A citation-based method for searching scientific literature

Lambert Moyon, Camille Berthelot, Alexandra Louis, Nga Thi Thuy Nguyen, Hugues Roest Crollius. PLoS Genet 2022
Times Cited: 2

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

Times Cited
  Times     Co-cited

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

Non-coding genetic variants in human disease.
Feng Zhang, James R Lupski. Hum Mol Genet 2015

Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease.
Noor M Ghiasvand, Dellaney D Rudolph, Mohammad Mashayekhi, Joseph A Brzezinski, Daniel Goldman, Tom Glaser. Nat Neurosci 2011

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

Choroideremia Gene Therapy Phase 2 Clinical Trial: 24-Month Results.
Byron L Lam, Janet L Davis, Ninel Z Gregori, Robert E MacLaren, Aniz Girach, Jennifer D Verriotto, Belen Rodriguez, Potyra R Rosa, Xiaojun Zhang, William J Feuer. Am J Ophthalmol 2019

Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease.
Timothy J Cherry, Marty G Yang, David A Harmin, Peter Tao, Andrew E Timms, Miriam Bauwens, Rando Allikmets, Evan M Jones, Rui Chen, Elfride De Baere,[...]. Proc Natl Acad Sci U S A 2020

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
Nikolas Pontikos, Gavin Arno, Neringa Jurkute, Elena Schiff, Rola Ba-Abbad, Samantha Malka, Ainoa Gimenez, Michalis Georgiou, Genevieve Wright, Monica Armengol,[...]. Ophthalmology 2020

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
David Baux, Lise Larrieu, Catherine Blanchet, Christian Hamel, Safouane Ben Salah, Anne Vielle, Brigitte Gilbert-Dussardier, Muriel Holder, Patrick Calvas, Nicole Philip,[...]. Hum Mutat 2007

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
Lucia A Hindorff, Praveen Sethupathy, Heather A Junkins, Erin M Ramos, Jayashri P Mehta, Francis S Collins, Teri A Manolio. Proc Natl Acad Sci U S A 2009

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

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne, Clara Gaff, Susan M White, Tiong Yang Tan. Eur J Hum Genet 2018

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

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly.
Valerie A Schneider, Tina Graves-Lindsay, Kerstin Howe, Nathan Bouk, Hsiu-Chuan Chen, Paul A Kitts, Terence D Murphy, Kim D Pruitt, Françoise Thibaud-Nissen, Derek Albracht,[...]. Genome Res 2017

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma.
S H Friend, R Bernards, S Rogelj, R A Weinberg, J M Rapaport, D M Albert, T P Dryja. Nature 1986

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ilham Ratbi, Kim D Falkenberg, Manou Sommen, Nada Al-Sheqaih, Soukaina Guaoua, Geert Vandeweyer, Jill E Urquhart, Kate E Chandler, Simon G Williams, Neil A Roberts,[...]. Am J Hum Genet 2015

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

Coming of age: ten years of next-generation sequencing technologies.
Sara Goodwin, John D McPherson, W Richard McCombie. Nat Rev Genet 2016

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

Rapid and pervasive changes in genome-wide enhancer usage during mammalian development.
Alex S Nord, Matthew J Blow, Catia Attanasio, Jennifer A Akiyama, Amy Holt, Roya Hosseini, Sengthavy Phouanenavong, Ingrid Plajzer-Frick, Malak Shoukry, Veena Afzal,[...]. Cell 2013

Inherited retinal degeneration current genetics practices - a needs assessment.
Sydney Strait, Rebecca Loman, Lindsay Erickson, Meghan DeBenedictis. Ophthalmic Genet 2020

Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
G A Fishman, E M Stone, S Grover, D J Derlacki, H L Haines, R R Hockey. Arch Ophthalmol 1999

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

Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.
Kerry E Goetz, Melissa J Reeves, Shaina Gagadam, Delphine Blain, Chelsea Bender, Cara Lwin, Amelia Naik, Santa J Tumminia, Robert B Hufnagel. Am J Med Genet C Semin Med Genet 2020

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
David T Miller, Kristy Lee, Adam S Gordon, Laura M Amendola, Kathy Adelman, Sherri J Bale, Wendy K Chung, Michael H Gollob, Steven M Harrison, Gail E Herman,[...]. Genet Med 2021

Reanalysis of Clinical Exome Sequencing Data.
Pengfei Liu, Linyan Meng, Elizabeth A Normand, Fan Xia, Xiaofei Song, Andrew Ghazi, Jill Rosenfeld, Pilar L Magoulas, Alicia Braxton, Patricia Ward,[...]. N Engl J Med 2019

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

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
Jasmine L F Fung, Mullin H C Yu, Shushu Huang, Claudia C Y Chung, Marcus C Y Chan, Sander Pajusalu, Christopher C Y Mak, Vivian C C Hui, Mandy H Y Tsang, Kit San Yeung,[...]. NPJ Genom Med 2020

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

MEF2D drives photoreceptor development through a genome-wide competition for tissue-specific enhancers.
Milena M Andzelm, Timothy J Cherry, David A Harmin, Annabel C Boeke, Charlotte Lee, Martin Hemberg, Basil Pawlyk, Athar N Malik, Steven W Flavell, Michael A Sandberg,[...]. Neuron 2015

Whole-genome sequencing of patients with rare diseases in a national health system.
Ernest Turro, William J Astle, Karyn Megy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis-Juan, Mattia Frontini, Chantal Thys,[...]. Nature 2020

Challenges to Routine Genetic Testing for Inherited Retinal Dystrophies.
Albert S Li, Donna MacKay, Howard Chen, Rithwick Rajagopal, Rajendra S Apte. Ophthalmology 2019

Artificial intelligence and deep learning in ophthalmology.
Daniel Shu Wei Ting, Louis R Pasquale, Lily Peng, John Peter Campbell, Aaron Y Lee, Rajiv Raman, Gavin Siew Wei Tan, Leopold Schmetterer, Pearse A Keane, Tien Yin Wong. Br J Ophthalmol 2019

Mitochondrial Retinopathy.
Johannes Birtel, Christina von Landenberg, Martin Gliem, Carla Gliem, Jens Reimann, Wolfram S Kunz, Philipp Herrmann, Christian Betz, Richard Caswell, Victoria Nesbitt,[...]. Ophthalmol Retina 2022

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Maha S Zaki, Raoul Heller, Michaela Thoenes, Gudrun Nürnberg, Gabi Stern-Schneider, Peter Nürnberg, Srikanth Karnati, Daniel Swan, Ekram Fateen, Kerstin Nagel-Wolfrum,[...]. Hum Mutat 2016

High-resolution genome-wide functional dissection of transcriptional regulatory regions and nucleotides in human.
Xinchen Wang, Liang He, Sarah M Goggin, Alham Saadat, Li Wang, Nasa Sinnott-Armstrong, Melina Claussnitzer, Manolis Kellis. Nat Commun 2018

Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.
Joseph Park, Anastasia M Lucas, Xinyuan Zhang, Kumardeep Chaudhary, Judy H Cho, Girish Nadkarni, Amanda Dobbyn, Geetha Chittoor, Navya S Josyula, Nathan Katz,[...]. Nat Med 2021

Genetic testing for inherited eye disease.
Edwin M Stone. Arch Ophthalmol 2007

Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Ta-Ching Chen, Ding-Siang Huang, Chao-Wen Lin, Chang-Hao Yang, Chung-May Yang, Victoria Y Wang, Jou-Wei Lin, Allen Chilun Luo, Fung-Rong Hu, Pei-Lung Chen. NPJ Genom Med 2021

ncVarDB: a manually curated database for pathogenic non-coding variants and benign controls.
Harry Biggs, Padmini Parthasarathy, Alexandra Gavryushkina, Paul P Gardner. Database (Oxford) 2020

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

Ranking of non-coding pathogenic variants and putative essential regions of the human genome.
Alex Wells, David Heckerman, Ali Torkamani, Li Yin, Jonathan Sebat, Bing Ren, Amalio Telenti, Julia di Iulio. Nat Commun 2019

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.
Katharina Schwarze, James Buchanan, Jenny C Taylor, Sarah Wordsworth. Genet Med 2018

A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations.
Kaoru Fujinami, Noemi Lois, Rajarshi Mukherjee, Vikki A McBain, Kazushige Tsunoda, Kazuo Tsubota, Edwin M Stone, Fred W Fitzke, Catey Bunce, Anthony T Moore,[...]. Invest Ophthalmol Vis Sci 2013

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, Simon G Williams, Panagiotis I Sergouniotis, James O'Sullivan, Janine A Lamb, Rahat Perveen, Georgina Hall, William G Newman,[...]. Ophthalmology 2016

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
Kiely N James, Michelle M Clark, Brandon Camp, Cyrielle Kint, Peter Schols, Sergey Batalov, Benjamin Briggs, Narayanan Veeraraghavan, Shimul Chowdhury, Stephen F Kingsmore. NPJ Genom Med 2020

The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1.
Rupert W Strauss, Alex Ho, Beatriz Muñoz, Artur V Cideciyan, José-Alain Sahel, Janet S Sunness, David G Birch, Paul S Bernstein, Michel Michaelides, Elias I Traboulsi,[...]. Ophthalmology 2016

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.