A citation-based method for searching scientific literature

Claudia Ciaccio, Chiara Pantaleoni, Sara Bulgheroni, Francesca Sciacca, Stefano D'Arrigo. Cerebellum 2020
Times Cited: 1







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



Times Cited
  Times     Co-cited
Similarity


CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
Julie Mollet, Agnès Delahodde, Valérie Serre, Dominique Chretien, Dimitri Schlemmer, Anne Lombes, Nathalie Boddaert, Isabelle Desguerre, Pascale de Lonlay, Hélène Ogier de Baulny,[...]. Am J Hum Genet 2008
189
100

State of the Field in Multi-Omics Research: From Computational Needs to Data Mining and Sharing.
Michal Krassowski, Vivek Das, Sangram K Sahu, Biswapriya B Misra. Front Genet 2020
6
100

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
Christel Depienne, Estelle Fedirko, Sylvie Forlani, Cécile Cazeneuve, Pascale Ribaï, Imed Feki, Chantal Tallaksen, Karine Nguyen, Bruno Stankoff, Merle Ruberg,[...]. J Med Genet 2007
84
100

Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.
Craig D Platt, Fatima Zaman, Wayne Bainter, Kelsey Stafstrom, Abuarahman Almutairi, Margot Reigle, Sabrina Weeks, Raif S Geha, Janet Chou. J Allergy Clin Immunol 2021
6
100

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.
Claire Guissart, Xiuju Li, Bruno Leheup, Nathalie Drouot, Bettina Montaut-Verient, Emmanuel Raffo, Philippe Jonveaux, Anne-Françoise Roux, Mireille Claustres, Larry Fliegel,[...]. Hum Mol Genet 2015
26
100

One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.
Karien Esterhuizen, J Zander Lindeque, Shayne Mason, Francois H van der Westhuizen, Richard J Rodenburg, Paul de Laat, Jan A M Smeitink, Mirian C H Janssen, Roan Louw. Metabolomics 2021
2
100

Progress on the HUPO Draft Human Proteome: 2017 Metrics of the Human Proteome Project.
Gilbert S Omenn, Lydie Lane, Emma K Lundberg, Christopher M Overall, Eric W Deutsch. J Proteome Res 2017
40
100

Lipids in the Physiopathology of Hereditary Spastic Paraplegias.
Frédéric Darios, Fanny Mochel, Giovanni Stevanin. Front Neurosci 2020
12
100


Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
Andres Moreno-De-Luca, Sandra L Helmers, Hui Mao, Thomas G Burns, Amanda M A Melton, Karen R Schmidt, Paul M Fernhoff, David H Ledbetter, Christa L Martin. J Med Genet 2011
103
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
9
100


Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
G David, N Abbas, G Stevanin, A Dürr, G Yvert, G Cancel, C Weber, G Imbert, F Saudou, E Antoniou,[...]. Nat Genet 1997
599
100

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Christelle M Durand, Laura Dhers, Christelle Tesson, Alessandra Tessa, Laetitia Fouillen, Stéphanie Jacqueré, Laure Raymond, Isabelle Coupry, Giovanni Benard, Frédéric Darios,[...]. Hum Mutat 2018
10
100

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.
R J Hagerman, M Leehey, W Heinrichs, F Tassone, R Wilson, J Hills, J Grigsby, B Gage, P J Hagerman. Neurology 2001
643
100


A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Kathie J Ngo, Jessica E Rexach, Hane Lee, Lauren E Petty, Susan Perlman, Juliana M Valera, Joshua L Deignan, Yuanming Mao, Mamdouh Aker, Jennifer E Posey,[...]. Hum Mutat 2020
14
100


Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders.
P Devanna, X S Chen, J Ho, D Gajewski, S D Smith, A Gialluisi, C Francks, S E Fisher, D F Newbury, S C Vernes. Mol Psychiatry 2018
28
100

Nanopore sequencing and assembly of a human genome with ultra-long reads.
Miten Jain, Sergey Koren, Karen H Miga, Josh Quick, Arthur C Rand, Thomas A Sasani, John R Tyson, Andrew D Beggs, Alexander T Dilthey, Ian T Fiddes,[...]. Nat Biotechnol 2018
596
100

Sharing and community curation of mass spectrometry data with Global Natural Products Social Molecular Networking.
Mingxun Wang, Jeremy J Carver, Vanessa V Phelan, Laura M Sanchez, Neha Garg, Yao Peng, Don Duy Nguyen, Jeramie Watrous, Clifford A Kapono, Tal Luzzatto-Knaan,[...]. Nat Biotechnol 2016
100


Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
A Escayg, M De Waard, D D Lee, D Bichet, P Wolf, T Mayer, J Johnston, R Baloh, T Sander, M H Meisler. Am J Hum Genet 2000
267
100

A scoping review and proposed workflow for multi-omic rare disease research.
Katie Kerr, Helen McAneney, Laura J Smyth, Caitlin Bailie, Shane McKee, Amy Jayne McKnight. Orphanet J Rare Dis 2020
9
100

Multiomics tools for the diagnosis and treatment of rare neurological disease.
L M Crowther, M Poms, Barbara Plecko. J Inherit Metab Dis 2018
12
100

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.
José Marcos Moreno-Cabrera, Jesús Del Valle, Elisabeth Castellanos, Lidia Feliubadaló, Marta Pineda, Joan Brunet, Eduard Serra, Gabriel Capellà, Conxi Lázaro, Bernat Gel. Eur J Hum Genet 2020
13
100

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
Uirá S Melo, Lucia I Macedo-Souza, Thalita Figueiredo, Alysson R Muotri, Joseph G Gleeson, Gabriela Coux, Pablo Armas, Nora B Calcaterra, João P Kitajima, Simone Amorim,[...]. Hum Mol Genet 2015
22
100

Diagnosis and management of early- and late-onset cerebellar ataxia.
E Brusse, J A Maat-Kievit, J C van Swieten. Clin Genet 2007
67
100

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
59
100

Accurate detection of mosaic variants in sequencing data without matched controls.
Yanmei Dou, Minseok Kwon, Rachel E Rodin, Isidro Cortés-Ciriano, Ryan Doan, Lovelace J Luquette, Alon Galor, Craig Bohrson, Christopher A Walsh, Peter J Park. Nat Biotechnol 2020
10
100


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
6
100

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
Brent L Fogel, Hane Lee, Joshua L Deignan, Samuel P Strom, Sibel Kantarci, Xizhe Wang, Fabiola Quintero-Rivera, Eric Vilain, Wayne W Grody, Susan Perlman,[...]. JAMA Neurol 2014
152
100

Rare Genetic Diseases: Nature's Experiments on Human Development.
Chelsea E Lee, Kaela S Singleton, Melissa Wallin, Victor Faundez. iScience 2020
9
100

Video game-based coordinative training improves ataxia in children with degenerative ataxia.
Winfried Ilg, Cornelia Schatton, Julia Schicks, Martin A Giese, Ludger Schöls, Matthis Synofzik. Neurology 2012
80
100


Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
Joshua Hersheson, Niccolo E Mencacci, Mary Davis, Nicola MacDonald, Daniah Trabzuni, Mina Ryten, Alan Pittman, Reema Paudel, Eleanna Kara, Katherine Fawcett,[...]. Ann Neurol 2013
98
100

Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.
Patrick Deelen, Sipko van Dam, Johanna C Herkert, Juha M Karjalainen, Harm Brugge, Kristin M Abbott, Cleo C van Diemen, Paul A van der Zwaag, Erica H Gerkes, Evelien Zonneveld-Huijssoon,[...]. Nat Commun 2019
31
100

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Kym M Boycott, Philippe M Campeau, Heather E Howley, Paul Pavlidis, Sanja Rogic, Christine Oriel, Jason N Berman, Robert M Hamilton, Geoffrey G Hicks, Howard D Lipshitz,[...]. Am J Hum Genet 2020
10
100

A deep proteome and transcriptome abundance atlas of 29 healthy human tissues.
Dongxue Wang, Basak Eraslan, Thomas Wieland, Björn Hallström, Thomas Hopf, Daniel Paul Zolg, Jana Zecha, Anna Asplund, Li-Hua Li, Chen Meng,[...]. Mol Syst Biol 2019
145
100

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
Elodie Martin, Rebecca Schüle, Katrien Smets, Agnès Rastetter, Amir Boukhris, José L Loureiro, Michael A Gonzalez, Emeline Mundwiller, Tine Deconinck, Marc Wessner,[...]. Am J Hum Genet 2013
108
100

Personalised analytics for rare disease diagnostics.
Denise Anderson, Gareth Baynam, Jenefer M Blackwell, Timo Lassmann. Nat Commun 2019
4
100

Spectrin mutations cause spinocerebellar ataxia type 5.
Yoshio Ikeda, Katherine A Dick, Marcy R Weatherspoon, Dan Gincel, Karen R Armbrust, Joline C Dalton, Giovanni Stevanin, Alexandra Dürr, Christine Zühlke, Katrin Bürk,[...]. Nat Genet 2006
242
100

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Velina Guergueltcheva, Dimitar N Azmanov, Dora Angelicheva, Katherine R Smith, Teodora Chamova, Laura Florez, Michael Bynevelt, Thai Nguyen, Sylvia Cherninkova, Veneta Bojinova,[...]. Am J Hum Genet 2012
56
100

Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy.
Francesco Mazzarotto, Iacopo Olivotto, Roddy Walsh. Cardiovasc Drugs Ther 2020
11
100

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Marie Coutelier, Cyril Goizet, Alexandra Durr, Florence Habarou, Sara Morais, Alexandre Dionne-Laporte, Feifei Tao, Juliette Konop, Marion Stoll, Perrine Charles,[...]. Brain 2015
47
100

Repeat expansion diseases.
Henry Paulson. Handb Clin Neurol 2018
97
100

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Luis Ruano, Claudia Melo, M Carolina Silva, Paula Coutinho. Neuroepidemiology 2014
243
100

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.
Emma Graham, Jessica Lee, Magda Price, Maja Tarailo-Graovac, Allison Matthews, Udo Engelke, Jeffrey Tang, Leo A J Kluijtmans, Ron A Wevers, Wyeth W Wasserman,[...]. J Inherit Metab Dis 2018
17
100

Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.
Lúcia Inês Macedo-Souza, Fernando Kok, Silvana Santos, Luciana Licinio, Karina Lezirovitz, Natale Cavaçana, Clarissa Bueno, Simone Amorim, André Pessoa, Zodja Graciani,[...]. Ann Hum Genet 2009
21
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.