A citation-based method for searching scientific literature

Silvie Franck, Lise Barbé, Simon Ardui, Yannick De Vlaeminck, Joke Allemeersch, Dominika Dziedzicka, Claudia Spits, Fien Vanroye, Pierre Hilven, Geoffrey Duqué, Joris R Vermeesch, Alexander Gheldof, Karen Sermon. Hum Mol Genet 2021
Times Cited: 2







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



Times Cited
  Times     Co-cited
Similarity


De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.
Sarah A Cumming, Mark J Hamilton, Yvonne Robb, Helen Gregory, Catherine McWilliam, Anneli Cooper, Berit Adam, Josephine McGhie, Graham Hamilton, Pawel Herzyk,[...]. Eur J Hum Genet 2018
36
50

Incidence of amplification failure in DMPK allele due to allelic dropout event in a diagnostic laboratory.
Claudia De Siena, Rosanna Cardani, Elisa Brigonzi, Francesca Bosè, Barbara Fossati, Giovanni Meola, Elena Costa, Rea Valaperta. Clin Chim Acta 2018
1
100


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
97
50



Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.
Massimo Santoro, Marcella Masciullo, Roberta Pietrobono, Giulia Conte, Anna Modoni, Maria Laura E Bianchi, Valentina Rizzo, Maria Grazia Pomponi, Giorgio Tasca, Giovanni Neri,[...]. J Neurol 2013
30
50

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.
Fernando Morales, Jillian M Couto, Catherine F Higham, Grant Hogg, Patricia Cuenca, Claudia Braida, Richard H Wilson, Berit Adam, Gerardo del Valle, Roberto Brian,[...]. Hum Mol Genet 2012
98
50

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1).
Massimo Santoro, Luana Fontana, Marcella Masciullo, Maria Laura Ester Bianchi, Salvatore Rossi, Emanuele Leoncini, Giuseppe Novelli, Annalisa Botta, Gabriella Silvestri. Biochim Biophys Acta 2015
20
50


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
50

Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1.
Maria Addis, Marianna Serrenti, Cristiana Meloni, Milena Cau, Maria Antonietta Melis. Genet Test Mol Biomarkers 2012
17
50

Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.
Stéphanie Tomé, Elodie Dandelot, Céline Dogan, Alexis Bertrand, David Geneviève, Yann Péréon, Marie Simon, Jean-Paul Bonnefont, Guillaume Bassez, Geneviève Gourdon. Hum Mutat 2018
18
50

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort.
Sarah A Cumming, Cecilia Jimenez-Moreno, Kees Okkersen, Stephan Wenninger, Ferroudja Daidj, Fiona Hogarth, Roberta Littleford, Gráinne Gorman, Guillaume Bassez, Benedikt Schoser,[...]. Neurology 2019
33
50

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene.
Erick W Loomis, John S Eid, Paul Peluso, Jun Yin, Luke Hickey, David Rank, Sarah McCalmon, Randi J Hagerman, Flora Tassone, Paul J Hagerman. Genome Res 2013
115
50

Fast Assays to Detect Interruptions in CTG.CAG Repeat Expansions.
Stéphanie Tomé, Geneviève Gourdon. Methods Mol Biol 2020
2
50

Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations.
Isis B T Joosten, Debby M E I Hellebrekers, Bianca T A de Greef, Hubert J M Smeets, Christine E M de Die-Smulders, Catharina G Faber, Monique M Gerrits. Eur J Hum Genet 2020
4
50

Long-Read Sequencing Emerging in Medical Genetics.
Tuomo Mantere, Simone Kersten, Alexander Hoischen. Front Genet 2019
106
50

Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset.
Fernando Morales, Melissa Vásquez, Eyleen Corrales, Rebeca Vindas-Smith, Carolina Santamaría-Ulloa, Baili Zhang, Mario Sirito, Marcos R Estecio, Ralf Krahe, Darren G Monckton. Hum Mol Genet 2020
9
50

Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family.
Luana Fontana, Massimo Santoro, Maria Rosaria D'Apice, Francesca Peluso, Giulia Gori, Amelia Morrone, Giuseppe Novelli, Laura Dosa, Annalisa Botta. Acta Myol 2020
2
50

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Alfonsina Ballester-Lopez, Emma Koehorst, Miriam Almendrote, Alicia Martínez-Piñeiro, Giuseppe Lucente, Ian Linares-Pardo, Judit Núñez-Manchón, Nicolau Guanyabens, Antoni Cano, Alejandro Lucia,[...]. Hum Mutat 2020
9
50

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene.
Zuzana Musova, Radim Mazanec, Anna Krepelova, Edvard Ehler, Jiri Vales, Radka Jaklova, Tomas Prochazka, Petr Koukal, Tatana Marikova, Josef Kraus,[...]. Am J Med Genet A 2009
93
50

Origin of the expansion mutation in myotonic dystrophy.
G Imbert, C Kretz, K Johnson, J L Mandel. Nat Genet 1993
193
50

Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution.
N M Murillo-Melo, L C Márquez-Quiróz, R Gómez, L Orozco, E Mendoza-Caamal, Y S Tapia-Guerrero, R Camacho-Mejorado, H Cortés, A López-Reyes, C Santana,[...]. Neuromuscul Disord 2017
4
50

A general method for the detection of large CAG repeat expansions by fluorescent PCR.
J P Warner, L H Barron, D Goudie, K Kelly, D Dow, D R Fitzpatrick, D J Brock. J Med Genet 1996
188
50

Repeat expansion diseases.
Henry Paulson. Handb Clin Neurol 2018
112
50


A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients.
Fernando Morales, Melissa Vásquez, Carolina Santamaría, Patricia Cuenca, Eyleen Corrales, Darren G Monckton. DNA Repair (Amst) 2016
48
50

Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing.
Jan Radvansky, Andrej Ficek, Gabriel Minarik, Roland Palffy, Ludevit Kadasi. Diagn Mol Pathol 2011
28
50

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.
Ida Höijer, Yu-Chih Tsai, Tyson A Clark, Paul Kotturi, Niklas Dahl, Eva-Lena Stattin, Marie-Louise Bondeson, Lars Feuk, Ulf Gyllensten, Adam Ameur. Hum Mutat 2018
30
50



Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes.
Gayle Overend, Cécilia Légaré, Jean Mathieu, Luigi Bouchard, Cynthia Gagnon, Darren G Monckton. Hum Mol Genet 2019
19
50

Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification.
M De Antonio, C Dogan, D Hamroun, M Mati, S Zerrouki, B Eymard, S Katsahian, G Bassez. Rev Neurol (Paris) 2016
92
50


The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.
Marie De Antonio, Céline Dogan, Ferroudja Daidj, Bruno Eymard, Jack Puymirat, Jean Mathieu, Cynthia Gagnon, Sandrine Katsahian, Dalil Hamroun, Guillaume Bassez. Orphanet J Rare Dis 2019
2
50

MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1.
Michael Flower, Vilija Lomeikaite, Marc Ciosi, Sarah Cumming, Fernando Morales, Kitty Lo, Davina Hensman Moss, Lesley Jones, Peter Holmans, Darren G Monckton,[...]. Brain 2019
43
50

Long-read sequencing for rare human genetic diseases.
Satomi Mitsuhashi, Naomichi Matsumoto. J Hum Genet 2020
27
50

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.
Fernando Morales, Melissa Vásquez, Patricia Cuenca, Domingo Campos, Carolina Santamaría, Gerardo Del Valle, Roberto Brian, Mauricio Sittenfeld, Darren G Monckton. Eur J Hum Genet 2015
17
50

Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles.
Annalisa Botta, Giulia Rossi, Marzia Marcaurelio, Luana Fontana, Maria Rosaria D'Apice, Francesco Brancati, Roberto Massa, Darren G Monckton, Federica Sangiuolo, Giuseppe Novelli. Eur J Hum Genet 2017
23
50

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1.
Jacob N Miller, Ellen van der Plas, Mark Hamilton, Timothy R Koscik, Laurie Gutmann, Sarah A Cumming, Darren G Monckton, Peggy C Nopoulos. Neurol Genet 2020
5
50

Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells.
Jovan Pešović, Stojan Perić, Miloš Brkušanin, Goran Brajušković, Vidosava Rakočević-Stojanović, Dušanka Savić-Pavićević. Front Genet 2018
16
50

Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development.
L Martorell, K Johnson, C A Boucher, M Baiget. Hum Mol Genet 1997
56
50

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat.
Nathaniel J Hafford-Tear, Yu-Chih Tsai, Amanda N Sadan, Beatriz Sanchez-Pintado, Christina Zarouchlioti, Geoffrey J Maher, Petra Liskova, Stephen J Tuft, Alison J Hardcastle, Tyson A Clark,[...]. Genet Med 2019
23
50

The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective.
Gary J Latham, Justine Coppinger, Andrew G Hadd, Sarah L Nolin. Front Genet 2014
28
50

The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1).
Z Matsuyama, Y Izumi, M Kameyama, H Kawakami, S Nakamura. J Med Genet 1999
32
50

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.
C Lavedan, H Hofmann-Radvanyi, P Shelbourne, J P Rabes, C Duros, D Savoy, I Dehaupas, S Luce, K Johnson, C Junien. Am J Hum Genet 1993
213
50

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.
Celine Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne-Laure Bedat-Millet, Anthony Behin,[...]. PLoS One 2016
69
50

Importance of forkhead transcription factor Fkhl18 for development of testicular vasculature.
Yuko Sato, Takashi Baba, Mohamad Zubair, Kanako Miyabayashi, Yoshiro Toyama, Mamiko Maekawa, Akiko Owaki, Hirofumi Mizusaki, Tatsuya Sawamura, Kiyotaka Toshimori,[...]. Mol Reprod Dev 2008
17
50

Methionine metabolism regulates maintenance and differentiation of human pluripotent stem cells.
Nobuaki Shiraki, Yasuko Shiraki, Tomonori Tsuyama, Fumiaki Obata, Masayuki Miura, Genta Nagae, Hiroyuki Aburatani, Kazuhiko Kume, Fumio Endo, Shoen Kume. Cell Metab 2014
263
50


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.