A citation-based method for searching scientific literature

Wolfgang Berger, Barbara Kloeckener-Gruissem, John Neidhardt. Prog Retin Eye Res 2010
Times Cited: 357







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



Times Cited
  Times     Co-cited
Similarity


Retinitis pigmentosa.
Dyonne T Hartong, Eliot L Berson, Thaddeus P Dryja. Lancet 2006
25

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
22

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
734
21

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.
Edwin M Stone, Jeaneen L Andorf, S Scott Whitmore, Adam P DeLuca, Joseph C Giacalone, Luan M Streb, Terry A Braun, Robert F Mullins, Todd E Scheetz, Val C Sheffield,[...]. Ophthalmology 2017
186
18

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Keren J Carss, Gavin Arno, Marie Erwood, Jonathan Stephens, Alba Sanchis-Juan, Sarah Hull, Karyn Megy, Detelina Grozeva, Eleanor Dewhurst, Samantha Malka,[...]. Am J Hum Genet 2017
227
16

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
R Vervoort, A Lennon, A C Bird, B Tulloch, R Axton, M G Miano, A Meindl, T Meitinger, A Ciccodicola, A F Wright. Nat Genet 2000
321
11

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
11

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Nicola Glöckle, Susanne Kohl, Julia Mohr, Tim Scheurenbrand, Andrea Sprecher, Nicole Weisschuh, Antje Bernd, Günther Rudolph, Max Schubach, Charlotte Poloschek,[...]. Eur J Hum Genet 2014
193
11

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
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
295
11

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Mark B Consugar, Daniel Navarro-Gomez, Emily M Place, Kinga M Bujakowska, Maria E Sousa, Zoë D Fonseca-Kelly, Daniel G Taub, Maria Janessian, Dan Yi Wang, Elizabeth D Au,[...]. Genet Med 2015
159
11

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
123
11

In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa.
Benjamin Bakondi, Wenjian Lv, Bin Lu, Melissa K Jones, Yuchun Tsai, Kevin J Kim, Rachelle Levy, Aslam Abbasi Akhtar, Joshua J Breunig, Clive N Svendsen,[...]. Mol Ther 2016
192
10

Genes and mutations causing retinitis pigmentosa.
S P Daiger, L S Sullivan, S J Bowne. Clin Genet 2013
342
9

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
458
9

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
261
9

Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10.
Morgan L Maeder, Michael Stefanidakis, Christopher J Wilson, Reshica Baral, Luis Alberto Barrera, George S Bounoutas, David Bumcrot, Hoson Chao, Dawn M Ciulla, Jennifer A DaSilva,[...]. Nat Med 2019
267
9

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.
Robert E MacLaren, Markus Groppe, Alun R Barnard, Charles L Cottriall, Tanya Tolmachova, Len Seymour, K Reed Clark, Matthew J During, Frans P M Cremers, Graeme C M Black,[...]. Lancet 2014
525
8

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
727
8

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
459
8

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
Li Zhao, Feng Wang, Hui Wang, Yumei Li, Sharon Alexander, Keqing Wang, Colin E Willoughby, Jacques E Zaneveld, Lichun Jiang, Zachry T Soens,[...]. Hum Genet 2015
70
11

Leber congenital amaurosis: genes, proteins and disease mechanisms.
Anneke I den Hollander, Ronald Roepman, Robert K Koenekoop, Frans P M Cremers. Prog Retin Eye Res 2008
544
8

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
7

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Lonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, L Ingeborgh van den Born, Caroline Cw Klaver, Joke Bgm Verheij, Carel B Hoyng, Martijn H Breuning, Camiel Jf Boon, Anneke J Kievit,[...]. Eur J Hum Genet 2017
71
9

MutationTaster2: mutation prediction for the deep-sequencing age.
Jana Marie Schwarz, David N Cooper, Markus Schuelke, Dominik Seelow. Nat Methods 2014
7

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Nicole Weisschuh, Anja K Mayer, Tim M Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andreasson, Antje Bernd, David G Birch, Christian P Hamel,[...]. PLoS One 2016
71
9

Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
Xiu-Feng Huang, Fang Huang, Kun-Chao Wu, Juan Wu, Jie Chen, Chi-Pui Pang, Fan Lu, Jia Qu, Zi-Bing Jin. Genet Med 2015
134
7

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
Terry A Braun, Robert F Mullins, Alex H Wagner, Jeaneen L Andorf, Rebecca M Johnston, Benjamin B Bakall, Adam P Deluca, Gerald A Fishman, Byron L Lam, Richard G Weleber,[...]. Hum Mol Genet 2013
119
7

Effective delivery of large genes to the retina by dual AAV vectors.
Ivana Trapani, Pasqualina Colella, Andrea Sommella, Carolina Iodice, Giulia Cesi, Sonia de Simone, Elena Marrocco, Settimio Rossi, Massimo Giunti, Arpad Palfi,[...]. EMBO Mol Med 2014
142
7

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.
Radulfus Wn Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald Je Pennings, José M Millan,[...]. Mol Ther Nucleic Acids 2016
75
9

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H Runhart, Miriam Bauwens, Nathalie M Bax, L Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S Cornelis, Joke B G M Verheij,[...]. Genet Med 2019
90
7

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps.
Jacque L Duncan, Eric A Pierce, Amy M Laster, Stephen P Daiger, David G Birch, John D Ash, Alessandro Iannaccone, John G Flannery, José A Sahel, Donald J Zack,[...]. Transl Vis Sci Technol 2018
81
8


Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G Holz,[...]. PLoS One 2013
158
6

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
226
6

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
863
6

Emerging therapies for inherited retinal degeneration.
Hendrik P N Scholl, Rupert W Strauss, Mandeep S Singh, Deniz Dalkara, Botond Roska, Serge Picaud, José-Alain Sahel. Sci Transl Med 2016
125
6

CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration.
Erin R Burnight, Joseph C Giacalone, Jessica A Cooke, Jessica R Thompson, Laura R Bohrer, Kathleen R Chirco, Arlene V Drack, John H Fingert, Kristan S Worthington, Luke A Wiley,[...]. Prog Retin Eye Res 2018
39
15

In vivo-directed evolution of a new adeno-associated virus for therapeutic outer retinal gene delivery from the vitreous.
Deniz Dalkara, Leah C Byrne, Ryan R Klimczak, Meike Visel, Lu Yin, William H Merigan, John G Flannery, David V Schaffer. Sci Transl Med 2013
404
6

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Alexis C Komor, Yongjoo B Kim, Michael S Packer, John A Zuris, David R Liu. Nature 2016
6

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
442
6

Novel properties of tyrosine-mutant AAV2 vectors in the mouse retina.
Hilda Petrs-Silva, Astra Dinculescu, Qiuhong Li, Wen-Tao Deng, Ji-Jing Pang, Seok-Hong Min, Vince Chiodo, Andy W Neeley, Lakshmanan Govindasamy, Antonette Bennett,[...]. Mol Ther 2011
185
6

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
594
6

Multiplex genome engineering using CRISPR/Cas systems.
Le Cong, F Ann Ran, David Cox, Shuailiang Lin, Robert Barretto, Naomi Habib, Patrick D Hsu, Xuebing Wu, Wenyan Jiang, Luciano A Marraffini,[...]. Science 2013
6

Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.
Jasmina Cehajic-Kapetanovic, Kanmin Xue, Cristina Martinez-Fernandez de la Camara, Anika Nanda, Alexandra Davies, Laura J Wood, Anna Paola Salvetti, M Dominik Fischer, James W Aylward, Alun R Barnard,[...]. Nat Med 2020
106
6

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
Yan Xu, Liping Guan, Tao Shen, Jianguo Zhang, Xueshan Xiao, Hui Jiang, Shiqiang Li, Jianhua Yang, Xiaoyun Jia, Ye Yin,[...]. Hum Genet 2014
119
6

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.
Silvia Albert, Alejandro Garanto, Riccardo Sangermano, Mubeen Khan, Nathalie M Bax, Carel B Hoyng, Jana Zernant, Winston Lee, Rando Allikmets, Rob W J Collin,[...]. Am J Hum Genet 2018
64
9

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
745
6

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Caroline Van Cauwenbergh,[...]. Genet Med 2019
55
10

Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.
Frans P M Cremers, Camiel J F Boon, Kinga Bujakowska, Christina Zeitz. Genes (Basel) 2018
38
15


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.