A citation-based method for searching scientific literature

Amy J LaCroix, Deborah Stabley, Rebecca Sahraoui, Margaret P Adam, Michele Mehaffey, Kelly Kernan, Candace T Myers, Carrie Fagerstrom, George Anadiotis, Yassmine M Akkari, Katherine M Robbins, Karen W Gripp, Wagner A R Baratela, Michael B Bober, Angela L Duker, Dan Doherty, Jennifer C Dempsey, Daniel G Miller, Martin Kircher, Michael J Bamshad, Deborah A Nickerson, Heather C Mefford, Katia Sol-Church. Am J Hum Genet 2019
Times Cited: 45







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



Times Cited
  Times     Co-cited
Similarity


Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
L Y Brown, S Odent, V David, M Blayau, C Dubourg, C Apacik, M A Delgado, B D Hall, J F Reynolds, A Sommer,[...]. Hum Mol Genet 2001
140
8

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.
Claudia Braida, Rhoda K A Stefanatos, Berit Adam, Navdeep Mahajan, Hubert J M Smeets, Florence Niel, Cyril Goizet, Benoit Arveiler, Michel Koenig, Clotilde Lagier-Tourenne,[...]. Hum Mol Genet 2010
105
8

Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy.
Łukasz J Sznajder, Maurice S Swanson. Int J Mol Sci 2019
37
10

Mendelian Gene Discovery: Fast and Furious with No End in Sight.
Michael J Bamshad, Deborah A Nickerson, Jessica X Chong. Am J Hum Genet 2019
79
8

The impact of short tandem repeat variation on gene expression.
Stephanie Feupe Fotsing, Jonathan Margoliash, Catherine Wang, Shubham Saini, Richard Yanicky, Sharona Shleizer-Burko, Alon Goren, Melissa Gymrek. Nat Genet 2019
45
8

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
49
8

NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION.
Arne De Roeck, Wouter De Coster, Liene Bossaerts, Rita Cacace, Tim De Pooter, Jasper Van Dongen, Svenn D'Hert, Peter De Rijk, Mojca Strazisar, Christine Van Broeckhoven,[...]. Genome Biol 2019
27
14

Identification of the gene FMR2, associated with FRAXE mental retardation.
J Gecz, A K Gedeon, G R Sutherland, J C Mulley. Nat Genet 1996
252
8

Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.
Qi-Ying Sun, Qian Xu, Yun Tian, Zheng-Mao Hu, Li-Xia Qin, Jin-Xia Yang, Wen Huang, Jin Xue, Jin-Chen Li, Sheng Zeng,[...]. Brain 2020
77
8

Long-Read Sequencing Emerging in Medical Genetics.
Tuomo Mantere, Simone Kersten, Alexander Hoischen. Front Genet 2019
138
8

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
41
9

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
43
9

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.
Egor Dolzhenko, Mark F Bennett, Phillip A Richmond, Brett Trost, Sai Chen, Joke J F A van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G Gainullin, Andrew M Gross,[...]. Genome Biol 2020
34
11

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Carlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, David A Parry, Mariska Davids, Fulya Taylan, Prashant Sharma, Coleman T Turgeon, Bernardo Blanco-Sánchez, Bobby G Ng,[...]. Am J Hum Genet 2018
38
10

An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
Y H Fu, A Pizzuti, R G Fenwick, J King, S Rajnarayan, P W Dunne, J Dubel, G A Nasser, T Ashizawa, P de Jong. Science 1992
8

A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.
R L Margolis, E O'Hearn, A Rosenblatt, V Willour, S E Holmes, M L Franz, C Callahan, H S Hwang, J C Troncoso, C A Ross. Ann Neurol 2001
32
12

Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis.
Yanchun Yuan, Zhen Liu, Xuan Hou, Wanzhen Li, Jie Ni, Ling Huang, Yiting Hu, Pan Liu, Xiaorong Hou, Jin Xue,[...]. Neurology 2020
27
14

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?
R Koide, S Kobayashi, T Shimohata, T Ikeuchi, M Maruyama, M Saito, M Yamada, H Takahashi, S Tsuji. Hum Mol Genet 1999
291
8

Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy.
Pu Fang, Yanyan Yu, Sheng Yao, Shuyun Chen, Min Zhu, Yunqing Chen, Keji Zou, Lulu Wang, Huan Wang, Ling Xin,[...]. Ann Clin Transl Neurol 2020
35
11

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations.
Fulya Akçimen, Jay P Ross, Cynthia V Bourassa, Calwing Liao, Daniel Rochefort, Maria Thereza Drumond Gama, Marie-Josée Dicaire, Orlando G Barsottini, Bernard Brais, José Luiz Pedroso,[...]. Front Genet 2019
35
11

Association of NOTCH2NLC Repeat Expansions With Parkinson Disease.
Dongrui Ma, Yi Jayne Tan, Adeline S L Ng, Helen L Ong, Weiying Sim, Weng Khong Lim, Jing Xian Teo, Ebonne Y L Ng, Ee-Chien Lim, Ee-Wei Lim,[...]. JAMA Neurol 2020
31
12

5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy.
Jianying Xi, Xilu Wang, Dongyue Yue, Tonghai Dou, Qunfeng Wu, Jun Lu, Yiqi Liu, Wenbo Yu, Kai Qiao, Jie Lin,[...]. Brain 2021
21
19

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.
Dale J Annear, Geert Vandeweyer, Ellen Elinck, Alba Sanchis-Juan, Courtney E French, Lucy Raymond, R Frank Kooy. Sci Rep 2021
7
57

The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
Jiaxi Yu, Jianwen Deng, Xueyu Guo, Jingli Shan, Xinghua Luan, Li Cao, Juan Zhao, Meng Yu, Wei Zhang, He Lv,[...]. Brain 2021
29
13


Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.
Ian T Fiddes, Gerrald A Lodewijk, Meghan Mooring, Colleen M Bosworth, Adam D Ewing, Gary L Mantalas, Adam M Novak, Anouk van den Bout, Alex Bishara, Jimi L Rosenkrantz,[...]. Cell 2018
207
6

Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation.
Ikuo K Suzuki, David Gacquer, Roxane Van Heurck, Devesh Kumar, Marta Wojno, Angéline Bilheu, Adèle Herpoel, Nelle Lambert, Julian Cheron, Franck Polleux,[...]. Cell 2018
162
6

Intrafamilial variability of XYLT2-related spondyloocular syndrome.
Naz Guleray, Pelin Ozlem Simsek Kiper, Gulen Eda Utine, Koray Boduroglu, Mehmet Alikasifoglu. Eur J Med Genet 2019
5
60

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
Aleksander Jamsheer, Ewelina M Olech, Kazimierz Kozłowski, Marek Niedziela, Anna Sowińska-Seidler, Monika Obara-Moszyńska, Anna Latos-Bieleńska, Marek Karczewski, Tomasz Zemojtel. J Hum Genet 2016
13
23

2-o-phosphorylation of xylose and 6-o-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis.
Yuko Tone, Lars C Pedersen, Tomoko Yamamoto, Tomomi Izumikawa, Hiroshi Kitagawa, Junko Nishihara, Jun-Ichi Tamura, Masahiko Negishi, Kazuyuki Sugahara. J Biol Chem 2008
51
6

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Mariam Al-Ali, Mariam S Al-Mureikhi, Shelley Kennedy, Ghalia Al-Thani, Lap-Chee Tsui, Ahmad Said Teebi. Am J Med Genet A 2004
76
6


Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Teda Arunrut, Marta Sabbadini, Mahim Jain, Keren Machol, Fernando Scaglia, Anne Slavotinek. Am J Med Genet A 2016
15
20

Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency.
R A M Buijsen, J A Visser, P Kramer, E A W F M Severijnen, M Gearing, N Charlet-Berguerand, S L Sherman, R F Berman, R Willemsen, R K Hukema. Hum Reprod 2016
51
6

Proteomics and C9orf72 neuropathology identify ribosomes as poly-GR/PR interactors driving toxicity.
Hannelore Hartmann, Daniel Hornburg, Mareike Czuppa, Jakob Bader, Meike Michaelsen, Daniel Farny, Thomas Arzberger, Matthias Mann, Felix Meissner, Dieter Edbauer. Life Sci Alliance 2018
51
6


RNA gain-of-function in spinocerebellar ataxia type 8.
Randy S Daughters, Daniel L Tuttle, Wangcai Gao, Yoshio Ikeda, Melinda L Moseley, Timothy J Ebner, Maurice S Swanson, Laura P W Ranum. PLoS Genet 2009
198
6

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS.
Tania F Gendron, Kevin F Bieniek, Yong-Jie Zhang, Karen Jansen-West, Peter E A Ash, Thomas Caulfield, Lillian Daughrity, Judith H Dunmore, Monica Castanedes-Casey, Jeannie Chew,[...]. Acta Neuropathol 2013
381
6

RNA-mediated neurodegeneration in repeat expansion disorders.
Peter K Todd, Henry L Paulson. Ann Neurol 2010
168
6

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.
Aaron R Haeusler, Christopher J Donnelly, Goran Periz, Eric A J Simko, Patrick G Shaw, Min-Sik Kim, Nicholas J Maragakis, Juan C Troncoso, Akhilesh Pandey, Rita Sattler,[...]. Nature 2014
592
6

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
Andrew C Elden, Hyung-Jun Kim, Michael P Hart, Alice S Chen-Plotkin, Brian S Johnson, Xiaodong Fang, Maria Armakola, Felix Geser, Robert Greene, Min Min Lu,[...]. Nature 2010
822
6

Anticipation in spinocerebellar ataxia type 2.
S M Pulst, A Nechiporuk, S Starkman. Nat Genet 1993
68
6

RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response.
Katelyn M Green, M Rebecca Glineburg, Michael G Kearse, Brittany N Flores, Alexander E Linsalata, Stephen J Fedak, Aaron C Goldstrohm, Sami J Barmada, Peter K Todd. Nat Commun 2017
108
6

Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress.
Yoshifumi Sonobe, Ghanashyam Ghadge, Katsuhisa Masaki, Ataman Sendoel, Elaine Fuchs, Raymond P Roos. Neurobiol Dis 2018
46
6

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.
Sarah Mizielinska, Sebastian Grönke, Teresa Niccoli, Charlotte E Ridler, Emma L Clayton, Anny Devoy, Thomas Moens, Frances E Norona, Ione O C Woollacott, Julian Pietrzyk,[...]. Science 2014
437
6

Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31.
Taro Ishiguro, Nozomu Sato, Morio Ueyama, Nobuhiro Fujikake, Chantal Sellier, Akemi Kanegami, Eiichi Tokuda, Bita Zamiri, Terence Gall-Duncan, Mila Mirceta,[...]. Neuron 2017
72
6

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.
Peter E A Ash, Kevin F Bieniek, Tania F Gendron, Thomas Caulfield, Wen-Lang Lin, Mariely Dejesus-Hernandez, Marka M van Blitterswijk, Karen Jansen-West, Joseph W Paul, Rosa Rademakers,[...]. Neuron 2013
747
6

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy.
J W Miller, C R Urbinati, P Teng-Umnuay, M G Stenberg, B J Byrne, C A Thornton, M S Swanson. EMBO J 2000
658
6

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.
Tao Zu, Yuanjing Liu, Monica Bañez-Coronel, Tammy Reid, Olga Pletnikova, Jada Lewis, Timothy M Miller, Matthew B Harms, Annet E Falchook, S H Subramony,[...]. Proc Natl Acad Sci U S A 2013
518
6

The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures.
Kaalak Reddy, Bita Zamiri, Sabrina Y R Stanley, Robert B Macgregor, Christopher E Pearson. J Biol Chem 2013
219
6


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.