A citation-based method for searching scientific literature

Eleanor McVeigh, Harriet Jones, Graeme Black, Georgina Hall. J Community Genet 2019
Times Cited: 1







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



Times Cited
  Times     Co-cited
Similarity


Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
Frauke Coppieters, Anne Laure Todeschini, Takuro Fujimaki, Annelot Baert, Marieke De Bruyne, Caroline Van Cauwenbergh, Hannah Verdin, Miriam Bauwens, Maté Ongenaert, Mineo Kondo,[...]. Hum Mutat 2015
14
100

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.
Saoud Al-Khuzaei, Suzanne Broadgate, Stephanie Halford, Jasleen K Jolly, Morag Shanks, Penny Clouston, Susan M Downes. Genes (Basel) 2020
1
100

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Xinran Dong, Bo Liu, Lin Yang, Huijun Wang, Bingbing Wu, Renchao Liu, Hongbo Chen, Xiang Chen, Sha Yu, Bin Chen,[...]. J Med Genet 2020
13
100

ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing.
Frida Jonsson, Ida Maria Westin, Lennart Österman, Ola Sandgren, Marie Burstedt, Monica Holmberg, Irina Golovleva. Acta Ophthalmol 2018
6
100

Genetic variation and the de novo assembly of human genomes.
Mark J P Chaisson, Richard K Wilson, Evan E Eichler. Nat Rev Genet 2015
169
100

Whole-genome de novo assemblies reveal extensive structural variations and dynamic organelle-to-nucleus DNA transfers in African and Asian rice.
Xin Ma, Jinjian Fan, Yongzhen Wu, Shuangshuang Zhao, Xu Zheng, Chuanqing Sun, Lubin Tan. Plant J 2020
4
100

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
36
100

Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia.
Katie M Litts, Erica N Woertz, Michalis Georgiou, Emily J Patterson, Byron L Lam, Gerald A Fishman, Mark E Pennesi, Christine N Kay, William W Hauswirth, Michel Michaelides,[...]. Transl Vis Sci Technol 2021
2
100

Repetitive elements may comprise over two-thirds of the human genome.
A P Jason de Koning, Wanjun Gu, Todd A Castoe, Mark A Batzer, David D Pollock. PLoS Genet 2011
577
100


Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.
Johannes Birtel, Martin Gliem, Kristina Hess, Theresa H Birtel, Frank G Holz, Ulrich Zechner, Hanno J Bolz, Philipp Herrmann. Genes (Basel) 2020
3
100

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.
Suma P Shankar, Dianna K Hughbanks-Wheaton, David G Birch, Lori S Sullivan, Karen N Conneely, Sara J Bowne, Edwin M Stone, Stephen P Daiger. Invest Ophthalmol Vis Sci 2016
8
100

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Gabrielle Wheway, Andrew Douglas, Diana Baralle, Elsa Guillot. Exp Eye Res 2020
11
100

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.
Sanne K Verbakel, Zeinab Fadaie, B Jeroen Klevering, Maria M van Genderen, Ilse Feenstra, Frans P M Cremers, Carel B Hoyng, Susanne Roosing. Mol Genet Genomic Med 2019
4
100

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.
Yasmin Tatour, Jonathan Tamaiev, Shamaly Shamaly, Roberto Colombo, Ephrat Bril, Tom Rabinowitz, Alona Yaakobi, Eedy Mezer, Rina Leibu, Beatrice Tiosano,[...]. Mol Vis 2019
7
100

PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture.
Leila Azizzadeh Pormehr, Shahin Ahmadian, Narsis Daftarian, Seyed Ahmad Mousavi, Mahshid Shafiezadeh. Eur J Hum Genet 2020
6
100

Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy.
Chunxia Wang, Katsuhiro Hosono, Shu Kachi, Kimiko Suto, Makoto Nakamura, Hiroko Terasaki, Yozo Miyake, Yoshihiro Hotta, Shinsei Minoshima. Hum Genome Var 2016
4
100

A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes.
Shari R Atilano, M Cristina Kenney, Adriana D Briscoe, Kimberly A Jameson. Mol Vis 2020
1
100

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.
Atta Ur Rehman, Virginie G Peter, Mathieu Quinodoz, Abdur Rashid, Syed Akhtar Khan, Andrea Superti-Furga, Carlo Rivolta. Genes (Basel) 2019
4
100

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Dongheon Surl, Saeam Shin, Seung-Tae Lee, Jong Rak Choi, Junwon Lee, Suk Ho Byeon, Sueng-Han Han, Hyun Taek Lim, Jinu Han. Mol Vis 2020
4
100


Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT.
João Pedro Marques, Ana Luísa Carvalho, José Henriques, Joaquim Neto Murta, Jorge Saraiva, Rufino Silva. Orphanet J Rare Dis 2020
1
100

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Amit Tiwari, Angela Bahr, Luzy Bähr, Johannes Fleischhauer, Martin S Zinkernagel, Niklas Winkler, Daniel Barthelmes, Lieselotte Berger, Christina Gerth-Kahlert, John Neidhardt,[...]. Sci Rep 2016
39
100

The Impact of Inherited Retinal Diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a Cost-of-Illness Perspective.
Orla Galvin, Gloria Chi, Laura Brady, Claire Hippert, Marta Del Valle Rubido, Avril Daly, Michel Michaelides. Clin Ophthalmol 2020
11
100

Improved Retinal Organoid Differentiation by Modulating Signaling Pathways Revealed by Comparative Transcriptome Analyses with Development In Vivo.
Matthew J Brooks, Holly Y Chen, Ryan A Kelley, Anupam K Mondal, Kunio Nagashima, Natalia De Val, Tiansen Li, Vijender Chaitankar, Anand Swaroop. Stem Cell Reports 2019
34
100

Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
Almudena Avila-Fernandez, Marta Corton, Koji M Nishiguchi, Nelida Muñoz-Sanz, Belen Benavides-Mori, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Blanca Garcia-Sandoval, Carlo Rivolta, Carmen Ayuso. Ophthalmology 2012
34
100

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.
Friederike Kortüm, Sinja Kieninger, Pascale Mazzola, Susanne Kohl, Bernd Wissinger, Holger Prokisch, Katarina Stingl, Nicole Weisschuh. Int J Mol Sci 2021
2
100

Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.
María González-Del Pozo, Marta Martín-Sánchez, Nereida Bravo-Gil, Cristina Méndez-Vidal, Ángel Chimenea, Enrique Rodríguez-de la Rúa, Salud Borrego, Guillermo Antiñolo. Sci Rep 2018
11
100

Deep-learning-based enhanced optic-disc photography.
Ahnul Ha, Sukkyu Sun, Young Kook Kim, Jinho Lee, Jin Wook Jeoung, Hee Chan Kim, Ki Ho Park. PLoS One 2020
1
100

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Eva Lenassi, Jill Clayton-Smith, Sofia Douzgou, Simon C Ramsden, Stuart Ingram, Georgina Hall, Claire L Hardcastle, Tracy A Fletcher, Rachel L Taylor, Jamie M Ellingford,[...]. Genet Med 2020
9
100

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Erin Zampaglione, Benyam Kinde, Emily M Place, Daniel Navarro-Gomez, Matthew Maher, Farzad Jamshidi, Sherwin Nassiri, J Alex Mazzone, Caitlin Finn, Dana Schlegel,[...]. Genet Med 2020
14
100

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
82
100

Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?
Luigi Donato, Concetta Scimone, Carmela Rinaldi, Pasquale Aragona, Silvana Briuglia, Angela D'Ascola, Rosalia D'Angelo, Antonina Sidoti. Invest Ophthalmol Vis Sci 2018
32
100

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.
Riccardo Sangermano, Mubeen Khan, Stéphanie S Cornelis, Valerie Richelle, Silvia Albert, Alejandro Garanto, Duaa Elmelik, Raheel Qamar, Dorien Lugtenberg, L Ingeborgh van den Born,[...]. Genome Res 2018
57
100

A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.
Elena Buena-Atienza, Fadi Nasser, Susanne Kohl, Bernd Wissinger. BMC Med Genet 2018
2
100

Single-base substitutions in the CHM promoter as a cause of choroideremia.
Alina Radziwon, Gavin Arno, Dianna K Wheaton, Ellen M McDonagh, Emma L Baple, Kaylie Webb-Jones, David G Birch, Andrew R Webster, Ian M MacDonald. Hum Mutat 2017
23
100

Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome.
Erika Tavares, Chen Yu Tang, Anjali Vig, Shuning Li, Gail Billingsley, Wilson Sung, Ajoy Vincent, Bhooma Thiruvahindrapuram, Elise Héon. Mol Genet Genomic Med 2019
9
100

Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
Kaylie D Jones, Dianna K Wheaton, Sara J Bowne, Lori S Sullivan, David G Birch, Rui Chen, Stephen P Daiger. Mol Vis 2017
12
100

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Zhongqi Ge, Kristen Bowles, Kerry Goetz, Hendrik P N Scholl, Feng Wang, Xinjing Wang, Shan Xu, Keqing Wang, Hui Wang, Rui Chen. Sci Rep 2015
43
100

Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa.
Feng-Juan Gao, Jian-Kang Li, Han Chen, Fang-Yuan Hu, Sheng-Hai Zhang, Yu-He Qi, Ping Xu, Dan-Dan Wang, Lu-Sheng Wang, Qing Chang,[...]. Ophthalmology 2019
22
100

A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases.
Elsebet Ostergaard, Morten Duno, Mustafa Batbayli, Kaj Vilhelmsen, Thomas Rosenberg. Mol Vis 2011
45
100

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Dror Sharon, Tamar Ben-Yosef, Nitza Goldenberg-Cohen, Eran Pras, Libe Gradstein, Shiri Soudry, Eedy Mezer, Dinah Zur, Anan H Abbasi, Christina Zeitz,[...]. Hum Mutat 2020
22
100

Prediction of Individual Disease Conversion in Early AMD Using Artificial Intelligence.
Ursula Schmidt-Erfurth, Sebastian M Waldstein, Sophie Klimscha, Amir Sadeghipour, Xiaofeng Hu, Bianca S Gerendas, Aaron Osborne, Hrvoje Bogunovic. Invest Ophthalmol Vis Sci 2018
48
100

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Mital Shah, Morag Shanks, Emily Packham, Jonathan Williams, Jesse Haysmoore, Robert E MacLaren, Andrea H Németh, Penny Clouston, Susan M Downes. Ophthalmic Genet 2020
6
100

Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.
Zeinab Fadaie, Mubeen Khan, Marta Del Pozo-Valero, Stéphanie S Cornelis, Carmen Ayuso, Frans P M Cremers, Susanne Roosing, The Abca Study Group. Hum Mutat 2019
19
100

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Omamah A Jiman, Rachel L Taylor, Eva Lenassi, Jill Clayton Smith, Sofia Douzgou, Jamie M Ellingford, Stephanie Barton, Claire Hardcastle, Tracy Fletcher, Christopher Campbell,[...]. Eur J Hum Genet 2020
3
100

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Irene Perea-Romero, Gema Gordo, Ionut F Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez,[...]. Sci Rep 2021
9
100

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
David T Miller, Kristy Lee, Wendy K Chung, Adam S Gordon, Gail E Herman, Teri E Klein, Douglas R Stewart, Laura M Amendola, Kathy Adelman, Sherri J Bale,[...]. Genet Med 2021
9
100

High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy.
S A Yatsenko, H A Bakos, K Vitullo, M Kedrov, A Kishore, B J Jennings, U Surti, M A Wood-Trageser, S Cercone, A N Yatsenko,[...]. Clin Genet 2016
9
100

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.
N Patel, H Alkuraya, S S Alzahrani, S R Nowailaty, M Z Seidahmed, A Alhemidan, T Ben-Omran, N G Ghazi, A Al-Aqeel, M Al-Owain,[...]. Clin Genet 2018
7
100


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.