Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

53 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Quantification of rare somatic single nucleotide variants by droplet digital PCR using SuperSelective primers.
Pablo-Fontecha V, Hernández-Illán E, Reparaz A, Asensio E, Morata J, Tonda R, Lahoz S, Parra C, Lozano JJ, García-Heredia A, Martínez-Roca A, Beltran S, Balaguer F, Jover R, Castells A, Trullàs R, Podlesniy P, Camps J. Pablo-Fontecha V, et al. Among authors: tonda r. Sci Rep. 2023 Nov 3;13(1):18997. doi: 10.1038/s41598-023-39874-0. Sci Rep. 2023. PMID: 37923774 Free PMC article.
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
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, Capellá G, Gut I, Serra E, Brunet J, Beltran S, Lázaro C. Feliubadaló L, et al. Among authors: tonda r. Sci Rep. 2017 Jan 4;7:37984. doi: 10.1038/srep37984. Sci Rep. 2017. PMID: 28050010 Free PMC article.
Diagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS.
Garcia-Reyero J, Martinez Magunacelaya N, Gonzalez de Villambrosia S, Gomez Mediavilla A, Urquieta Lam M, Insunza A, Tonda R, Beltran S, Gut M, Gonzalez A, Montes-Moreno S. Garcia-Reyero J, et al. Among authors: tonda r. J Clin Pathol. 2020 Sep;73(9):571-577. doi: 10.1136/jclinpath-2019-206282. Epub 2020 Jan 24. J Clin Pathol. 2020. PMID: 31980558
Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.
Guijarro F, López-Guerra M, Morata J, Bataller A, Paz S, Cornet-Masana JM, Banús-Mulet A, Cuesta-Casanovas L, Carbó JM, Castaño-Díez S, Jiménez-Vicente C, Cortés-Bullich A, Triguero A, Martínez-Roca A, Esteban D, Gómez-Hernando M, Álamo Moreno JR, López-Oreja I, Garrote M, Risueño RM, Tonda R, Gut I, Colomer D, Díaz-Beya M, Esteve J. Guijarro F, et al. Among authors: tonda r. Blood Adv. 2023 Oct 10;7(19):5799-5811. doi: 10.1182/bloodadvances.2023009742. Blood Adv. 2023. PMID: 37450374 Free PMC article.
Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.
Ferre-Fernández JJ, Aroca-Aguilar JD, Medina-Trillo C, Bonet-Fernández JM, Méndez-Hernández CD, Morales-Fernández L, Corton M, Cabañero-Valera MJ, Gut M, Tonda R, Ayuso C, Coca-Prados M, García-Feijoo J, Escribano J. Ferre-Fernández JJ, et al. Among authors: tonda r. Sci Rep. 2017 Apr 11;7:46175. doi: 10.1038/srep46175. Sci Rep. 2017. PMID: 28397860 Free PMC article.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. Among authors: tonda r. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data.
Maceda I, Álvarez MM, Athanasiadis G, Tonda R, Camps J, Beltran S, Camps A, Fàbrega J, Felisart J, Grané J, Remón JL, Serra J, Moral P, Lao O. Maceda I, et al. Among authors: tonda r. Eur J Hum Genet. 2021 Oct;29(10):1557-1565. doi: 10.1038/s41431-021-00875-0. Epub 2021 Apr 9. Eur J Hum Genet. 2021. PMID: 33837278 Free PMC article.
Chromosome 12p Amplification in Triple-Negative/BRCA1-Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin Sensitivity.
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-Sole A, Trinidad EM, Muñoz P, Paré L, Prat A, Bruna A, Caldas C, Arribas J, Soler-Monso MT, Petit A, Balmaña J, Cruz C, Serra V, Pujana MA, Lewis MT, Puente XS, González-Suárez E. Gómez-Miragaya J, et al. Among authors: tonda r. Cancer Res. 2019 Aug 15;79(16):4258-4270. doi: 10.1158/0008-5472.CAN-18-3835. Epub 2019 Jun 18. Cancer Res. 2019. PMID: 31213465
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).
Genis D, Ortega-Cubero S, San Nicolás H, Corral J, Gardenyes J, de Jorge L, López E, Campos B, Lorenzo E, Tonda R, Beltran S, Negre M, Obón M, Beltran B, Fàbregas L, Alemany B, Márquez F, Ramió-Torrentà L, Gich J, Volpini V, Pastor P. Genis D, et al. Among authors: tonda r. Neurology. 2018 Nov 20;91(21):e1988-e1998. doi: 10.1212/WNL.0000000000006550. Epub 2018 Oct 31. Neurology. 2018. PMID: 30381368
53 results