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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2001 3
2003 3
2004 4
2005 5
2006 1
2008 1
2009 2
2013 1
2014 2
2015 1
2016 2
2017 2
2018 6
2019 3
2020 3
2021 7
2022 4
2023 4
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

53 results

Results by year

Filters applied: . Clear all
Page 1
A critical spotlight on the paradigms of FFPE-DNA sequencing.
Steiert TA, Parra G, Gut M, Arnold N, Trotta JR, Tonda R, Moussy A, Gerber Z, Abuja PM, Zatloukal K, Röcken C, Folseraas T, Grimsrud MM, Vogel A, Goeppert B, Roessler S, Hinz S, Schafmayer C, Rosenstiel P, Deleuze JF, Gut IG, Franke A, Forster M. Steiert TA, et al. Among authors: tonda r. Nucleic Acids Res. 2023 Aug 11;51(14):7143-7162. doi: 10.1093/nar/gkad519. Nucleic Acids Res. 2023. PMID: 37351572 Free PMC article. Review.
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.
Wnt genes in colonic polyposis predisposition.
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, Navarro M, Piñol V, Brunet J, Gonzalez-Abuin N, Aiza G, Sommer A, van Herwaarden Y, Astuti G, Holinski-Feder E, Hoogerbrugge N, de Voer RM, Aretz S, Capellá G, Valle L. Quintana I, et al. Among authors: tonda r. Genes Dis. 2022 Dec 29;10(3):753-757. doi: 10.1016/j.gendis.2022.12.002. eCollection 2023 May. Genes Dis. 2022. PMID: 37396538 Free PMC article. No abstract available.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Among authors: tonda r. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 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.
Exome-wide rare variant analysis in familial essential tremor.
Diez-Fairen M, Houle G, Ortega-Cubero S, Bandres-Ciga S, Alvarez I, Carcel M, Ibañez L, Fernandez MV, Budde JP, Trotta JR, Tonda R, Chong JX, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics (UWCMG); Aguilar M, Tartari JP, Gironell A, García-Martín E, Agundez JA, Alonso-Navarro H, Jimenez-Jimenez FJ, Fernandez M, Valldeoriola F, Marti MJ, Tolosa E, Coria F, Pastor MA, Vilariño-Güell C, Rajput A, Dion PA, Cruchaga C, Rouleau GA, Pastor P. Diez-Fairen M, et al. Among authors: tonda r. Parkinsonism Relat Disord. 2021 Jan;82:109-116. doi: 10.1016/j.parkreldis.2020.11.021. Epub 2020 Nov 24. Parkinsonism Relat Disord. 2021. PMID: 33279834 Free PMC article.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Laurie S, Piscia D, Matalonga L, Corvó A, Fernández-Callejo M, Garcia-Linares C, Hernandez-Ferrer C, Luengo C, Martínez I, Papakonstantinou A, Picó-Amador D, Protasio J, Thompson R, Tonda R, Bayés M, Bullich G, Camps-Puchadas J, Paramonov I, Trotta JR, Alonso A, Attimonelli M, Béroud C, Bros-Facer V, Buske OJ, Cañada-Pallarés A, Fernández JM, Hansson MG, Horvath R, Jacobsen JOB, Kaliyaperumal R, Lair-Préterre S, Licata L, Lopes P, López-Martín E, Mascalzoni D, Monaco L, Pérez-Jurado LA, Posada de la Paz M, Rambla J, Rath A, Riess O, Robinson PN, Salgado D, Smedley D, Spalding D, 't Hoen PAC, Töpf A, Zaharieva I, Graessner H, Gut IG, Lochmüller H, Beltran S. Laurie S, et al. Among authors: tonda r. Hum Mutat. 2022 Jun;43(6):717-733. doi: 10.1002/humu.24353. Hum Mutat. 2022. PMID: 35178824 Free PMC article.
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.
Olson ND, Wagner J, McDaniel J, Stephens SH, Westreich ST, Prasanna AG, Johanson E, Boja E, Maier EJ, Serang O, Jáspez D, Lorenzo-Salazar JM, Muñoz-Barrera A, Rubio-Rodríguez LA, Flores C, Kyriakidis K, Malousi A, Shafin K, Pesout T, Jain M, Paten B, Chang PC, Kolesnikov A, Nattestad M, Baid G, Goel S, Yang H, Carroll A, Eveleigh R, Bourgey M, Bourque G, Li G, Ma C, Tang L, Du Y, Zhang S, Morata J, Tonda R, Parra G, Trotta JR, Brueffer C, Demirkaya-Budak S, Kabakci-Zorlu D, Turgut D, Kalay Ö, Budak G, Narcı K, Arslan E, Brown R, Johnson IJ, Dolgoborodov A, Semenyuk V, Jain A, Tetikol HS, Jain V, Ruehle M, Lajoie B, Roddey C, Catreux S, Mehio R, Ahsan MU, Liu Q, Wang K, Sahraeian SME, Fang LT, Mohiyuddin M, Hung C, Jain C, Feng H, Li Z, Chen L, Sedlazeck FJ, Zook JM. Olson ND, et al. Among authors: tonda r. Cell Genom. 2022 May 11;2(5):100129. doi: 10.1016/j.xgen.2022.100129. Epub 2022 Apr 27. Cell Genom. 2022. PMID: 35720974 Free PMC article.
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.
Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma.
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. Garcia-Reyero J, et al. Among authors: tonda r. Haematologica. 2021 Apr 1;106(4):1120-1128. doi: 10.3324/haematol.2020.251579. Haematologica. 2021. PMID: 32273478 Free PMC article.
53 results