A citation-based method for searching scientific literature

Anneke I den Hollander, Ronald Roepman, Robert K Koenekoop, Frans P M Cremers. Prog Retin Eye Res 2008
Times Cited: 483







List of co-cited articles
1240 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
Neruban Kumaran, Anthony T Moore, Richard G Weleber, Michel Michaelides. Br J Ophthalmol 2017
89
28

Safety and efficacy of gene transfer for Leber's congenital amaurosis.
Albert M Maguire, Francesca Simonelli, Eric A Pierce, Edward N Pugh, Federico Mingozzi, Jeannette Bennicelli, Sandro Banfi, Kathleen A Marshall, Francesco Testa, Enrico M Surace,[...]. N Engl J Med 2008
22


Effect of gene therapy on visual function in Leber's congenital amaurosis.
James W B Bainbridge, Alexander J Smith, Susie S Barker, Scott Robbie, Robert Henderson, Kamaljit Balaggan, Ananth Viswanathan, Graham E Holder, Andrew Stockman, Nick Tyler,[...]. N Engl J Med 2008
21

Long-term effect of gene therapy on Leber's congenital amaurosis.
James W B Bainbridge, Manjit S Mehat, Venki Sundaram, Scott J Robbie, Susie E Barker, Caterina Ripamonti, Anastasios Georgiadis, Freya M Mowat, Stuart G Beattie, Peter J Gardner,[...]. N Engl J Med 2015
375
20

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
Anneke I den Hollander, Robert K Koenekoop, Suzanne Yzer, Irma Lopez, Maarten L Arends, Krysta E J Voesenek, Marijke N Zonneveld, Tim M Strom, Thomas Meitinger, Han G Brunner,[...]. Am J Hum Genet 2006
406
18

Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.
William W Hauswirth, Tomas S Aleman, Shalesh Kaushal, Artur V Cideciyan, Sharon B Schwartz, Lili Wang, Thomas J Conlon, Sanford L Boye, Terence R Flotte, Barry J Byrne,[...]. Hum Gene Ther 2008
654
18

Retinitis pigmentosa.
Dyonne T Hartong, Eliot L Berson, Thaddeus P Dryja. Lancet 2006
17

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.
Samuel G Jacobson, Artur V Cideciyan, Ramakrishna Ratnakaram, Elise Heon, Sharon B Schwartz, Alejandro J Roman, Marc C Peden, Tomas S Aleman, Sanford L Boye, Alexander Sumaroka,[...]. Arch Ophthalmol 2012
394
16

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.
Stephen Russell, Jean Bennett, Jennifer A Wellman, Daniel C Chung, Zi-Fan Yu, Amy Tillman, Janet Wittes, Julie Pappas, Okan Elci, Sarah McCague,[...]. Lancet 2017
510
15

Review and update on the molecular basis of Leber congenital amaurosis.
Oscar Francisco Chacon-Camacho, Juan Carlos Zenteno. World J Clin Cases 2015
58
24


Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect.
Artur V Cideciyan, Samuel G Jacobson, Arlene V Drack, Allen C Ho, Jason Charng, Alexandra V Garafalo, Alejandro J Roman, Alexander Sumaroka, Ian C Han, Maria D Hochstedler,[...]. Nat Med 2019
79
16

Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial.
Jean Bennett, Jennifer Wellman, Kathleen A Marshall, Sarah McCague, Manzar Ashtari, Julie DiStefano-Pappas, Okan U Elci, Daniel C Chung, Junwei Sun, J Fraser Wright,[...]. Lancet 2016
214
12

Gene therapy restores vision in a canine model of childhood blindness.
G M Acland, G D Aguirre, J Ray, Q Zhang, T S Aleman, A V Cideciyan, S E Pearce-Kelling, V Anand, Y Zeng, A M Maguire,[...]. Nat Genet 2001
744
12

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
Artur V Cideciyan, Tomas S Aleman, Samuel G Jacobson, Hemant Khanna, Alexander Sumaroka, Geoffrey K Aguirre, Sharon B Schwartz, Elizabeth A M Windsor, Shirley He, Bo Chang,[...]. Hum Mutat 2007
104
11

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
Artur V Cideciyan, Rivka A Rachel, Tomas S Aleman, Malgorzata Swider, Sharon B Schwartz, Alexander Sumaroka, Alejandro J Roman, Edwin M Stone, Samuel G Jacobson, Anand Swaroop. Hum Mol Genet 2011
78
14

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.
T M Redmond, S Yu, E Lee, D Bok, D Hamasaki, N Chen, P Goletz, J X Ma, R K Crouch, K Pfeifer. Nat Genet 1998
649
11

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, Gaëlle Tanguy, Fabienne Barbet, Dominique Ducroq, Patrick Calvas, Hélène Dollfus, Christian Hamel, Tuija Lopponen,[...]. Hum Mutat 2004
226
11

Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.
T Michael Redmond, Eugenia Poliakov, Shirley Yu, Jen-Yue Tsai, Zhongjian Lu, Susan Gentleman. Proc Natl Acad Sci U S A 2005
278
11

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
H Morimura, G A Fishman, S A Grover, A B Fulton, E L Berson, T P Dryja. Proc Natl Acad Sci U S A 1998
290
11

Non-syndromic retinitis pigmentosa.
Sanne K Verbakel, Ramon A C van Huet, Camiel J F Boon, Anneke I den Hollander, Rob W J Collin, Caroline C W Klaver, Carel B Hoyng, Ronald Roepman, B Jeroen Klevering. Prog Retin Eye Res 2018
179
11

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Galuh D N Astuti, Mette Bertelsen, Markus N Preising, Muhammad Ajmal, Birgit Lorenz, Sultana M H Faradz, Raheel Qamar, Rob W J Collin, Thomas Rosenberg, Frans P M Cremers. Eur J Hum Genet 2016
32
34

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.
Artur V Cideciyan, Samuel G Jacobson, William A Beltran, Alexander Sumaroka, Malgorzata Swider, Simone Iwabe, Alejandro J Roman, Melani B Olivares, Sharon B Schwartz, András M Komáromy,[...]. Proc Natl Acad Sci U S A 2013
261
11

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
Francesca Simonelli, Carmela Ziviello, Francesco Testa, Settimio Rossi, Elisa Fazzi, Paolo Emilio Bianchi, Maurizio Fossarello, Sabrina Signorini, Chiara Bertone, Silvana Galantuomo,[...]. Invest Ophthalmol Vis Sci 2007
98
11

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.
Albert M Maguire, Katherine A High, Alberto Auricchio, J Fraser Wright, Eric A Pierce, Francesco Testa, Federico Mingozzi, Jeannette L Bennicelli, Gui-shuang Ying, Settimio Rossi,[...]. Lancet 2009
530
10

Improvement and decline in vision with gene therapy in childhood blindness.
Samuel G Jacobson, Artur V Cideciyan, Alejandro J Roman, Alexander Sumaroka, Sharon B Schwartz, Elise Heon, William W Hauswirth. N Engl J Med 2015
207
10


Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
S M Gu, D A Thompson, C R Srikumari, B Lorenz, U Finckh, A Nicoletti, K R Murthy, M Rathmann, G Kumaramanickavel, M J Denton,[...]. Nat Genet 1997
414
10

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Frauke Coppieters, Steve Lefever, Bart P Leroy, Elfride De Baere. Hum Mutat 2010
162
10

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Isabelle Perrault, Nathalie Delphin, Sylvain Hanein, Sylvie Gerber, Jean-Louis Dufier, Olivier Roche, Sabine Defoort-Dhellemmes, Hélène Dollfus, Elisa Fazzi, Arnold Munnich,[...]. Hum Mutat 2007
139
10

Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials.
Albert M Maguire, Stephen Russell, Jennifer A Wellman, Daniel C Chung, Zi-Fan Yu, Amy Tillman, Janet Wittes, Julie Pappas, Okan Elci, Kathleen A Marshall,[...]. Ophthalmology 2019
75
13

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.
David A Parfitt, Amelia Lane, Conor M Ramsden, Amanda-Jayne F Carr, Peter M Munro, Katarina Jovanovic, Nele Schwarz, Naheed Kanuga, Manickam N Muthiah, Sarah Hull,[...]. Cell Stem Cell 2016
146
9

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies.
Rivka A Rachel, Erin A Yamamoto, Mrinal K Dewanjee, Helen L May-Simera, Yuri V Sergeev, Alice N Hackett, Katherine Pohida, Jeeva Munasinghe, Norimoto Gotoh, Bill Wickstead,[...]. Hum Mol Genet 2015
53
16

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.
Artur V Cideciyan, Tomas S Aleman, Sanford L Boye, Sharon B Schwartz, Shalesh Kaushal, Alejandro J Roman, Ji-Jing Pang, Alexander Sumaroka, Elizabeth A M Windsor, James M Wilson,[...]. Proc Natl Acad Sci U S A 2008
482
9

Mutation survey of known LCA genes and loci in the Saudi Arabian population.
Yumei Li, Hui Wang, Jianlan Peng, Richard A Gibbs, Richard Alan Lewis, James R Lupski, Graeme Mardon, Rui Chen. Invest Ophthalmol Vis Sci 2009
52
17

Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies.
Steven D Schwartz, Carl D Regillo, Byron L Lam, Dean Eliott, Philip J Rosenfeld, Ninel Z Gregori, Jean-Pierre Hubschman, Janet L Davis, Gad Heilwell, Marc Spirn,[...]. Lancet 2015
613
9

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.
Samuel G Jacobson, Artur V Cideciyan, Tomas S Aleman, Michael J Pianta, Alexander Sumaroka, Sharon B Schwartz, Elaine E Smilko, Ann H Milam, Val C Sheffield, Edwin M Stone. Hum Mol Genet 2003
156
9

Molecular genetics of Leber congenital amaurosis.
Frans P M Cremers, José A J M van den Hurk, Anneke I den Hollander. Hum Mol Genet 2002
149
9

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.
Samuel G Jacobson, Tomas S Aleman, Artur V Cideciyan, Alexander Sumaroka, Sharon B Schwartz, Elizabeth A M Windsor, Elias I Traboulsi, Elise Heon, Steven J Pittler, Ann H Milam,[...]. Proc Natl Acad Sci U S A 2005
185
9

Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2.
Francesco Testa, Albert M Maguire, Settimio Rossi, Eric A Pierce, Paolo Melillo, Kathleen Marshall, Sandro Banfi, Enrico M Surace, Junwei Sun, Carmela Acerra,[...]. Ophthalmology 2013
204
8

Mutations in RPE65 cause Leber's congenital amaurosis.
F Marlhens, C Bareil, J M Griffoin, E Zrenner, P Amalric, C Eliaou, S Y Liu, E Harris, T M Redmond, B Arnaud,[...]. Nat Genet 1997
415
8

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
D A Thompson, P Gyürüs, L L Fleischer, E L Bingham, C L McHenry, E Apfelstedt-Sylla, E Zrenner, B Lorenz, J E Richards, S G Jacobson,[...]. Invest Ophthalmol Vis Sci 2000
159
8

The molecular basis of human retinal and vitreoretinal diseases.
Wolfgang Berger, Barbara Kloeckener-Gruissem, John Neidhardt. Prog Retin Eye Res 2010
299
8

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Frauke Coppieters, Ingele Casteels, Françoise Meire, Sarah De Jaegere, Sally Hooghe, Nicole van Regemorter, Hilde Van Esch, Ausra Matuleviciene, Luis Nunes, Valérie Meersschaut,[...]. Hum Mutat 2010
78
10


Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Edgar A Otto, Bart Loeys, Hemant Khanna, Jan Hellemans, Ralf Sudbrak, Shuling Fan, Ulla Muerb, John F O'Toole, Juliana Helou, Massimo Attanasio,[...]. Nat Genet 2005
264
8

Photoreceptor Cilia and Retinal Ciliopathies.
Kinga M Bujakowska, Qin Liu, Eric A Pierce. Cold Spring Harb Perspect Biol 2017
55
14

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
M M Sohocki, S J Bowne, L S Sullivan, S Blackshaw, C L Cepko, A M Payne, S S Bhattacharya, S Khaliq, S Qasim Mehdi, D G Birch,[...]. Nat Genet 2000
194
8

Cone rod dystrophies.
Christian P Hamel. Orphanet J Rare Dis 2007
237
8


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.