A citation-based method for searching scientific literature

Chiara Di Resta, Silvia Galbiati, Paola Carrera, Maurizio Ferrari. EJIFCC 2018
Times Cited: 41







List of co-cited articles
100 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
24

ACMG clinical laboratory standards for next-generation sequencing.
Heidi L Rehm, Sherri J Bale, Pinar Bayrak-Toydemir, Jonathan S Berg, Kerry K Brown, Joshua L Deignan, Michael J Friez, Birgit H Funke, Madhuri R Hegde, Elaine Lyon. Genet Med 2013
535
12

The next-generation sequencing revolution and its impact on genomics.
Daniel C Koboldt, Karyn Meltz Steinberg, David E Larson, Richard K Wilson, Elaine R Mardis. Cell 2013
552
9

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
9

A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Mark A DePristo, Eric Banks, Ryan Poplin, Kiran V Garimella, Jared R Maguire, Christopher Hartl, Anthony A Philippakis, Guillermo del Angel, Manuel A Rivas, Matt Hanna,[...]. Nat Genet 2011
9

Molecular genetic testing and the future of clinical genomics.
Sara Huston Katsanis, Nicholas Katsanis. Nat Rev Genet 2013
210
9

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
9

Guidelines for diagnostic next-generation sequencing.
Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik Sistermans, Marc Sturm, Marjan Weiss,[...]. Eur J Hum Genet 2016
236
9


Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
S L Sawyer, T Hartley, D A Dyment, C L Beaulieu, J Schwartzentruber, A Smith, H M Bedford, G Bernard, F P Bernier, B Brais,[...]. Clin Genet 2016
206
7

NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.
Ana Fernandez-Marmiesse, Sofia Gouveia, Maria L Couce. Curr Med Chem 2018
56
7

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
7

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
7

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
7

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
7

A global reference for human genetic variation.
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
7

Next Generation Sequencing: From Research Area to Clinical Practice.
Chiara Di Resta, Maurizio Ferrari. EJIFCC 2018
20
15


dbSNP: the NCBI database of genetic variation.
S T Sherry, M H Ward, M Kholodov, J Baker, L Phan, E M Smigielski, K Sirotkin. Nucleic Acids Res 2001
7

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
Johan T den Dunnen, Raymond Dalgleish, Donna R Maglott, Reece K Hart, Marc S Greenblatt, Jean McGowan-Jordan, Anne-Francoise Roux, Timothy Smith, Stylianos E Antonarakis, Peter E M Taschner. Hum Mutat 2016
668
4

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Laura M Amendola, Gail P Jarvik, Michael C Leo, Heather M McLaughlin, Yassmine Akkari, Michelle D Amaral, Jonathan S Berg, Sawona Biswas, Kevin M Bowling, Laura K Conlin,[...]. Am J Hum Genet 2016
239
4

DNA sequencing with chain-terminating inhibitors.
F Sanger, S Nicklen, A R Coulson. Proc Natl Acad Sci U S A 1977
4

Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study.
Paola Carrera, Chiara Di Resta, Chiara Volonteri, Emanuela Castiglioni, Silvia Bonfiglio, Dejan Lazarevic, Davide Cittaro, Elia Stupka, Maurizio Ferrari, Marco Somaschini. Clin Chim Acta 2015
33
6

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Sapna Syngal, Randall E Brand, James M Church, Francis M Giardiello, Heather L Hampel, Randall W Burt. Am J Gastroenterol 2015
680
4

Accurate whole human genome sequencing using reversible terminator chemistry.
David R Bentley, Shankar Balasubramanian, Harold P Swerdlow, Geoffrey P Smith, John Milton, Clive G Brown, Kevin P Hall, Dirk J Evers, Colin L Barnes, Helen R Bignell,[...]. Nature 2008
4

Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches.
Chiara Di Resta, Ivana Spiga, Silvia Presi, Stefania Merella, Giovanni Battista Pipitone, Maria Pia Manitto, Giuseppe Querques, Maurizio Battaglia Parodi, Maurizio Ferrari, Paola Carrera. EJIFCC 2018
7
28

High-throughput genetic characterization of a cohort of Brugada syndrome patients.
Chiara Di Resta, Alessandro Pietrelli, Simone Sala, Paolo Della Bella, Gianluca De Bellis, Maurizio Ferrari, Roberta Bordoni, Sara Benedetti. Hum Mol Genet 2015
28
7

Exome sequencing as a tool for Mendelian disease gene discovery.
Michael J Bamshad, Sarah B Ng, Abigail W Bigham, Holly K Tabor, Mary J Emond, Deborah A Nickerson, Jay Shendure. Nat Rev Genet 2011
4

A general framework for estimating the relative pathogenicity of human genetic variants.
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
4

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady,[...]. Sci Transl Med 2017
275
4

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).
Jacqueline MacArthur, Emily Bowler, Maria Cerezo, Laurent Gil, Peggy Hall, Emma Hastings, Heather Junkins, Aoife McMahon, Annalisa Milano, Joannella Morales,[...]. Nucleic Acids Res 2017
4

Coming of age: ten years of next-generation sequencing technologies.
Sara Goodwin, John D McPherson, W Richard McCombie. Nat Rev Genet 2016
4

Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe.
Francesca Malentacchi, Irene Mancini, Ivan Brandslund, Pieter Vermeersch, Matthias Schwab, Janja Marc, Ron H N van Schaik, Gerard Siest, Elvar Theodorsson, Mario Pazzagli,[...]. Clin Chem Lab Med 2015
12
16


Personalized laboratory medicine: a patient-centered future approach.
Irena Prodan Žitnik, Darko Černe, Irene Mancini, Lisa Simi, Mario Pazzagli, Chiara Di Resta, Helena Podgornik, Barbka Repič Lampret, Katarina Trebušak Podkrajšek, Csilla Sipeky,[...]. Clin Chem Lab Med 2018
15
13

Translating genes into health.
Larry J Kricka, Chiara Di Resta. Nat Genet 2013
7
28

Reversal of neurological defects in a mouse model of Rett syndrome.
Jacky Guy, Jian Gan, Jim Selfridge, Stuart Cobb, Adrian Bird. Science 2007
750
4

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Hossein Najmabadi, Hao Hu, Masoud Garshasbi, Tomasz Zemojtel, Seyedeh Sedigheh Abedini, Wei Chen, Masoumeh Hosseini, Farkhondeh Behjati, Stefan Haas, Payman Jamali,[...]. Nature 2011
586
4

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.
Korinna Kochinke, Christiane Zweier, Bonnie Nijhof, Michaela Fenckova, Pavel Cizek, Frank Honti, Shivakumar Keerthikumar, Merel A W Oortveld, Tjitske Kleefstra, Jamie M Kramer,[...]. Am J Hum Genet 2016
130
4

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
R E Amir, I B Van den Veyver, M Wan, C Q Tran, U Francke, H Y Zoghbi. Nat Genet 1999
4

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
R Varon, C Vissinga, M Platzer, K M Cerosaletti, K H Chrzanowska, K Saar, G Beckmann, E Seemanová, P R Cooper, N J Nowak,[...]. Cell 1998
774
4

A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
K Savitsky, A Bar-Shira, S Gilad, G Rotman, Y Ziv, L Vanagaite, D A Tagle, S Smith, T Uziel, S Sfez,[...]. Science 1995
4

The DNA damage response: making it safe to play with knives.
Alberto Ciccia, Stephen J Elledge. Mol Cell 2010
4

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
Regina Waltes, Reinhard Kalb, Magtouf Gatei, Amanda W Kijas, Markus Stumm, Alexandra Sobeck, Britta Wieland, Raymonda Varon, Yaniv Lerenthal, Martin F Lavin,[...]. Am J Hum Genet 2009
159
4

Somatic mosaicism and neurodevelopmental disease.
Alissa M D'Gama, Christopher A Walsh. Nat Neurosci 2018
89
4

OMIM.org: leveraging knowledge across phenotype-gene relationships.
Joanna S Amberger, Carol A Bocchini, Alan F Scott, Ada Hamosh. Nucleic Acids Res 2019
170
4

Comparative Approaches to Genetic Discrimination: Chasing Shadows?
Yann Joly, Ida Ngueng Feze, Lingqiao Song, Bartha M Knoppers. Trends Genet 2017
40
5

Genetic diagnosis of Mendelian disorders via RNA sequencing.
Laura S Kremer, Daniel M Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile,[...]. Nat Commun 2017
204
4

Signatures of mutational processes in human cancer.
Ludmil B Alexandrov, Serena Nik-Zainal, David C Wedge, Samuel A J R Aparicio, Sam Behjati, Andrew V Biankin, Graham R Bignell, Niccolò Bolli, Ake Borg, Anne-Lise Børresen-Dale,[...]. Nature 2013
4

International network of cancer genome projects.
Thomas J Hudson, Warwick Anderson, Axel Artez, Anna D Barker, Cindy Bell, Rosa R Bernabé, M K Bhan, Fabien Calvo, Iiro Eerola, Daniela S Gerhard,[...]. Nature 2010
4


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.