajiv; Crossan, Elaine; Turner, Jacqueline; O'Byrne, James J.; Brady, Laura; Silvestri, Giuliana; Kenna, Paul F.; Farrar, G. Jane; Keegan, David J.
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BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
err2021-04-28
err18
PREAI
errFadaie, Zeinab; Whelan, Laura; Dockery, Adrian; Li, Catherina H. Z.; van der Born, L. Ingeborgh; Hoyng, Carel B.; Gilissen, Christian; Corominas, Jordi; Rowlands, Charlie; Megaw, Roly; Lampe, Anne K.; Cremers, Frans P. M.; Farrar, Gwyneth Jane; Ellingford, Jamie M.; Kenna, Paul F.; Roosing, Susanne
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Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction
err2020-11-26
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errMaloney, Daniel M.; Chadderton, Naomi; Millington-Ward, Sophia; Palfi, Arpad; Shortall, Ciara; O'Byrne, James J.; Cassidy, Lorraine; Keegan, David; Humphries, Peter; Kenna, Paul; Farrar, Gwyneth Jane
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Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells
err2020-10-05
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errMillington-Ward, Sophia; Chadderton, Naomi; Berkeley, Megan; Finnegan, Laura K.; Hanlon, Killian S.; Carrigan, Matthew; Humphries, Peter; Kenna, Paul F.; Palfi, Arpad; Farrar, G. Jane
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AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1-/- Retinas靶向光感受器的AAV递送的Tulp1补充疗法在Tulp1-/-视网膜中提供的益处最小
err2020-08-27
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errPalfi, Arpad; Yesmambetov, Adlet; Millington-Ward, Sophia; Shortall, Ciara; Humphries, Pete; Kenna, Paul F.; Chadderton, Naomi; Farrar, G. Jane
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Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids使用iPSC衍生的视网膜类器官对RP2视网膜色素变性进行建模和挽救
err2020-07-01
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errLane, Amelia; Jovanovic, Katarina; Shortall, Ciara; Ottaviani, Daniele; Panes, Anna Brugulat; Schwarz, Nele; Guarascio, Rosellina; Hayes, Matthew J.; Palfi, Arpad; Chadderton, Naomi; Farrar, G. Jane; Hardcastle, Alison J.; Cheetham, Michael E.
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A Novel Retinal Ganglion Cell Promoter for Utility in AAV Vectors
err2017-09-21
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errHanlon, Killian S.; Chadderton, Naomi; Palfi, Arpad; Fernandez, Alfonso Blanco; Humphries, Peter; Kenna, Paul F.; Millington-Ward, Sophia; Farrar, G. Jane
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Toward an elucidation of the molecular genetics of inherited retinal degenerations
err2017-05-16
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errFarrar, G. Jane; Carrigan, Matthew; Dockery, Adrian; Millington-Ward, Sophia; Palfi, Arpad; Chadderton, Naomi; Humphries, Marian; Kiang, Anna Sophia; Kenna, Paul F.; Humphries, Pete
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Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations
err2016-09-14
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errCarrigan, Matthew; Duignan, Emma; Malone, Conor P. G.; Stephenson, Kirk; Saad, Tahira; McDermott, Ciara; Green, Andrew; Keegan, David; Humphries, Peter; Kenna, Paul F.; Farrar, G. Jane
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microRNA regulatory circuits in a mouse model of inherited retinal degeneration
err2016-08-16
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errPalfi, Arpad; Hokamp, Karsten; Hauck, Stefanie M.; Vencken, Sebastian; Millington-Ward, Sophia; Chadderton, Naomi; Carrigan, Mathew; Kortvely, Elod; Greene, Catherine M.; Kenna, Paul F.; Farrar, G. Jane
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A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration
err2015-10-15
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errCarrigan, Matthew; Duignan, Emma; Humphries, Pete; Palfi, Arpad; Kenna, Paul F.; Farrar, G. Jane
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Effective delivery of large genes to the retina by dual AAV vectors通过双AAV载体将大基因有效递送至视网膜
err2013-12-16
err209
errOAAI
errTrapani, Ivana; Colella, Pasqualina; Sommella, Andrea; Iodice, Carolina; Cesi, Giulia; de Simone, Sonia; Marrocco, Elena; Rossi, Settimio; Giunti, Massimo; Palfi, Arpad; Farrar, Gwyneth J.; Polishchuk, Roman; Auricchio, Alberto
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