A citation-based method for searching scientific literature

Atsuko Nishikawa, Satomi Mitsuhashi, Naomasa Miyata, Ichizo Nishino. J Med Genet 2017
Times Cited: 29







List of co-cited articles
82 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
37

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
Roula Ghaoui, Sandra T Cooper, Monkol Lek, Kristi Jones, Alastair Corbett, Stephen W Reddel, Merrilee Needham, Christina Liang, Leigh B Waddell, Garth Nicholson,[...]. JAMA Neurol 2015
102
20

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.
Xia Tian, Wen-Chen Liang, Yanming Feng, Jing Wang, Victor Wei Zhang, Chih-Hung Chou, Hsien-Da Huang, Ching Wan Lam, Ya-Yun Hsu, Thy-Sheng Lin,[...]. Neurol Genet 2015
33
17

Targeted next-generation sequencing assay for detection of mutations in primary myopathies.
Anni Evilä, Meharji Arumilli, Bjarne Udd, Peter Hackman. Neuromuscul Disord 2016
61
17

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
Marius Kuhn, Dieter Gläser, Pushpa Raj Joshi, Stephan Zierz, Stephan Wenninger, Benedikt Schoser, Marcus Deschauer. J Neurol 2016
31
17

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
261
17

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.
Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella, Chiara Fiorillo, Francesca Magri, Marina Fanin, Lucia Ruggiero, Giulia Ricci, Guja Astrea, Luigia Passamano,[...]. Neurology 2016
58
17

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.
Eugenio Mercuri, Anne Lampe, Joanna Allsop, Ravi Knight, Marika Pane, Maria Kinali, Carsten Bonnemann, Kevin Flanigan, Ilaria Lapini, Kate Bushby,[...]. Neuromuscul Disord 2005
107
13

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
Jong Hee Chae, Valeria Vasta, Anna Cho, Byung Chan Lim, Qing Zhang, So Hee Eun, Si Houn Hahn. J Med Genet 2015
63
13

Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
M-W Seong, A Cho, H W Park, S H Seo, B C Lim, D Seol, S I Cho, S S Park, J H Chae. Clin Genet 2016
20
20

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
Marco Savarese, Giuseppina Di Fruscio, Margherita Mutarelli, Annalaura Torella, Francesca Magri, Filippo Maria Santorelli, Giacomo Pietro Comi, Claudio Bruno, Vincenzo Nigro. Acta Neuropathol Commun 2014
50
13

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Andrew G Engel, Xin-Ming Shen, Duygu Selcen, Steven M Sine. Lancet Neurol 2015
226
10

Early onset collagen VI myopathies: Genetic and clinical correlations.
Laura Briñas, Pascale Richard, Susana Quijano-Roy, Corine Gartioux, Céline Ledeuil, Emmanuelle Lacène, Samira Makri, Ana Ferreiro, Svetlana Maugenre, Haluk Topaloglu,[...]. Ann Neurol 2010
74
10

Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
Wen-Chen Liang, Yukiko K Hayashi, Megumu Ogawa, Chien-Hua Wang, Wan-Ting Huang, Ichizo Nishino, Yuh-Jyh Jong. Neuromuscul Disord 2013
14
21

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
194
10

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
Jaya Punetha, Akanchha Kesari, Prech Uapinyoying, Mamta Giri, Nigel F Clarke, Leigh B Waddell, Kathryn N North, Roula Ghaoui, Gina L O'Grady, Emily C Oates,[...]. J Neuromuscul Dis 2016
12
25

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.
Arunkanth Ankala, Cristina da Silva, Francesca Gualandi, Alessandra Ferlini, Lora J H Bean, Christin Collins, Alice K Tanner, Madhuri R Hegde. Ann Neurol 2015
101
10

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.
Dorota Monies, Hindi N Alhindi, Mohamed A Almuhaizea, Mohamed Abouelhoda, Anas M Alazami, Ewa Goljan, Banan Alyounes, Dyala Jaroudi, Abdulelah AlIssa, Khalid Alabdulrahman,[...]. Hum Genomics 2016
20
15

Increasing Role of Titin Mutations in Neuromuscular Disorders.
Marco Savarese, Jaakko Sarparanta, Anna Vihola, Bjarne Udd, Peter Hackman. J Neuromuscul Dis 2016
60
10


The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Hemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D Jones, Satomi Mitsuhashi, Basil T Darras, Anthony A Amato, Hart Gw Lidov,[...]. J Hum Genet 2017
37
10


Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.
Fiona L M Norwood, Chris Harling, Patrick F Chinnery, Michelle Eagle, Kate Bushby, Volker Straub. Brain 2009
275
10

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
10

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, Alice Tanner, Arunkanth Ankala, Thomas Schneider, Cristina da Silva, Randall Beadling, John J Alexander, Syed Hussain Askree,[...]. Ann Clin Transl Neurol 2018
51
10

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
K Stehlíková, D Skálová, J Zídková, J Haberlová, S Voháňka, R Mazanec, L Mrázová, P Vondráček, H Ošlejšková, J Zámečník,[...]. Clin Genet 2017
17
17

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond,[...]. Genet Med 2013
6

MutationTaster2: mutation prediction for the deep-sequencing age.
Jana Marie Schwarz, David N Cooper, Markus Schuelke, Dominik Seelow. Nat Methods 2014
6

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
6

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan.
M Okada, G Kawahara, S Noguchi, K Sugie, K Murayama, I Nonaka, Y K Hayashi, I Nishino. Neurology 2007
68
6

Inflammatory changes in infantile-onset LMNA-associated myopathy.
Hirofumi Komaki, Yukiko K Hayashi, Rie Tsuburaya, Kazuma Sugie, Mitsuhiro Kato, Toshiro Nagai, George Imataka, Shuhei Suzuki, Shinji Saitoh, Naoko Asahina,[...]. Neuromuscul Disord 2011
43
6

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
Russell J Butterfield, A Reghan Foley, Jahannaz Dastgir, Stephanie Asman, Diane M Dunn, Yaqun Zou, Ying Hu, Sandra Donkervoort, Kevin M Flanigan, Kathryn J Swoboda,[...]. Hum Mutat 2013
52
6

De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Susana Quijano-Roy, Blaise Mbieleu, Carsten G Bönnemann, Pierre-Yves Jeannet, Jaume Colomer, Nigel F Clarke, Jean-Marie Cuisset, Helen Roper, Linda De Meirleir, Adele D'Amico,[...]. Ann Neurol 2008
176
6

Diagnosis and etiology of congenital muscular dystrophy.
R A Peat, J M Smith, A G Compton, N L Baker, R A Pace, D J Burkin, S J Kaufman, S R Lamandé, K N North. Neurology 2008
55
6

Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies.
Francesco Muntoni, Silvia Torelli, Dominic J Wells, Susan C Brown. Curr Opin Neurol 2011
74
6

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
Lan Qin, Jing Wang, Xia Tian, Hui Yu, Cavatina Truong, John J Mitchell, Klaas J Wierenga, William J Craigen, Victor Wei Zhang, Lee-Jun C Wong. J Mol Diagn 2016
44
6

Coming of age: ten years of next-generation sequencing technologies.
Sara Goodwin, John D McPherson, W Richard McCombie. Nat Rev Genet 2016
6

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Thalia Antoniadi, Chris Buxton, Gemma Dennis, Natalie Forrester, Debbie Smith, Peter Lunt, Sarah Burton-Jones. BMC Med Genet 2015
38
6

Diagnostic clinical genome and exome sequencing.
Leslie G Biesecker, Robert C Green. N Engl J Med 2014
340
6

Genome sequencing identifies major causes of severe intellectual disability.
Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck,[...]. Nature 2014
619
6

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
6

Next generation sequencing for molecular diagnosis of neuromuscular diseases.
Nasim Vasli, Johann Böhm, Stéphanie Le Gras, Jean Muller, Cécile Pizot, Bernard Jost, Andoni Echaniz-Laguna, Vincent Laugel, Christine Tranchant, Rafaelle Bernard,[...]. Acta Neuropathol 2012
62
6

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
Sébastien Lévesque, Christiane Auray-Blais, Elaine Gravel, Michel Boutin, Laura Dempsey-Nunez, Pierre-Etienne Jacques, Sébastien Chenier, Sandrine Larue, Marie-France Rioux, Walla Al-Hertani,[...]. Orphanet J Rare Dis 2016
26
7






A rising titan: TTN review and mutation update.
Claire Chauveau, John Rowell, Ana Ferreiro. Hum Mutat 2014
113
6

A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
Yi Dai, Xiaoming Wei, Yanhuan Zhao, Haitao Ren, Zhangzhang Lan, Yun Yang, Lin Chen, Liying Cui. Neuromuscul Disord 2015
21
9


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.