A citation-based method for searching scientific literature

Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, Jorge Alonso-Perez, Eduard Gallardo, Andres Nascimento, Carlos Ortez, Daniel Natera-de Benito, Montse Olive, Laura Gonzalez-Mera, Adolfo Lopez de Munain, Miren Zulaica, Juan Jose Poza, Ivonne Jerico, Laura Torne, Pau Riera, Jose Milisenda, Aurora Sanchez, Gloria Garrabou, Isabel Llano, Marcos Madruga-Garrido, Pia Gallano. Genes (Basel) 2020
Times Cited: 3







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



Times Cited
  Times     Co-cited
Similarity


Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Jakub Piotr Fichna, Anna Macias, Marcin Piechota, Michał Korostyński, Anna Potulska-Chromik, Maria Jolanta Redowicz, Cezary Zekanowski. Hum Genomics 2018
23
66

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
66

Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Ioannis Zaganas, Vasilios Mastorodemos, Martha Spilioti, Lambros Mathioudakis, Helen Latsoudis, Kleita Michaelidou, Dimitra Kotzamani, Konstantinos Notas, Konstantinos Dimitrakopoulos, Irene Skoula,[...]. Mol Genet Metab Rep 2020
3
66

Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update.
Chengmei Sun, Luoan Shen, Zheng Zhang, Xin Xie. Genes (Basel) 2020
16
33


LMNA Mutations G232E and R482L Cause Dysregulation of Skeletal Muscle Differentiation, Bioenergetics, and Metabolic Gene Expression Profile.
Elena V Ignatieva, Oksana A Ivanova, Margarita Y Komarova, Natalia V Khromova, Dmitrii E Polev, Anna A Kostareva, Alexey Sergushichev, Renata I Dmitrieva. Genes (Basel) 2020
2
50

CRISPR-Generated Animal Models of Duchenne Muscular Dystrophy.
Kenji Rowel Q Lim, Quynh Nguyen, Kasia Dzierlega, Yiqing Huang, Toshifumi Yokota. Genes (Basel) 2020
6
33

Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.
John Jorholt, Yulia Formicheva, Tatyana Vershinina, Artem Kiselev, Alexey Muravyev, Elena Demchenko, Petr Fedotov, Anna Zlotina, Anton Rygkov, Elena Vasichkina,[...]. Genes (Basel) 2020
7
33

An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I.
Andrea López-Martínez, Patricia Soblechero-Martín, Laura de-la-Puente-Ovejero, Gisela Nogales-Gadea, Virginia Arechavala-Gomeza. Genes (Basel) 2020
8
33

Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features.
Magdalena Mroczek, Hacer Durmus, Ana Töpf, Yesim Parman, Volker Straub. Genes (Basel) 2020
4
33

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.
Virginia Garcia-Solaesa, Pablo Serrano-Lorenzo, Maria Antonia Ramos-Arroyo, Alberto Blázquez, Inmaculada Pagola-Lorz, Mercè Artigas-López, Joaquín Arenas, Miguel A Martín, Ivonne Jericó-Pascual. Genes (Basel) 2019
4
33

FLNC Expression Level Influences the Activity of TEAD-YAP/TAZ Signaling.
Anastasia Knyazeva, Aleksandr Khudiakov, Raquel Vaz, Aleksey Muravyev, Ksenia Sukhareva, Thomas Sejersen, Anna Kostareva. Genes (Basel) 2020
3
33

5
33

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.
Alfonsina Ballester-Lopez, Emma Koehorst, Ian Linares-Pardo, Judit Núñez-Manchón, Miriam Almendrote, Giuseppe Lucente, Andrea Arbex, Carles Puente, Alejandro Lucia, Darren G Monckton,[...]. Genes (Basel) 2020
1
100



Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.
Miguel Angel Alcántara-Ortigoza, Miriam Erandi Reyna-Fabián, Ariadna González-Del Angel, Bernardette Estandia-Ortega, Cesárea Bermúdez-López, Gabriela Marisol Cruz-Miranda, Matilde Ruíz-García. Genes (Basel) 2019
4
33

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.
Alfonsina Ballester-Lopez, Ian Linares-Pardo, Emma Koehorst, Judit Núñez-Manchón, Guillem Pintos-Morell, Jaume Coll-Cantí, Miriam Almendrote, Giuseppe Lucente, Andrea Arbex, Jonathan J Magaña,[...]. Genes (Basel) 2020
2
50


Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.
Leigh B Waddell, Michaela Kreissl, Andrew Kornberg, Paul Kennedy, Catriona McLean, Annick Labarre-Vila, Nicole Monnier, Kathryn N North, Nigel F Clarke. Neuromuscul Disord 2010
16
33

Identification of Mrj, a DnaJ/Hsp40 family protein, as a keratin 8/18 filament regulatory protein.
I Izawa, M Nishizawa, K Ohtakara, K Ohtsuka, H Inada, M Inagaki. J Biol Chem 2000
71
33

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Ana Ferreiro, Chantal Ceuterick-de Groote, Jared J Marks, Nathalie Goemans, Gudrun Schreiber, Folker Hanefeld, Michel Fardeau, Jean-Jacques Martin, Hans H Goebel, Pascale Richard,[...]. Ann Neurol 2004
123
33

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
K Stehlíková, D Skálová, J Zídková, J Haberlová, S Voháňka, R Mazanec, L Mrázová, P Vondráček, H Ošlejšková, J Zámečník,[...]. Clin Genet 2017
19
33

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
33

Myofibrillar myopathies.
Duygu Selcen. Neuromuscul Disord 2011
123
33

VarI-COSI 2018: a forum for research advances in variant interpretation and diagnostics.
Yana Bromberg, Emidio Capriotti, Hannah Carter. BMC Genomics 2019
1
100

Core myopathies.
Heinz Jungbluth, Caroline A Sewry, Francesco Muntoni. Semin Pediatr Neurol 2011
75
33

The Primary Causes of Muscle Dysfunction Associated with the Point Mutations in Tpm3.12; Conformational Analysis of Mutant Proteins as a Tool for Classification of Myopathies.
Yurii S Borovikov, Olga E Karpicheva, Armen O Simonyan, Stanislava V Avrova, Elena A Rogozovets, Vladimir V Sirenko, Charles S Redwood. Int J Mol Sci 2018
9
33


Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
B Moghadaszadeh, N Petit, C Jaillard, M Brockington, S Quijano Roy, L Merlini, N Romero, B Estournet, I Desguerre, D Chaigne,[...]. Nat Genet 2001
211
33

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Richard J L F Lemmers, Rabi Tawil, Lisa M Petek, Judit Balog, Gregory J Block, Gijs W E Santen, Amanda M Amell, Patrick J van der Vliet, Rowida Almomani, Kirsten R Straasheijm,[...]. Nat Genet 2012
340
33

DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy.
Kenji Rowel Q Lim, Quynh Nguyen, Toshifumi Yokota. Int J Mol Sci 2020
13
33

Two desmin gene mutations associated with myofibrillar myopathies in Polish families.
Jakub Piotr Fichna, Justyna Karolczak, Anna Potulska-Chromik, Przemyslaw Miszta, Mariusz Berdynski, Agata Sikorska, Slawomir Filipek, Maria Jolanta Redowicz, Anna Kaminska, Cezary Zekanowski. PLoS One 2014
9
33

TPM3 mutation in one of the original cases of cap disease.
Monica Ohlsson, Anna Fidzianska, Homa Tajsharghi, Anders Oldfors. Neurology 2009
27
33

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Yuya Kobayashi, Shan Yang, Keith Nykamp, John Garcia, Stephen E Lincoln, Scott E Topper. Genome Med 2017
88
33

Precision medicine needs pioneering clinical bioinformaticians.
Gonzalo Gómez-López, Joaquín Dopazo, Juan C Cigudosa, Alfonso Valencia, Fátima Al-Shahrour. Brief Bioinform 2019
18
33

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.
J A Bevilacqua, N Monnier, M Bitoun, B Eymard, A Ferreiro, S Monges, F Lubieniecki, A L Taratuto, A Laquerrière, K G Claeys,[...]. Neuropathol Appl Neurobiol 2011
75
33

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
Miloš Kubánek, Tereza Schimerová, Lenka Piherová, Andreas Brodehl, Alice Krebsová, Sandra Ratnavadivel, Caroline Stanasiuk, Hana Hansíková, Jiří Zeman, Tomáš Paleček,[...]. J Clin Med 2020
7
33

Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology.
Nino Spataro, Juan Antonio Rodríguez, Arcadi Navarro, Elena Bosch. Hum Mol Genet 2017
19
33

Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes.
Anna Kostera-Pruszczyk, Bertrand Goudeau, Ana Ferreiro, Pascal Richard, Stéphanie Simon, Patrick Vicart, Anna Fidzianska. Neuromuscul Disord 2006
1
100


Keratin 18 is an integral part of the intermediate filament network in murine skeletal muscle.
Joaquin M Muriel, Andrea O'Neill, Jaclyn P Kerr, Emily Kleinhans-Welte, Richard M Lovering, Robert J Bloch. Am J Physiol Cell Physiol 2020
4
33

A simple salting out procedure for extracting DNA from human nucleated cells.
S A Miller, D D Dykes, H F Polesky. Nucleic Acids Res 1988
33

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.
Zhiyv Niu, Carly Sabine Pontifex, Sarah Berini, Leslie E Hamilton, Elie Naddaf, Eric Wieben, Ross A Aleff, Kristina Martens, Angela Gruber, Andrew G Engel,[...]. Front Neurol 2018
12
33

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.
Ching-Wan Lam, Ka-Sing Wong, Ho-Wan Leung, Chun-Yiu Law. Eur J Hum Genet 2017
9
33

Myofibrillar myopathy in the genomic context.
Jakub Piotr Fichna, Aleksandra Maruszak, Cezary Żekanowski. J Appl Genet 2018
17
33

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.
Aaron J Masino, Elizabeth T Dechene, Matthew C Dulik, Alisha Wilkens, Nancy B Spinner, Ian D Krantz, Jeffrey W Pennington, Peter N Robinson, Peter S White. BMC Bioinformatics 2014
28
33


Integrative genomics viewer.
James T Robinson, Helga Thorvaldsdóttir, Wendy Winckler, Mitchell Guttman, Eric S Lander, Gad Getz, Jill P Mesirov. Nat Biotechnol 2011
33

A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.
Jakub P Fichna, Anna Potulska-Chromik, Przemysław Miszta, Maria Jolanta Redowicz, Anna M Kaminska, Cezary Zekanowski, Sławomir Filipek. BBA Clin 2016
20
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.