A citation-based method for searching scientific literature

Nina Schneider, Yogapriya Sundaresan, Prakadeeswari Gopalakrishnan, Avigail Beryozkin, Mor Hanany, Erez Y Levanon, Eyal Banin, Shay Ben-Aroya, Dror Sharon. Prog Retin Eye Res 2022
Times Cited: 6







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



Times Cited
  Times     Co-cited
Similarity


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
50

Retinitis pigmentosa.
Dyonne T Hartong, Eliot L Berson, Thaddeus P Dryja. Lancet 2006
33

Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.
Akira Inaba, Akiko Maeda, Akiko Yoshida, Kanako Kawai, Yasuhiko Hirami, Yasuo Kurimoto, Shinji Kosugi, Masayo Takahashi. Int J Mol Sci 2020
8
33

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
336
33

Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives.
Marina França Dias, Kwangsic Joo, Jessica A Kemp, Silvia Ligório Fialho, Armando da Silva Cunha, Se Joon Woo, Young Jik Kwon. Prog Retin Eye Res 2018
195
33

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
783
33

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
Bas P Hartel, Maria Löfgren, Patrick L M Huygen, Iris Guchelaar, Nicole Lo-A-Njoe Kort, Andre M Sadeghi, Erwin van Wijk, Lisbeth Tranebjærg, Hannie Kremer, William J Kimberling,[...]. Hear Res 2016
34
16


Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
David Baux, Catherine Blanchet, Christian Hamel, Isabelle Meunier, Lise Larrieu, Valérie Faugère, Christel Vaché, Pierangela Castorina, Bernard Puech, Dominique Bonneau,[...]. Hum Mutat 2014
48
16

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
Laurence H M Pierrache, Bas P Hartel, Erwin van Wijk, Magda A Meester-Smoor, Frans P M Cremers, Elfride de Baere, Julie de Zaeytijd, Mary J van Schooneveld, Cor W R J Cremers, Gislin Dagnelie,[...]. Ophthalmology 2016
56
16

Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Leslie P Molina-Ramírez, Eva Lenassi, Jamie M Ellingford, Panagiotis I Sergouniotis, Simon C Ramsden, Iain A Bruce, Graeme C M Black. Otol Neurotol 2020
9
16

Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Alessandro Iannaccone, Carmen C Brewer, Peiyao Cheng, Jacque L Duncan, Maureen G Maguire, Isabelle Audo, Allison R Ayala, Paul S Bernstein, Gavin M Bidelman, Janet K Cheetham,[...]. Am J Med Genet A 2021
1
100

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Eva Lenassi, Ajoy Vincent, Zheng Li, Zubin Saihan, Alison J Coffey, Heather B Steele-Stallard, Anthony T Moore, Karen P Steel, Linda M Luxon, Elise Héon,[...]. Eur J Hum Genet 2015
76
16

Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.
Feng-Juan Gao, Dan-Dan Wang, Fang Chen, Hao-Xiang Sun, Fang-Yuan Hu, Ping Xu, Jiankang Li, Wei Liu, Yu-He Qi, Wei Li,[...]. Br J Ophthalmol 2021
16
16

The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline.
David G Birch, Peiyao Cheng, Jacque L Duncan, Allison R Ayala, Maureen G Maguire, Isabelle Audo, Janet K Cheetham, Todd A Durham, Abigail T Fahim, Frederick L Ferris,[...]. Transl Vis Sci Technol 2020
12
16


Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.
Jacque L Duncan, Wendi Liang, Maureen G Maguire, Isabelle Audo, Allison R Ayala, David G Birch, Joseph Carroll, Janet K Cheetham, Simona Degli Esposti, Todd A Durham,[...]. Am J Ophthalmol 2020
14
16

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
Mika Asai-Coakwell, Lindsey March, Xiao Hua Dai, Michele Duval, Irma Lopez, Curtis R French, Jakub Famulski, Elfride De Baere, Peter J Francis, Periasamy Sundaresan,[...]. Hum Mol Genet 2013
45
16

Measuring intolerance to mutation in human genetics.
Zachary L Fuller, Jeremy J Berg, Hakhamanesh Mostafavi, Guy Sella, Molly Przeworski. Nat Genet 2019
45
16

A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes.
Eleanor G Seaby, Damian Smedley, Ana Lisa Taylor Tavares, Helen Brittain, Richard H van Jaarsveld, Diana Baralle, Heidi L Rehm, Anne O'Donnell-Luria, Sarah Ennis. Genet Med 2022
4
25

Toward an elucidation of the molecular genetics of inherited retinal degenerations.
G Jane Farrar, Matthew Carrigan, Adrian Dockery, Sophia Millington-Ward, Arpad Palfi, Naomi Chadderton, Marian Humphries, Anna Sophia Kiang, Paul F Kenna, Pete Humphries. Hum Mol Genet 2017
50
16

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
40
16


Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
Linda Köhn, Konstantin Kadzhaev, Marie S I Burstedt, Susann Haraldsson, Bengt Hallberg, Ola Sandgren, Irina Golovleva. Eur J Hum Genet 2007
46
16

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
16

AUTOIMMUNE RETINOPATHY IN A PATIENT WITH A MISSENSE MUTATION IN PITPNM3.
Mathieu F Bakhoum, Jesse D Sengillo, Xuan Cui, Stephen H Tsang. Retin Cases Brief Rep 2018
3
33

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Moumita Chaki, Rannar Airik, Amiya K Ghosh, Rachel H Giles, Rui Chen, Gisela G Slaats, Hui Wang, Toby W Hurd, Weibin Zhou, Andrew Cluckey,[...]. Cell 2012
254
16

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
200
16

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.
Linda Köhn, Susanne Kohl, Sara J Bowne, Lori S Sullivan, Ulrich Kellner, Stephen P Daiger, Ola Sandgren, Irina Golovleva. Ophthalmic Genet 2010
9
16

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
139
16

Pathognomonic (diagnostic) ERGs. A review and update.
Ajoy Vincent, Anthony G Robson, Graham E Holder. Retina 2013
54
16

The reactome pathway knowledgebase 2022.
Marc Gillespie, Bijay Jassal, Ralf Stephan, Marija Milacic, Karen Rothfels, Andrea Senff-Ribeiro, Johannes Griss, Cristoffer Sevilla, Lisa Matthews, Chuqiao Gong,[...]. Nucleic Acids Res 2022
91
16

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.
Alan F Wright, Christina F Chakarova, Mai M Abd El-Aziz, Shomi S Bhattacharya. Nat Rev Genet 2010
418
16

Protocol Update for large-scale genome and gene function analysis with the PANTHER classification system (v.14.0).
Huaiyu Mi, Anushya Muruganujan, Xiaosong Huang, Dustin Ebert, Caitlin Mills, Xinyu Guo, Paul D Thomas. Nat Protoc 2019
525
16

Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.
Xia Wang, Yanming Feng, Jianli Li, Wei Zhang, Jing Wang, Richard A Lewis, Lee-Jun Wong. PLoS One 2016
6
16

Molecular findings from 537 individuals with inherited retinal disease.
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, James O'Sullivan, Simon G Williams, Janine A Lamb, Binay Panda, Panagiotis I Sergouniotis, Rachel L Gillespie, Stephen P Daiger,[...]. J Med Genet 2016
99
16

Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.
Moon-Woo Seong, Soo Hyun Seo, Young Suk Yu, Jeong-Min Hwang, Sung Im Cho, Eun Kyung Ra, Hyunwoong Park, Seung Jun Lee, Ji Yeon Kim, Sung Sup Park. J Mol Diagn 2015
16
16

A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.
M Michaelides, G E Holder, D M Hunt, F W Fitzke, A C Bird, A T Moore. Br J Ophthalmol 2005
50
16

Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.
Suzanne E de Bruijn, Sanne K Verbakel, Erik de Vrieze, Hannie Kremer, Frans P M Cremers, Carel B Hoyng, L Ingeborgh van den Born, Susanne Roosing. J Med Genet 2018
6
16

An informatics approach to analyzing the incidentalome.
Jonathan S Berg, Michael Adams, Nassib Nassar, Chris Bizon, Kristy Lee, Charles P Schmitt, Kirk C Wilhelmsen, James P Evans. Genet Med 2013
107
16


Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).
Samantha Johnson, Stephanie Halford, Alex G Morris, Reshma J Patel, Susan E Wilkie, Alison J Hardcastle, Anthony T Moore, Kang Zhang, David M Hunt. Genomics 2003
68
16

Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles.
Aravind Subramanian, Pablo Tamayo, Vamsi K Mootha, Sayan Mukherjee, Benjamin L Ebert, Michael A Gillette, Amanda Paulovich, Scott L Pomeroy, Todd R Golub, Eric S Lander,[...]. Proc Natl Acad Sci U S A 2005
16

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.
Goranka Tanackovic, Adriana Ransijn, Philippe Thibault, Sherif Abou Elela, Roscoe Klinck, Eliot L Berson, Benoit Chabot, Carlo Rivolta. Hum Mol Genet 2011
85
16

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
91
16

Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.
Sara J Bowne, Stephen P Daiger, Kimberly A Malone, John R Heckenlively, Avril Kennan, Peter Humphries, Dianna Hughbanks-Wheaton, David G Birch, Qin Liu, Eric A Pierce,[...]. Mol Vis 2003
28
16


The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
Samantha R De Silva, Gavin Arno, Anthony G Robson, Ana Fakin, Nikolas Pontikos, Moin D Mohamed, Alan C Bird, Anthony T Moore, Michel Michaelides, Andrew R Webster,[...]. Prog Retin Eye Res 2021
32
16

No preferential mode of inheritance for highly constrained genes.
Alexandre Fabre, Julien Mancini. Intractable Rare Dis Res 2022
2
50

Epidemiology of blindness in children.
Ameenat Lola Solebo, Lucinda Teoh, Jugnoo Rahi. Arch Dis Child 2017
125
16


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.