A citation-based method for searching scientific literature

Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, Jun Yoshimura, Miho Kawabe Matsukawa, Asao Fujiyama, Yasuko Toyoshima, Akiyoshi Kakita, Hitoshi Takahashi, Yutaka Suzuki, Sumio Sugano, Wei Qu, Kazuki Ichikawa, Hideaki Yurino, Koichiro Higasa, Shota Shibata, Aki Mitsue, Masaki Tanaka, Yaeko Ichikawa, Yuji Takahashi, Hidetoshi Date, Takashi Matsukawa, Junko Kanda, Fumiko Kusunoki Nakamoto, Mana Higashihara, Koji Abe, Ryoko Koike, Mutsuo Sasagawa, Yasuko Kuroha, Naoya Hasegawa, Norio Kanesawa, Takayuki Kondo, Takefumi Hitomi, Masayoshi Tada, Hiroki Takano, Yutaka Saito, Kazuhiro Sanpei, Osamu Onodera, Masatoyo Nishizawa, Masayuki Nakamura, Takeshi Yasuda, Yoshio Sakiyama, Mieko Otsuka, Akira Ueki, Ken-Ichi Kaida, Jun Shimizu, Ritsuko Hanajima, Toshihiro Hayashi, Yasuo Terao, Satomi Inomata-Terada, Masashi Hamada, Yuichiro Shirota, Akatsuki Kubota, Yoshikazu Ugawa, Kishin Koh, Yoshihisa Takiyama, Natsumi Ohsawa-Yoshida, Shoichi Ishiura, Ryo Yamasaki, Akira Tamaoka, Hiroshi Akiyama, Taisuke Otsuki, Akira Sano, Akio Ikeda, Jun Goto, Shinichi Morishita, Shoji Tsuji. Nat Genet 2018
Times Cited: 133







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



Times Cited
  Times     Co-cited
Similarity


Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Rahel T Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder,[...]. Nat Commun 2019
52
76

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa,[...]. Nat Commun 2019
42
88

TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.
Patra Yeetong, Monnat Pongpanich, Chalurmpon Srichomthong, Adjima Assawapitaksakul, Varote Shotelersuk, Nithiphut Tantirukdham, Chaipat Chunharas, Kanya Suphapeetiporn, Vorasuk Shotelersuk. Brain 2019
42
83

Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1.
Zhidong Cen, Zhengwen Jiang, You Chen, Xiaosheng Zheng, Fei Xie, Xiaodong Yang, Xingjiao Lu, Zhiyuan Ouyang, Hongwei Wu, Si Chen,[...]. Brain 2018
42
71

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
Sheng Zeng, Mei-Yun Zhang, Xue-Jing Wang, Zheng-Mao Hu, Jin-Chen Li, Nan Li, Jun-Ling Wang, Fan Liang, Qi Yang, Qian Liu,[...]. J Med Genet 2019
51
54

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke,[...]. Nat Genet 2019
160
25

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
Mariely DeJesus-Hernandez, Ian R Mackenzie, Bradley F Boeve, Adam L Boxer, Matt Baker, Nicola J Rutherford, Alexandra M Nicholson, NiCole A Finch, Heather Flynn, Jennifer Adamson,[...]. Neuron 2011
24

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Jun Sone, Satomi Mitsuhashi, Atsushi Fujita, Takeshi Mizuguchi, Kohei Hamanaka, Keiko Mori, Haruki Koike, Akihiro Hashiguchi, Hiroshi Takashima, Hiroshi Sugiyama,[...]. Nat Genet 2019
154
24

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
Nozomu Sato, Takeshi Amino, Kazuhiro Kobayashi, Shuichi Asakawa, Taro Ishiguro, Taiji Tsunemi, Makoto Takahashi, Tohru Matsuura, Kevin M Flanigan, Sawa Iwasaki,[...]. Am J Hum Genet 2009
181
22

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Ana I Seixas, Joana R Loureiro, Cristina Costa, Andrés Ordóñez-Ugalde, Hugo Marcelino, Cláudia L Oliveira, José L Loureiro, Ashutosh Dhingra, Eva Brandão, Vitor T Cruz,[...]. Am J Hum Genet 2017
60
36

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, Yuta Suzuki, Wei Qu, Koichiro Doi, M Asem Almansour, Junko Kanda Kikuchi, Makiko Taira, Jun Mitsui,[...]. Nat Genet 2019
120
19

Detection of long repeat expansions from PCR-free whole-genome sequence data.
Egor Dolzhenko, Joke J F A van Vugt, Richard J Shaw, Mitchell A Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S Ajay, Vani Rajan, Bryan R Lajoie, Nathan H Johnson,[...]. Genome Res 2017
147
18

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
Yun Tian, Jun-Ling Wang, Wen Huang, Sheng Zeng, Bin Jiao, Zhen Liu, Zhao Chen, Yujing Li, Ying Wang, Hao-Xuan Min,[...]. Am J Hum Genet 2019
110
17


Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
T Matsuura, T Yamagata, D L Burgess, A Rasmussen, R P Grewal, K Watase, M Khajavi, A E McCall, C F Davis, L Zu,[...]. Nat Genet 2000
357
16

Cortical tremor: a variant of cortical reflex myoclonus.
A Ikeda, R Kakigi, N Funai, R Neshige, Y Kuroda, H Shibasaki. Neurology 1990
158
15

Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases.
Takeshi Mizuguchi, Tomoko Toyota, Hiroaki Adachi, Noriko Miyake, Naomichi Matsumoto, Satoko Miyatake. J Hum Genet 2019
23
65

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Alan E Renton, Elisa Majounie, Adrian Waite, Javier Simón-Sánchez, Sara Rollinson, J Raphael Gibbs, Jennifer C Schymick, Hannu Laaksovirta, John C van Swieten, Liisa Myllykangas,[...]. Neuron 2011
15

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
V Campuzano, L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli,[...]. Science 1996
15

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
H T Orr, M Y Chung, S Banfi, T J Kwiatkowski, A Servadio, A L Beaudet, A E McCall, L A Duvick, L P Ranum, H Y Zoghbi. Nat Genet 1993
14

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Haloom Rafehi, David J Szmulewicz, Mark F Bennett, Nara L M Sobreira, Kate Pope, Katherine R Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A Eberle,[...]. Am J Hum Genet 2019
72
19

Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2.
R Guerrini, P Bonanni, A Patrignani, P Brown, L Parmeggiani, P Grosse, P Brovedani, F Moro, P Aridon, R Carrozzo,[...]. Brain 2001
112
13

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
Hatasu Kobayashi, Koji Abe, Tohru Matsuura, Yoshio Ikeda, Toshiaki Hitomi, Yuji Akechi, Toshiyuki Habu, Wanyang Liu, Hiroko Okuda, Akio Koizumi. Am J Hum Genet 2011
175
13

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
A J Verkerk, M Pieretti, J S Sutcliffe, Y H Fu, D P Kuhl, A Pizzuti, O Reiner, S Richards, M F Victoria, F P Zhang. Cell 1991
13

TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy.
X X Lei, Q Liu, Q Lu, Y Huang, X Q Zhou, H Y Sun, L W Wu, L Y Cui, X Zhang. Eur J Neurol 2019
19
68

Parkinson's disease associated with pure ATXN10 repeat expansion.
Birgitt Schüle, Karen N McFarland, Kelsey Lee, Yu-Chih Tsai, Khanh-Dung Nguyen, Chao Sun, Mei Liu, Christie Byrne, Ramesh Gopi, Neng Huang,[...]. NPJ Parkinsons Dis 2017
35
34


Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
E J Kremer, M Pritchard, M Lynch, S Yu, K Holman, E Baker, S T Warren, D Schlessinger, G R Sutherland, R I Richards. Science 1991
814
12

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.
C L Liquori, K Ricker, M L Moseley, J F Jacobsen, W Kress, S L Naylor, J W Day, L P Ranum. Science 2001
836
12

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.
Patra Yeetong, Surasawadee Ausavarat, Roongroj Bhidayasiri, Krisna Piravej, Nath Pasutharnchat, Tayard Desudchit, Chaipat Chunharas, Jakrin Loplumlert, Chusak Limotai, Kanya Suphapeetiporn,[...]. Eur J Hum Genet 2013
42
26

Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p.
C Depienne, E Magnin, D Bouteiller, G Stevanin, C Saint-Martin, M Vidailhet, E Apartis, E Hirsch, E LeGuern, P Labauge,[...]. Neurology 2010
60
18

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.
Haibao Tang, Ewen F Kirkness, Christoph Lippert, William H Biggs, Martin Fabani, Ernesto Guzman, Smriti Ramakrishnan, Victor Lavrenko, Boyko Kakaradov, Claire Hou,[...]. Am J Hum Genet 2017
59
18

SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure.
Karen N McFarland, Jilin Liu, Ivette Landrian, Ronald Godiska, Savita Shanker, Fahong Yu, William G Farmerie, Tetsuo Ashizawa. PLoS One 2015
34
32

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.
Y Kawaguchi, T Okamoto, M Taniwaki, M Aizawa, M Inoue, S Katayama, H Kawakami, S Nakamura, M Nishimura, I Akiguchi. Nat Genet 1994
11

Non-ATG-initiated translation directed by microsatellite expansions.
Tao Zu, Brian Gibbens, Noelle S Doty, Mário Gomes-Pereira, Aline Huguet, Matthew D Stone, Jamie Margolis, Mark Peterson, Todd W Markowski, Melissa A C Ingram,[...]. Proc Natl Acad Sci U S A 2011
573
11

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Amy J LaCroix, Deborah Stabley, Rebecca Sahraoui, Margaret P Adam, Michele Mehaffey, Kelly Kernan, Candace T Myers, Carrie Fagerstrom, George Anadiotis, Yassmine M Akkari,[...]. Am J Hum Genet 2019
43
25

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
A R La Spada, E M Wilson, D B Lubahn, A E Harding, K H Fischbeck. Nature 1991
11

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
10

Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features.
Anne-Fleur van Rootselaar, Ivo N van Schaik, Arn M J M van den Maagdenberg, Johannes H T M Koelman, Petra M C Callenbach, Marina A J Tijssen. Mov Disord 2005
67
14

(1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy.
Pasquale Striano, Ferdinando Caranci, Raffaella Di Benedetto, Fabio Tortora, Federico Zara, Salvatore Striano. Epilepsia 2009
39
25

Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.
M Mikami, T Yasuda, A Terao, M Nakamura, S Ueno, H Tanabe, T Tanaka, T Onuma, Y Goto, S Kaneko,[...]. Am J Hum Genet 1999
113
10

STRetch: detecting and discovering pathogenic short tandem repeat expansions.
Harriet Dashnow, Monkol Lek, Belinda Phipson, Andreas Halman, Simon Sadedin, Andrew Lonsdale, Mark Davis, Phillipa Lamont, Joshua S Clayton, Nigel G Laing,[...]. Genome Biol 2018
56
17

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
10

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.
J D Brook, M E McCurrach, H G Harley, A J Buckler, D Church, H Aburatani, K Hunter, V P Stanton, J P Thirion, T Hudson. Cell 1992
10

Repeat expansion diseases.
Henry Paulson. Handb Clin Neurol 2018
134
10

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
S M Pulst, A Nechiporuk, T Nechiporuk, S Gispert, X N Chen, I Lopes-Cendes, S Pearlman, S Starkman, G Orozco-Diaz, A Lunkes,[...]. Nat Genet 1996
892
10

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease.
Mark T W Ebbert, Stefan L Farrugia, Jonathon P Sens, Karen Jansen-West, Tania F Gendron, Mercedes Prudencio, Ian J McLaughlin, Brett Bowman, Matthew Seetin, Mariely DeJesus-Hernandez,[...]. Mol Neurodegener 2018
51
19

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy.
M D Lalioti, H S Scott, C Buresi, C Rossier, A Bottani, M A Morris, A Malafosse, S E Antonarakis. Nature 1997
244
10

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).
R Koide, T Ikeuchi, O Onodera, H Tanaka, S Igarashi, K Endo, H Takahashi, R Kondo, A Ishikawa, T Hayashi. Nat Genet 1994
984
10

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
M D Koob, M L Moseley, L J Schut, K A Benzow, T D Bird, J W Day, L P Ranum. Nat Genet 1999
454
10


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.