| Year |
Citation |
Score |
| 2024 |
Núñez-Carpintero I, Rigau M, Bosio M, O'Connor E, Spendiff S, Azuma Y, Topf A, Thompson R, 't Hoen PAC, Chamova T, Tournev I, Guergueltcheva V, Laurie S, Beltran S, Capella-Gutiérrez S, et al. Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes. Nature Communications. 15: 1227. PMID 38418480 DOI: 10.1038/s41467-024-45099-0 |
0.304 |
|
| 2022 |
Quintana I, Terradas M, Mur P, Te Paske IBAW, Peters S, Spier I, Steinke-Lange V, Maestro C, Torrents D, Puiggròs M, Royo R, Tonda R, Parra G, Piscia D, Beltrán S, et al. Wnt genes in colonic polyposis predisposition. Genes & Diseases. 10: 753-757. PMID 37396538 DOI: 10.1016/j.gendis.2022.12.002 |
0.445 |
|
| 2021 |
Kurul SH, Oktay Y, Töpf A, Szabó NZ, Güngör S, Yaramis A, Sonmezler E, Matalonga L, Yis U, Schon K, Paramonov I, Kalafatcilar İP, Gao F, Rieger A, Arslan N, ... ... Beltran S, et al. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. Brain : a Journal of Neurology. PMID 34791078 DOI: 10.1093/brain/awab395 |
0.313 |
|
| 2021 |
Gungor S, Oktay Y, Hiz S, Aranguren-Ibáñez Á, Kalafatcilar I, Yaramis A, Karaca E, Yis U, Sonmezler E, Ekinci B, Aslan M, Yilmaz E, Özgör B, Balaraju S, Szabo N, ... ... Beltran S, et al. Autosomal recessive variants in alter the γ-tubulin ring complex leading to neurodevelopmental disease. Iscience. 24: 101948. PMID 33458610 DOI: 10.1016/j.isci.2020.101948 |
0.342 |
|
| 2020 |
Garcia-Reyero J, Martinez Magunacelaya N, Gonzalez de Villambrosia S, Loghavi S, Gomez Mediavilla A, Tonda R, Beltran S, Gut M, Pereña Gonzalez A, d' Ámore E, Visco C, Khoury JD, Montes-Moreno S. Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma. Haematologica. PMID 32273478 DOI: 10.3324/haematol.2020.251579 |
0.357 |
|
| 2020 |
Yaramis A, Lochmüller H, Töpf A, Sonmezler E, Yilmaz E, Hiz S, Yis U, Gungor S, Ipek Polat A, Edem P, Beltran S, Laurie S, Yaramis A, Horvath R, Oktay Y. -related autosomal recessive encephalopathy in 2 Turkish children. Neurology. Genetics. 6: e392. PMID 32042920 DOI: 10.1212/NXG.0000000000000392 |
0.426 |
|
| 2019 |
García A, Aguado E, Martínez C, Loska D, Beltrán S, Valenzuela JL, Garrido D, Jamilena M. The ethylene receptors CpETR1A and CpETR2B cooperate in the control of sex determination in Cucurbita pepo. Journal of Experimental Botany. PMID 31562498 DOI: 10.1093/jxb/erz417 |
0.512 |
|
| 2019 |
Thompson R, Papakonstantinou Ntalis A, Beltran S, Töpf A, de Paula Estephan E, Polavarapu K, 't Hoen PAC, Missier P, Lochmüller H. Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder. Human Mutation. PMID 31231902 DOI: 10.1002/humu.23792 |
0.384 |
|
| 2019 |
Gómez-Miragaya J, Díaz-Navarro A, Tonda R, Beltran S, Palomero L, Palafox M, Dobrolecki LE, Huang C, Vasaikar S, Zhang B, Wulf GM, Collado-Solé A, Trinidad EM, Muñoz P, Paré L, et al. Chromosome 12p amplification in triple-negative/BRCA1-mutated breast cancer associates with emergence of docetaxel resistance and carboplatin sensitivity. Cancer Research. PMID 31213465 DOI: 10.1158/0008-5472.Can-18-3835 |
0.324 |
|
| 2019 |
Tort F, Ugarteburu O, Texidó L, Gea-Sorlí S, García-Villoria J, Ferrer-Cortès X, Arias Á, Matalonga L, Gort L, Ferrer I, Guitart-Mampel M, Garrabou G, Vaz FM, Pristoupilova A, Rodríguez MIE, ... Beltran S, et al. Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology. Human Mutation. PMID 31058414 DOI: 10.1002/humu.23779 |
0.318 |
|
| 2019 |
Díaz-Gay M, Franch-Expósito S, Arnau-Collell C, Park S, Supek F, Muñoz J, Bonjoch L, Gratacós-Mulleras A, Sánchez-Rojas PA, Esteban-Jurado C, Ocaña T, Cuatrecasas M, Vila-Casadesús M, Lozano JJ, Parra G, ... ... Beltran S, et al. Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer. Cancers. 11. PMID 30871259 DOI: 10.3390/cancers11030362 |
0.472 |
|
| 2018 |
García A, Aguado E, Parra G, Manzano S, Martínez C, Megías Z, Cebrián G, Romero J, Beltrán S, Garrido D, Jamilena M. Phenomic and Genomic Characterization of a Mutant Platform in . Frontiers in Plant Science. 9: 1049. PMID 30123227 DOI: 10.3389/fpls.2018.01049 |
0.467 |
|
| 2018 |
Gstrein T, Edwards A, Přistoupilová A, Leca I, Breuss M, Pilat-Carotta S, Hansen AH, Tripathy R, Traunbauer AK, Hochstoeger T, Rosoklija G, Repic M, Landler L, Stránecký V, Dürnberger G, ... ... Beltran S, et al. Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans. Nature Neuroscience. PMID 29311744 DOI: 10.1038/S41593-017-0053-5 |
0.378 |
|
| 2017 |
Castro-Sánchez S, Álvarez-Satta M, Tohamy MA, Beltran S, Derdak S, Valverde D. Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. Plos One. 12: e0183081. PMID 28800606 DOI: 10.1371/journal.pone.0183081 |
0.458 |
|
| 2017 |
Feliubadaló L, Tonda R, Gausachs M, Trotta JR, Castellanos E, López-Doriga A, Teulé À, Tornero E, Del Valle J, Gel B, Gut M, Pineda M, González S, Menéndez M, Navarro M, ... ... Beltran S, et al. Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer. Scientific Reports. 7: 37984. PMID 28050010 DOI: 10.1038/srep37984 |
0.44 |
|
| 2016 |
Matalonga L, Bravo M, Peinado CS, García-Pelegrí E, Ugarteburu O, Vidal S, Llambrich M, Quintana E, Fuster-Jorge P, Gonzalez-Bravo MN, Beltran S, Dopazo J, Garcia-Garcia F, Foulquier F, Matthijs G, et al. Mutations in TRAPPC11 are Associated with a Congenital Disorder of Glycosylation. Human Mutation. PMID 27862579 DOI: 10.1002/Humu.23145 |
0.42 |
|
| 2016 |
González-Vela MC, Curiel-Olmo S, Derdak S, Beltran S, Santibañez M, Martínez N, Castillo-Trujillo A, Gut M, Sánchez-Pacheco R, Almaraz C, Cereceda L, Llombart B, Agraz-Doblas A, Revert-Arce J, López Guerrero JA, et al. Shared oncogenic pathways implicated in both virus-positive and UV-induced Merkel Cell Carcinomas. The Journal of Investigative Dermatology. PMID 27592799 DOI: 10.1016/j.jid.2016.08.015 |
0.389 |
|
| 2016 |
Clop A, Sharaf A, Castelló A, Ramos-Onsins S, Cirera S, Mercadé A, Derdak S, Beltran S, Huisman A, Fredholm M, van As P, Sánchez A. Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes. Bmc Genomics. 17: 685. PMID 27566279 DOI: 10.1186/S12864-016-2972-Z |
0.429 |
|
| 2015 |
Sanz-Pamplona R, Lopez-Doriga A, Pare-Brunet L, Lazaro K, Bellido F, Alonso MH, Aussó S, Guino E, Beltran S, Castro-Giner F, Gut M, Sanjuan X, Closa A, Cordero D, Moron-Duran FD, et al. Exome sequencing reveals AMER1 as a frequently mutated gene in colorectal cancer. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. PMID 26071483 DOI: 10.1158/1078-0432.CCR-15-0159 |
0.433 |
|
| 2015 |
Vaqué JP, Martínez N, Varela I, Fernández F, Mayorga M, Derdak S, Beltrán S, Moreno T, Almaraz C, De Las Heras G, Bayés M, Gut I, Crespo J, Piris MA. Correction: colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens. Plos One. 10: e0125459. PMID 25861046 DOI: 10.1371/journal.pone.0125459 |
0.451 |
|
| 2015 |
Vaqué JP, Martínez N, Varela I, Fernández F, Mayorga M, Derdak S, Beltrán S, Moreno T, Almaraz C, De Las Heras G, Bayés M, Gut I, Crespo J, Piris MA. Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens. Plos One. 10: e0119946. PMID 25775023 DOI: 10.1371/Journal.Pone.0119946 |
0.384 |
|
| 2015 |
Esteban-Jurado C, Vila-Casadesús M, Garre P, Lozano JJ, Pristoupilova A, Beltran S, Muñoz J, Ocaña T, Balaguer F, López-Cerón M, Cuatrecasas M, Franch-Expósito S, Piqué JM, Castells A, Carracedo A, et al. Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 17: 131-42. PMID 25058500 DOI: 10.1038/gim.2014.89 |
0.441 |
|
| 2014 |
Metzger J, Tonda R, Beltran S, Águeda L, Gut M, Distl O. Next generation sequencing gives an insight into the characteristics of highly selected breeds versus non-breed horses in the course of domestication Bmc Genomics. 15. PMID 24996778 DOI: 10.1186/1471-2164-15-562 |
0.327 |
|
| 2013 |
Balbás-MartÃnez C, Sagrera A, Carrillo-de-Santa-Pau E, Earl J, Márquez M, Vazquez M, Lapi E, Castro-Giner F, Beltran S, Bayés M, Carrato A, Cigudosa JC, DomÃnguez O, Gut M, Herranz J, et al. Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy. Nature Genetics. 45: 1464-9. PMID 24121791 DOI: 10.1038/Ng.2799 |
0.302 |
|
| 2013 |
Estarás C, Fueyo R, Akizu N, Beltrán S, Martínez-Balbás MA. RNA polymerase II progression through H3K27me3-enriched gene bodies requires JMJD3 histone demethylase. Molecular Biology of the Cell. 24: 351-60. PMID 23243002 DOI: 10.1091/Mbc.E12-07-0561 |
0.382 |
|
| 2011 |
Costa E, Beltran S, Espinàs ML. Drosophila melanogaster SAP18 protein is required for environmental stress responses. Febs Letters. 585: 275-80. PMID 21146528 DOI: 10.1016/j.febslet.2010.11.058 |
0.402 |
|
| 2003 |
Beltran S, Blanco E, Serras F, Pérez-Villamil B, Guigó R, Artavanis-Tsakonas S, Corominas M. Transcriptional network controlled by the trithorax-group gene ash2 in Drosophila melanogaster. Proceedings of the National Academy of Sciences of the United States of America. 100: 3293-8. PMID 12626737 DOI: 10.1073/pnas.0538075100 |
0.584 |
|
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