A citation-based method for searching scientific literature

Zhong Ren, Gundula Povysil, Joseph A Hostyk, Hongzhu Cui, Nitin Bhardwaj, David B Goldstein. BMC Bioinformatics 2021
Times Cited: 6







List of co-cited articles
17 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
66

The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
50

Assessing the Role of Rare Genetic Variation in Patients With Heart Failure.
Gundula Povysil, Olympe Chazara, Keren J Carss, Sri V V Deevi, Quanli Wang, Javier Armisen, Dirk S Paul, Christopher B Granger, John Kjekshus, Vimla Aggarwal,[...]. JAMA Cardiol 2021
12
33

Robust relationship inference in genome-wide association studies.
Ani Manichaikul, Josyf C Mychaleckyj, Stephen S Rich, Kathy Daly, Michèle Sale, Wei-Min Chen. Bioinformatics 2010
33

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.
Pablo Cingolani, Adrian Platts, Le Lily Wang, Melissa Coon, Tung Nguyen, Luan Wang, Susan J Land, Xiangyi Lu, Douglas M Ruden. Fly (Austin) 2012
33

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Caitlin A Bennett, Slavé Petrovski, Karen L Oliver, Samuel F Berkovic. Neurol Genet 2017
24
33


From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
Geraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, Ryan Poplin, Guillermo Del Angel, Ami Levy-Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault,[...]. Curr Protoc Bioinformatics 2013
33

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Joshua Traynelis, Michael Silk, Quanli Wang, Samuel F Berkovic, Liping Liu, David B Ascher, David J Balding, Slavé Petrovski. Genome Res 2017
89
33

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
692
33

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
Patrick May, Simon Girard, Merle Harrer, Dheeraj R Bobbili, Julian Schubert, Stefan Wolking, Felicitas Becker, Pamela Lachance-Touchette, Caroline Meloche, Micheline Gravel,[...]. Lancet Neurol 2018
47
33


The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
33

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
33

The Sequence Alignment/Map format and SAMtools.
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
33

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K Ruzzo, Yi-Fan Lu, K Melodi McSweeney, Bruria Ben-Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi,[...]. Genet Med 2015
210
33

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Slavé Petrovski, Vimla Aggarwal, Jessica L Giordano, Melissa Stosic, Karen Wou, Louise Bier, Erica Spiegel, Kelly Brennan, Nicholas Stong, Vaidehi Jobanputra,[...]. Lancet 2019
188
33

A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.
Ronald G Lafrenière, M Zameel Cader, Jean-François Poulin, Isabelle Andres-Enguix, Maryse Simoneau, Namrata Gupta, Karine Boisvert, François Lafrenière, Shannon McLaughlan, Marie-Pierre Dubé,[...]. Nat Med 2010
234
16

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Kathleen M Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis-Juan, Keren J Carss, Emily Bryant, Adi Reich, Amy L Schneider,[...]. Am J Hum Genet 2019
17
16

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.
Kevin K Ogden, Wenjuan Chen, Sharon A Swanger, Miranda J McDaniel, Linlin Z Fan, Chun Hu, Anel Tankovic, Hirofumi Kusumoto, Gabrielle J Kosobucki, Anthony J Schulien,[...]. PLoS Genet 2017
81
16

UMAP reveals cryptic population structure and phenotype heterogeneity in large genomic cohorts.
Alex Diaz-Papkovich, Luke Anderson-Trocmé, Chief Ben-Eghan, Simon Gravel. PLoS Genet 2019
67
16

GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Vincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, Katie F M Marwick, Gabrielle Rudolf, Julitta de Bellescize, Saskia Biskup, Eva H Brilstra, Oebele F Brouwer, Petra M C Callenbach,[...]. Brain 2019
68
16

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Jiale Xiang, Jiyun Yang, Lisha Chen, Qiang Chen, Haiyan Yang, Chengcheng Sun, Qing Zhou, Zhiyu Peng. Sci Rep 2020
13
16

Genic intolerance to functional variation and the interpretation of personal genomes.
Slavé Petrovski, Quanli Wang, Erin L Heinzen, Andrew S Allen, David B Goldstein. PLoS Genet 2013
596
16

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.
Candace T Myers, Georgina Hollingsworth, Alison M Muir, Amy L Schneider, Zoe Thuesmunn, Allison Knupp, Chontelle King, Amy Lacroix, Michele G Mehaffey, Samuel F Berkovic,[...]. N Engl J Med 2018
66
16

Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data.
Goo Jun, Matthew Flickinger, Kurt N Hetrick, Jane M Romm, Kimberly F Doheny, Gonçalo R Abecasis, Michael Boehnke, Hyun Min Kang. Am J Hum Genet 2012
236
16

Research progress on adenosine in central nervous system diseases.
Ying-Jiao Liu, Jiao Chen, Xun Li, Xin Zhou, Yao-Mei Hu, Shi-Feng Chu, Ye Peng, Nai-Hong Chen. CNS Neurosci Ther 2019
39
16


MeCP2 mutations in children with and without the phenotype of Rett syndrome.
K Hoffbuhr, J M Devaney, B LaFleur, N Sirianni, C Scacheri, J Giron, J Schuette, J Innis, M Marino, M Philippart,[...]. Neurology 2001
181
16

Hypertension, seizures, and epilepsy: a review on pathophysiology and management.
Sara Gasparini, Edoardo Ferlazzo, Chiara Sueri, Vittoria Cianci, Michele Ascoli, Salvatore M Cavalli, Ettore Beghi, Vincenzo Belcastro, Amedeo Bianchi, Paolo Benna,[...]. Neurol Sci 2019
28
16

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.
Jae Seok Lim, Ramu Gopalappa, Se Hoon Kim, Suresh Ramakrishna, Minji Lee, Woo-Il Kim, Junho Kim, Sang Min Park, Junehawk Lee, Jung-Hwa Oh,[...]. Am J Hum Genet 2017
100
16

Transcript expression-aware annotation improves rare variant interpretation.
Beryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, Eleanor G Seaby, Nicholas A Watts, Moriel Singer-Berk, Jonathan M Mudge, Juha Karjalainen, F Kyle Satterstrom, Anne H O'Donnell-Luria,[...]. Nature 2020
50
16


Database resources of the National Center for Biotechnology Information.
Eric W Sayers, Tanya Barrett, Dennis A Benson, Evan Bolton, Stephen H Bryant, Kathi Canese, Vyacheslav Chetvernin, Deanna M Church, Michael DiCuccio, Scott Federhen,[...]. Nucleic Acids Res 2011
443
16

ILAE official report: a practical clinical definition of epilepsy.
Robert S Fisher, Carlos Acevedo, Alexis Arzimanoglou, Alicia Bogacz, J Helen Cross, Christian E Elger, Jerome Engel, Lars Forsgren, Jacqueline A French, Mike Glynn,[...]. Epilepsia 2014
16

Identification of Misclassified ClinVar Variants via Disease Population Prevalence.
Naisha Shah, Ying-Chen Claire Hou, Hung-Chun Yu, Rachana Sainger, C Thomas Caskey, J Craig Venter, Amalio Telenti. Am J Hum Genet 2018
68
16

The descriptive epidemiology of epilepsy-a review.
Poonam Nina Banerjee, David Filippi, W Allen Hauser. Epilepsy Res 2009
451
16

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
Maxime G Blanchard, Marjolein H Willemsen, Jaclyn B Walker, Sulayman D Dib-Hajj, Stephen G Waxman, Marjolijn C J Jongmans, Tjitske Kleefstra, Bart P van de Warrenburg, Peter Praamstra, Joost Nicolai,[...]. J Med Genet 2015
88
16

ClinVar: improving access to variant interpretations and supporting evidence.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth R Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang,[...]. Nucleic Acids Res 2018
16

The genetic landscape of the epileptic encephalopathies of infancy and childhood.
Amy McTague, Katherine B Howell, J Helen Cross, Manju A Kurian, Ingrid E Scheffer. Lancet Neurol 2016
288
16

ClinVar: public archive of relationships among sequence variation and human phenotype.
Melissa J Landrum, Jennifer M Lee, George R Riley, Wonhee Jang, Wendy S Rubinstein, Deanna M Church, Donna R Maglott. Nucleic Acids Res 2014
16


ClinGen--the Clinical Genome Resource.
Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, Carlos D Bustamante, James P Evans, Melissa J Landrum, David H Ledbetter, Donna R Maglott, Christa Lese Martin, Robert L Nussbaum,[...]. N Engl J Med 2015
588
16


The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes.
Kim D Pruitt, Jennifer Harrow, Rachel A Harte, Craig Wallin, Mark Diekhans, Donna R Maglott, Steve Searle, Catherine M Farrell, Jane E Loveland, Barbara J Ruef,[...]. Genome Res 2009
384
16

The phenotypic spectrum of SCN8A encephalopathy.
Jan Larsen, Gemma L Carvill, Elena Gardella, Gerhard Kluger, Gudrun Schmiedel, Nina Barisic, Christel Depienne, Eva Brilstra, Yuan Mang, Jens Erik Klint Nielsen,[...]. Neurology 2015
183
16

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, Rikke S Møller, Milen Velinov, Natalia Dolzhanskaya, Eric Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang,[...]. J Med Genet 2016
31
16

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Linda S Weaving, John Christodoulou, Sarah L Williamson, Kathie L Friend, Olivia L D McKenzie, Hayley Archer, Julie Evans, Angus Clarke, Gregory J Pelka, Patrick P L Tam,[...]. Am J Hum Genet 2004
326
16

Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
Na He, Zhi-Jian Lin, Jie Wang, Feng Wei, Heng Meng, Xiao-Rong Liu, Qian Chen, Tao Su, Yi-Wu Shi, Yong-Hong Yi,[...]. Genet Med 2019
25
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.