A citation-based method for searching scientific literature

Mark F Bennett, Karen L Oliver, Brigid M Regan, Susannah T Bellows, Amy L Schneider, Haloom Rafehi, Neblina Sikta, Douglas E Crompton, Matthew Coleman, Michael S Hildebrand, Mark A Corbett, Thessa Kroes, Jozef Gecz, Ingrid E Scheffer, Samuel F Berkovic, Melanie Bahlo. Eur J Hum Genet 2020
Times Cited: 6







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



Times Cited
  Times     Co-cited
Similarity


Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, Jun Yoshimura, Miho Kawabe Matsukawa, Asao Fujiyama, Yasuko Toyoshima, Akiyoshi Kakita, Hitoshi Takahashi, Yutaka Suzuki,[...]. Nat Genet 2018
130
83

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
41
83

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
51
66

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
41
66

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
147
66

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
41
66

Intronic (TTTGA)n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy.
Zhidong Cen, You Chen, Dehao Yang, Qingchen Zhu, Si Chen, Xinhui Chen, Bo Wang, Fei Xie, Zhiyuan Ouyang, Zhengwen Jiang,[...]. Mov Disord 2019
8
66

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
139
66

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
50

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
50

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
50

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
100
50

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
562
50

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
50

Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.
Marc Corral-Juan, Carmen Serrano-Munuera, Alberto Rábano, Daniel Cota-González, Anna Segarra-Roca, Lourdes Ispierto, Antonio Tomás Cano-Orgaz, Astrid D Adarmes, Carlota Méndez-Del-Barrio, Silvia Jesús,[...]. Brain 2018
18
50

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
116
50

Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing.
Koichiro Doi, Taku Monjo, Pham H Hoang, Jun Yoshimura, Hideaki Yurino, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Yaeko Ichikawa, Jun Goto,[...]. Bioinformatics 2014
40
50

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
146
50

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
56
50

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
40
50

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
67
50

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.
Rick M Tankard, Mark F Bennett, Peter Degorski, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo. Am J Hum Genet 2018
42
50

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution.
Joana R Loureiro, Cláudia L Oliveira, Carolina Mota, Ana F Castro, Cristina Costa, José L Loureiro, Paula Coutinho, Sandra Martins, Jorge Sequeiros, Isabel Silveira. Hum Mutat 2019
8
50

Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.
Jun Sone, Keiko Mori, Tomonori Inagaki, Ryu Katsumata, Shinnosuke Takagi, Satoshi Yokoi, Kunihiko Araki, Toshiyasu Kato, Tomohiko Nakamura, Haruki Koike,[...]. Brain 2016
139
33

Cortical tremor: a variant of cortical reflex myoclonus.
A Ikeda, R Kakigi, N Funai, R Neshige, Y Kuroda, H Shibasaki. Neurology 1990
158
33

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
48
33

Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene.
Tatsuaki Kurosaki, Tohru Matsuura, Kinji Ohno, Shintaroh Ueda. Mol Biol Evol 2009
9
33

Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24.
N M Plaster, E Uyama, M Uchino, T Ikeda, K M Flanigan, I Kondo, L J Ptácek. Neurology 1999
86
33

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.
Carmen Serrano-Munuera, Marc Corral-Juan, Giovanni Stevanin, Hector San Nicolás, Carles Roig, Jordi Corral, Berta Campos, Laura de Jorge, Carlos Morcillo-Suárez, Arcadi Navarro,[...]. JAMA Neurol 2013
25
33

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J Lamont, Stuart Mossman,[...]. Brain 2020
59
33

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat.
A Mankodi, E Logigian, L Callahan, C McClain, R White, D Henderson, M Krym, C A Thornton. Science 2000
502
33

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
33

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
33

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
33

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
33

Repeat instability: mechanisms of dynamic mutations.
Christopher E Pearson, Kerrie Nichol Edamura, John D Cleary. Nat Rev Genet 2005
617
33

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
111
33

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads.
Satomi Mitsuhashi, Martin C Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto. Genome Biol 2019
41
33

RNA phase transitions in repeat expansion disorders.
Ankur Jain, Ronald D Vale. Nature 2017
347
33

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
33

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
F R Goodman, C Bacchelli, A F Brady, L A Brueton, J P Fryns, D P Mortlock, J W Innis, L B Holmes, A E Donnenfeld, M Feingold,[...]. Am J Hum Genet 2000
171
33

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
665
33

An expanded CAG repeat sequence in spinocerebellar ataxia type 7.
K Lindblad, M L Savontaus, G Stevanin, M Holmberg, K Digre, C Zander, H Ehrsson, G David, A Benomar, E Nikoskelainen,[...]. Genome Res 1996
91
33

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Petter Strømme, Marie E Mangelsdorf, Marie A Shaw, Karen M Lower, Suzanne M E Lewis, Helene Bruyere, Viggo Lütcherath, Agi K Gedeon, Robyn H Wallace, Ingrid E Scheffer,[...]. Nat Genet 2002
328
33

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.
B Brais, J P Bouchard, Y G Xie, D L Rochefort, N Chrétien, F M Tomé, R G Lafrenière, J M Rommens, E Uyama, O Nohira,[...]. Nat Genet 1998
566
33

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
243
33


Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.
S Mundlos, F Otto, C Mundlos, J B Mulliken, A S Aylsworth, S Albright, D Lindhout, W G Cole, W Henn, J H Knoll,[...]. Cell 1997
33

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
Jeanne Amiel, Béatrice Laudier, Tania Attié-Bitach, Ha Trang, Loïc de Pontual, Blanca Gener, Delphine Trochet, Heather Etchevers, Pierre Ray, Michel Simonneau,[...]. Nat Genet 2003
568
33

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
33


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.