A citation-based method for searching scientific literature


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



Times Cited
  Times     Co-cited
Similarity


Outcome of Cochlear Implantation in Prelingually Deafened Children According to Molecular Genetic Etiology.
Joo Hyun Park, Ah Reum Kim, Jin Hee Han, Seong Dong Kim, Shin Hye Kim, Ja-Won Koo, Seung Ha Oh, Byung Yoon Choi. Ear Hear 2017
20
100

Sensorineural hearing loss in children.
Richard J H Smith, James F Bale, Karl R White. Lancet 2005
409
100

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie,[...]. Genet Med 2016
203
100

Next-generation diagnostics and disease-gene discovery with the Exomiser.
Damian Smedley, Julius O B Jacobsen, Marten Jäger, Sebastian Köhler, Manuel Holtgrewe, Max Schubach, Enrico Siragusa, Tomasz Zemojtel, Orion J Buske, Nicole L Washington,[...]. Nat Protoc 2015
112
100

Newborn hearing screening--a silent revolution.
Cynthia C Morton, Walter E Nance. N Engl J Med 2006
849
100

Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
819
100

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
Damian Smedley, Max Schubach, Julius O B Jacobsen, Sebastian Köhler, Tomasz Zemojtel, Malte Spielmann, Marten Jäger, Harry Hochheiser, Nicole L Washington, Julie A McMurry,[...]. Am J Hum Genet 2016
102
100


Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
Marc V Singleton, Stephen L Guthery, Karl V Voelkerding, Karin Chen, Brett Kennedy, Rebecca L Margraf, Jacob Durtschi, Karen Eilbeck, Martin G Reese, Lynn B Jorde,[...]. Am J Hum Genet 2014
108
100

Identification of novel functional null allele of SLC26A4 associated with enlarged vestibular aqueduct and its possible implication.
Jeong Hun Jang, Jinsei Jung, Ah Reum Kim, Young Mi Cho, Min Young Kim, Sang Yeon Lee, Jae Young Choi, Jun Ho Lee, Byung Yoon Choi. Audiol Neurootol 2014
6
100

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Andrea M Oza, Marina T DiStefano, Sarah E Hemphill, Brandon J Cushman, Andrew R Grant, Rebecca K Siegert, Jun Shen, Alex Chapin, Nicole J Boczek, Lisa A Schimmenti,[...]. Hum Mutat 2018
126
100

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
J H Xia, C Y Liu, B S Tang, Q Pan, L Huang, H P Dai, B R Zhang, W Xie, D X Hu, D Zheng,[...]. Nat Genet 1998
325
100

MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants.
Kirsley Chennen, Thomas Weber, Xavière Lornage, Arnaud Kress, Johann Böhm, Julie Thompson, Jocelyn Laporte, Olivier Poch. PLoS One 2020
5
100

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, Sumit Middha, Shannon K McDonnell, Saurabh Baheti, Anthony Musolf, Qing Li, Emily Holzinger, Danielle Karyadi,[...]. Am J Hum Genet 2016
556
100

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.
G Bademci, F B Cengiz, J Foster Ii, D Duman, L Sennaroglu, O Diaz-Horta, T Atik, T Kirazli, L Olgun, H Alper,[...]. Sci Rep 2016
20
100

Congenital hearing loss.
Anna M H Korver, Richard J H Smith, Guy Van Camp, Mark R Schleiss, Maria A K Bitner-Glindzicz, Lawrence R Lustig, Shin-Ichi Usami, An N Boudewyns. Nat Rev Dis Primers 2017
142
100

Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data.
Fanny Thuriot, Caroline Buote, Elaine Gravel, Sébastien Chénier, Valérie Désilets, Bruno Maranda, Paula J Waters, Pierre-Etienne Jacques, Sébastien Lévesque. Genet Med 2018
10
100

In silico prediction of splice-altering single nucleotide variants in the human genome.
Xueqiu Jian, Eric Boerwinkle, Xiaoming Liu. Nucleic Acids Res 2014
210
100

Clinical interpretation and implications of whole-genome sequencing.
Frederick E Dewey, Megan E Grove, Cuiping Pan, Benjamin A Goldstein, Jonathan A Bernstein, Hassan Chaib, Jason D Merker, Rachel L Goldfeder, Gregory M Enns, Sean P David,[...]. JAMA 2014
292
100

Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population.
Jae Joon Han, Pham Dinh Nguyen, Doo-Yi Oh, Jin Hee Han, Ah-Reum Kim, Min Young Kim, Hye-Rim Park, Lam Huyen Tran, Nguyen Huu Dung, Ja-Won Koo,[...]. Sci Rep 2019
9
100

VarFish: comprehensive DNA variant analysis for diagnostics and research.
Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen, Stefan Mundlos, Alexej Knaus, Uwe Kornak, Dominik Seelow, Lara Segebrecht, Malte Spielmann, Björn Fischer-Zirnsak,[...]. Nucleic Acids Res 2020
14
100

Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases.
Daniel Greene, Sylvia Richardson, Ernest Turro. Am J Hum Genet 2016
22
100

Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Hane Lee, Joshua L Deignan, Naghmeh Dorrani, Samuel P Strom, Sibel Kantarci, Fabiola Quintero-Rivera, Kingshuk Das, Traci Toy, Bret Harry, Michael Yourshaw,[...]. JAMA 2014
567
100

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
100

Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation.
Mee Hyun Song, Jinsei Jung, John Hoon Rim, Hye Ji Choi, Hack June Lee, Byunghwa Noh, Jun Suk Lee, Heon Yung Gee, Jae Young Choi. Ear Hear 2020
10
100

Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients.
Xin Li, Ruen Yao, Xin Tan, Niu Li, Yu Ding, Juan Li, Guoying Chang, Yao Chen, Lizhuang Ma, Jian Wang,[...]. Clin Genet 2019
12
100

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
Marco Tartaglia, Kamini Kalidas, Adam Shaw, Xiaoling Song, Dan L Musat, Ineke van der Burgt, Han G Brunner, Débora R Bertola, Andrew Crosby, Andra Ion,[...]. Am J Hum Genet 2002
455
100

Trafficking abnormality and ER stress underlie functional deficiency of hearing impairment-associated connexin-31 mutants.
Kun Xia, Hong Ma, Hui Xiong, Qian Pan, Liangqun Huang, Danling Wang, Zhuohua Zhang. Protein Cell 2010
12
100

De novo large genomic deletions involving POU3F4 in incomplete partition type III inner ear anomaly in East Asian populations and implications for genetic counseling.
Jin Woong Choi, ByungJoo Min, AhReum Kim, Ja-Won Koo, Chong-Sun Kim, Woong-Yang Park, Juyong Chung, Veronica Kim, Yoon-Jong Ryu, Shin Hye Kim,[...]. Otol Neurotol 2015
17
100

DeepPVP: phenotype-based prioritization of causative variants using deep learning.
Imane Boudellioua, Maxat Kulmanov, Paul N Schofield, Georgios V Gkoutos, Robert Hoehndorf. BMC Bioinformatics 2019
15
100

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.
Chao Wu, Batsal Devkota, Perry Evans, Xiaonan Zhao, Samuel W Baker, Rojeen Niazi, Kajia Cao, Michael A Gonzalez, Pushkala Jayaraman, Laura K Conlin,[...]. Eur J Hum Genet 2019
7
100

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Go Hun Seo, Taeho Kim, In Hee Choi, Jung-Young Park, Jungsul Lee, Sehwan Kim, Dhong-Gun Won, Arum Oh, Yena Lee, Jeongmin Choi,[...]. Clin Genet 2020
12
100

Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells.
Li-Qiang He, Yu Liu, Fang Cai, Zhi-Ping Tan, Qian Pan, De-Sheng Liang, Zhi-Gao Long, Ling-Qian Wu, Liang-Qun Huang, He-Ping Dai,[...]. Acta Biochim Biophys Sin (Shanghai) 2005
20
100

Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
Gendong Yao, Dingli Chen, Huijun Wang, Shouxia Li, Jin Zhang, Zhixing Feng, Lili Guo, Zhiming Yang, Sujun Yang, Caixia Sun,[...]. Acta Otolaryngol 2013
6
100


PhenoPro: a novel toolkit for assisting in the diagnosis of Mendelian disease.
Zixiu Li, Feng Zhang, Yukai Wang, Yue Qiu, Yang Wu, Yulan Lu, Lin Yang, William J Qu, Huijun Wang, Wenhao Zhou,[...]. Bioinformatics 2019
11
100

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.
R Varga, P M Kelley, B J Keats, A Starr, S M Leal, E Cohn, W J Kimberling. J Med Genet 2003
160
100

RNA-sequencing analysis reveals the hepatotoxic mechanism of perfluoroalkyl alternatives, HFPO2 and HFPO4, following exposure in mice.
Jianshe Wang, Xiaoyang Wang, Nan Sheng, Xiujuan Zhou, Ruina Cui, Hongxia Zhang, Jiayin Dai. J Appl Toxicol 2017
26
100

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.
B Y Choi, A C Madeo, K A King, C K Zalewski, S P Pryor, J A Muskett, W E Nance, J A Butman, C C Brewer, A J Griffith. J Med Genet 2009
36
100

Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.
Mengge Zhao, James M Havrilla, Li Fang, Ying Chen, Jacqueline Peng, Cong Liu, Chao Wu, Mahdi Sarmady, Pablo Botas, Julián Isla,[...]. NAR Genom Bioinform 2020
10
100

Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.
Bong Jik Kim, Doo-Yi Oh, Jin Hee Han, Jayoung Oh, Min Young Kim, Hye-Rim Park, Jungirl Seok, Sung-Dong Cho, Sang-Yeon Lee, Yoonjoong Kim,[...]. Genet Med 2020
9
100

Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.
Jian Wang, Ying-ying Fan, Shu-juan Wang, Peng-Fei Liang, Jin-ling Wang, Jian-hua Qiu. PLoS One 2011
11
100

Clinical diagnostics in human genetics with semantic similarity searches in ontologies.
Sebastian Köhler, Marcel H Schulz, Peter Krawitz, Sebastian Bauer, Sandra Dölken, Claus E Ott, Christine Mundlos, Denise Horn, Stefan Mundlos, Peter N Robinson. Am J Hum Genet 2009
248
100

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
Tao Yang, Hilmar Vidarsson, Sandra Rodrigo-Blomqvist, Sally S Rosengren, Sven Enerback, Richard J H Smith. Am J Hum Genet 2007
138
100

Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.
Bong Jik Kim, Jeong Hun Jang, Jin Hee Han, Hye-Rim Park, Doo Yi Oh, Seungmin Lee, Min Young Kim, Ah Reum Kim, Chung Lee, Nayoung K D Kim,[...]. J Transl Med 2018
8
100

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.
Kristianna Mey, Ali A Muhamad, Lisbeth Tranebjaerg, Nanna D Rendtorff, Stig H Rasmussen, Michael Bille, Per Cayé-Thomasen. Laryngoscope 2019
12
100

Identifying facial phenotypes of genetic disorders using deep learning.
Yaron Gurovich, Yair Hanani, Omri Bar, Guy Nadav, Nicole Fleischer, Dekel Gelbman, Lina Basel-Salmon, Peter M Krawitz, Susanne B Kamphausen, Martin Zenker,[...]. Nat Med 2019
146
100

Genome analysis and knowledge-driven variant interpretation with TGex.
Dvir Dahary, Yaron Golan, Yaron Mazor, Ofer Zelig, Ruth Barshir, Michal Twik, Tsippi Iny Stein, Guy Rosner, Revital Kariv, Fei Chen,[...]. BMC Med Genomics 2019
9
100

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
100

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.
Mengnan Li, Shin-Ya Nishio, Chie Naruse, Meghan Riddell, Sabrina Sapski, Tatsuya Katsuno, Takao Hikita, Fatemeh Mizapourshafiyi, Fiona M Smith, Leanne T Cooper,[...]. Nat Commun 2020
8
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.