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: 44







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



Times Cited
  Times     Co-cited
Similarity


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
36

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
159
34

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
31

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
134
31

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
164
29

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
27

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
27

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
112
27

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
27

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
122
27

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
25


Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.
S J Knight, A V Flannery, M C Hirst, L Campbell, Z Christodoulou, S R Phelps, J Pointon, H R Middleton-Price, A Barnicoat, M E Pembrey. Cell 1993
498
25

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
578
25

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
22

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
22

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.
S E Holmes, E E O'Hearn, M G McInnis, D A Gorelick-Feldman, J J Kleiderlein, C Callahan, N G Kwak, R G Ingersoll-Ashworth, M Sherr, A J Sumner,[...]. Nat Genet 1999
331
22

XYLT1 mutations in Desbuquois dysplasia type 2.
Catherine Bui, Céline Huber, Beyhan Tuysuz, Yasemin Alanay, Christine Bole-Feysot, Jules G Leroy, Geert Mortier, Patrick Nitschke, Arnold Munnich, Valérie Cormier-Daire. Am J Hum Genet 2014
74
22

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

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
22

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
43
23

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
20

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
839
20

A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.
Eric D Wieben, Ross A Aleff, Nirubol Tosakulwong, Malinda L Butz, W Edward Highsmith, Albert O Edwards, Keith H Baratz. PLoS One 2012
141
20

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
567
20

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
20

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
20

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
986
20

CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.
Birgitta Winnepenninckx, Kim Debacker, Jacqueline Ramsay, Dominique Smeets, Arie Smits, David R FitzPatrick, R Frank Kooy. Am J Hum Genet 2007
62
20

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.
Sofie Metsu, Jacqueline K Rainger, Kim Debacker, Birgitta Bernhard, Liesbeth Rooms, Daria Grafodatskaya, Rosanna Weksberg, Eric Fombonne, Martin S Taylor, Stephen W Scherer,[...]. Hum Mutat 2014
19
47

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
245
20

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
893
18

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
18

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

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
19

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
669
18

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
15

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.
Chantal Sellier, Ronald A M Buijsen, Fang He, Sam Natla, Laura Jung, Philippe Tropel, Angeline Gaucherot, Hugues Jacobs, Hamid Meziane, Alexandre Vincent,[...]. Neuron 2017
125
15

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake, Ryo Kogawa, Aritoshi Iida, Hironori Ito, Hiroshi Kitoh, Aya Hirayama, Hiroshi Mitsubuchi, Osamu Miyazaki,[...]. Am J Hum Genet 2013
79
15

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
Anas M Alazami, Sarah M Al-Qattan, Eissa Faqeih, Amal Alhashem, Muneera Alshammari, Fatema Alzahrani, Mohammed S Al-Dosari, Nisha Patel, Afaf Alsagheir, Bassam Binabbas,[...]. Hum Genet 2016
62
15

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Julia Schreml, Burak Durmaz, Ozgur Cogulu, Katharina Keupp, Filippo Beleggia, Esther Pohl, Esther Milz, Mahmut Coker, Sema Kalkan Ucar, Gudrun Nürnberg,[...]. Hum Genet 2014
48
15

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Craig F Munns, Somayyeh Fahiminiya, Nabin Poudel, Maria Cristina Munteanu, Jacek Majewski, David O Sillence, Jordan P Metcalf, Andrew Biggin, Francis Glorieux, François Fassier,[...]. Am J Hum Genet 2015
46
15

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.
Fransiska Malfait, Ariana Kariminejad, Tim Van Damme, Caroline Gauche, Delfien Syx, Faten Merhi-Soussi, Sandrine Gulberti, Sofie Symoens, Suzanne Vanhauwaert, Andy Willaert,[...]. Am J Hum Genet 2013
82
15

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
François Cartault, Patrick Munier, Marie-Line Jacquemont, Jeannine Vellayoudom, Bérénice Doray, Christine Payet, Hanitra Randrianaivo, Jean-Marc Laville, Arnold Munnich, Valérie Cormier-Daire. Eur J Hum Genet 2015
47
15

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.
S E Holmes, E O'Hearn, A Rosenblatt, C Callahan, H S Hwang, R G Ingersoll-Ashworth, A Fleisher, G Stevanin, A Brice, N T Potter,[...]. Nat Genet 2001
196
15

Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.
D Cristopher Bragg, Kotchaphorn Mangkalaphiban, Christine A Vaine, Nichita J Kulkarni, David Shin, Rachita Yadav, Jyotsna Dhakal, Mai-Linh Ton, Anne Cheng, Christopher T Russo,[...]. Proc Natl Acad Sci U S A 2017
73
15

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
329
15

FRA2A is a CGG repeat expansion associated with silencing of AFF3.
Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, Martin S Taylor, Hemant Bengani, David I Wilson, Chandra Sekhar Reddy Chilamakuri, Harris Morrison, Geert Vandeweyer, Edwin Reyniers,[...]. PLoS Genet 2014
27
25

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
15

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
576
15


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.