International research journal publications

The Whole Genix team is involved in cancer projects as well as in mental disorders ones, in which it actively collaborates with different R+D+I projects with various institutions and hospitals.

+Dynamic functional connectivity reveals altered variability in functional connectivity among patients with major depressive disorder

Demirtaş M, Tornador C, Falcón C, López-Solà M, Hernández-Ribas R, Pujol J, Menchón JM, Ritter P, Cardoner N, Soriano-Mas C, Deco G.

Hum Brain Mapp. 2016 Apr 28. doi: 10.1002/hbm.23215.[Epub ahead of print]

PMID: 27120982

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+Altered resting-state whole-brain functional networks of neonates with intrauterine growth restriction

Batalle D, Muñoz-Moreno E, Tornador C, Bargallo N, Deco G, Eixarch E, Gratacos E.

Cortex. 2016 Jan 29;77:119-131. doi: 10.1016/j.cortex.2016.01.012. [Epub ahead of print]

PMID: 26927726

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+Genomic insights into the Ixodesscapularis tick vector of Lyme disease

Gulia-Nuss M, Nuss AB, Meyer JM, Sonenshine DE, Roe RM, Waterhouse RM, Sattelle DB, de la Fuente J, Ribeiro JM, Megy K, Thimmapuram J, Miller JR, Walenz BP, Koren S, Hostetler JB, Thiagarajan M, Joardar VS, Hannick LI, Bidwell S, Hammond MP, Young S, Zeng Q, Abrudan JL, Almeida FC, Ayllón N, Bhide K, Bissinger BW, Bonzon-Kulichenko E, Buckingham SD, Caffrey DR, Caimano MJ, Croset V, Driscoll T, Gilbert D, Gillespie JJ, Giraldo-Calderón GI, Grabowski JM, Jiang D, Khalil SM, Kim D, Kocan KM, Koči J, Kuhn RJ, Kurtti TJ, Lees K, Lang EG, Kennedy RC, Kwon H, Perera R, Qi Y, Radolf JD, Sakamoto JM, Sánchez-Gracia A, Severo MS, Silverman N, Šimo L, Tojo M, Tornador C, Van Zee JP, Vázquez J, Vieira FG, Villar M, Wespiser AR, Yang Y, Zhu J, Arensburger P, Pietrantonio PV, Barker SC, Shao R, Zdobnov EM, Hauser F, Grimmelikhuijzen CJ, Park Y, Rozas J, Benton R, Pedra JH, Nelson DR, Unger MF, Tubio JM, Tu Z, Robertson HM, Shumway M, Sutton G, Wortman JR, Lawson D, Wikel SK, Nene VM, Fraser CM, Collins FH, Birren B, Nelson KE, Caler E, Hill CA.

Nat Commun. 2016 Feb 9;7:10507. doi: 10.1038/ncomms10507.

PMID: 26856261

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+Altered amygdalar resting-state connectivity in depression is explained by both genes and environment

Córdova-Palomera A, Tornador C, Falcón C, Bargalló N, Nenadic I, Deco G, Fañanás L.

Hum Brain Mapp. 2015 Oct;36(10):3761-76. doi: 10.1002/hbm.22876. Epub 2015 Jun 19.

PMID: 26096943

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+Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis

Bassaganyas L, Beà S, Escaramís G, Tornador C, Salaverria I, Zapata L, Drechsel O, Ferreira PG, Rodriguez-Santiago B, Tubio JM, Navarro A, Martín-García D, López C, Martínez-Trillos A, López-Guillermo A, Gut M, Ossowski S, López-Otín C, Campo E, Estivill X.

Leukemia. 2015 Mar;29(3):758. doi: 10.1038/leu.2014.309. No abstractavailable.

PMID: 25738466

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+Kin-Driver: a database of driver mutations in protein kinases

Simonetti FL, Tornador C, Nabau-Moretó N, Molina-Vila MA, Marino-Buslje C.

Database (Oxford). 2014 Nov 19;2014:bau104. doi: 10.1093/database/bau104. Print 2014.

PMID: 25414382

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+Activating mutations cluster in the molecular brake regions of protein kinases and do not associate with conserved or catalytic residues

Molina-Vila MA, Nabau-Moretó NTornador C, Sabnis AJ, Rosell R, Estivill X, Bivona TG, Marino-Buslje C.

Hum Mutat. 2014 Mar;35(3):318-28. doi: 10.1002/humu.22493. Epub 2014 Jan 8.

PMID: 24323975

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+Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing

Trujillano D, Perez B, González J, Tornador C, Navarrete R, Escaramis G, Ossowski S, Armengol L, Cornejo V, Desviat LR, Ugarte M, Estivill X.

Eur J Hum Genet. 2014 Apr;22(4):528-34. doi: 10.1038/ejhg.2013.175. Epub 2013 Aug 14.

PMID: 23942198

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+PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data

Escaramís G, Tornador C, Bassaganyas L, Rabionet R, Tubio JM, Martínez-Fundichely A, Cáceres M, Gut M, Ossowski S, Estivill X.

PLoS One. 2013 May 21;8(5):e63377. doi: 10.1371/journal.pone.0063377. Print 2013.

PMID: 23704902

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+Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR

Trujillano D, Ramos MD, González J, Tornador C, Sotillo F, Escaramis G, Ossowski S, Armengol L, Casals T, Estivill X.

J Med Genet. 2013 Jul;50(7):455-62. doi: 10.1136/jmedgenet-2013-101602. Epub 2013 May 17.

PMID: 23687349

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+Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

Puente XS, Pinyol M, Quesada V, Conde L, Ordóñez GR, Villamor N, Escaramis G, Jares P, Beà S, González-Díaz M, Bassaganyas L, Baumann T, Juan M, López-Guerra M, Colomer D, Tubío JM, López C, Navarro A, Tornador C, Aymerich M, Rozman M, Hernández JM, Puente DA, Freije JM, Velasco G, Gutiérrez-Fernández A, Costa D, Carrió A, Guijarro S, Enjuanes A, Hernández L, Yagüe J, Nicolás P, Romeo-Casabona CM, Himmelbauer H, Castillo E, Dohm JC, de Sanjosé S, Piris MA, de Alava E, San Miguel J, Royo R, Gelpí JL, Torrents D, Orozco M, Pisano DG, Valencia A, Guigó R, Bayés M, Heath S, Gut M, Klatt P, Marshall J, Raine K, Stebbings LA, Futreal PA, Stratton MR, Campbell PJ, Gut I, López-Guillermo A, Estivill X, Montserrat E, López-Otín C, Campo E.

Nature. 2011 Jun 5;475(7354):101-5. doi: 10.1038/nature10113.

PMID: 21642962

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+Evolutionary dynamics of the Ty3/gypsy LTR retrotransposons in the genome of Anopheles gambiae

Tubio JM, Tojo M, Bassaganyas L, Escaramis G, Sharakhov IV, Sharakhova MV, Tornador C, Unger MF, Naveira H, Costas J, Besansky NJ.

PLoS One. 2011 Jan 24;6(1):e16328. doi: 10.1371/journal.pone.0016328.

PMID: 21283637

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Research projects in which Whole Genix is participating

+Identification of new sources of genomic variability associated to common human disorders

Spanish Ministry of Economy and Competitiveness. 2009‐2014.  Spanish Plan Nacional funding SAF2008‐00357. Principal Investigator: Xavier Estivill.


+GEUVADIS (Genetic European Variation in Disease)

European Commission under the 7th Framework programme. 2009‐2014. Principal Investigator: Xavier Estivill.


+Leducq Foundation – Mitral Mission

Is a program designed to establish a European- American network of excellence focused on developing new insights into the mechanism of mitral valve disease with the aim of improving therapy. 2009‐2013. Principal Investigator: Jean‐Jacques Schott.


+Evolutionary Dynamics of the Ty3/Gypsy LTR Retrotransposons in the Genome of Anopheles gambiae

National Institutes of Health grant AI63508

+Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

This work was funded by the Spanish Ministry of Science and Innovation (MICINN) through the Instituto de Salud Carlos III (ISCIII) and Red Temática de InvestigacióndelCáncer (RTICC) del ISCIII.

+Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis

Spanish Plan Nacional funding SAF2008-00357 (NOVADIS), the Generalitat de Catalunya funding AGAUR 2009 SGR-1502, the Ministry of Economy and Competitiveness funding to CLL-Consortium project and the ESGI–European Commission Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 262055. SNP genotyping services were provided by the Spanish ‘Centro Nacional de Genotipado (CEGEN-ISCIII)

+Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR

This project was funded by the Spanish Plan Nacional SAF2008–00357 (NOVADIS); the Generalitat de Catalunya AGAUR 2009 SGR-1502; the Instituto de Salud Carlos III (FIS/FEDER PI11/00733); and the European Commission 7th Framework Program, Project N. 261123 (GEUVADIS), and Project N. 262055 (ESGI)

+PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data

This work was supported by AGAUR (Generalitat de Catalunya, 2009 SGR 1502); CIBERESP (Instituto de Salud Carlos III); ESGI (European Commission, 262055_ESGI), ENGAGE (European Commission, ENGAGE_201413), TECHGENE (European Commission, TECHGENE_223143), and GEUVADIS (European Commission, 261123_GEUVADIS); NOVADIS (Ministerio de Ciencia y Technologia, SAF2008-00357; Xavier Estivill); Galicia Government Xunta de Galicia (Spain) through the project number 10PXIB918057

+Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing

This project was funded using the Spanish Plan Nacional SAF2008-00357 (NOVADIS); the Instituto de Salud Carlos III (FIS/FEDER PI11/00733); and the European Commission 7th Framework Program, Project N. 261123 (GEUVADIS), and Project N. 262055 (ESGI)

+Activating Mutations Cluster in the Molecular Brake Regions of Protein Kinases and Do Not Associate with Conserved or Catalytic Residues

CONICET. Grant Numbers: PIP1936, PIP0087

+Altered amygdalar resting-state connectivity in depression is explained by both genes and environment

  • Spanish. Grant Number: SAF2008-05674-C03-01
  • European Twins Study Network on Schizophrenia Research Training Network. GrantNumber: EUTwinsS, MRTN-CT-2006-035987
  • Catalan. Grant Number: 2014SGR1636
  • Ministry of Science and Innovation in frame of ERA-NET NEURON. Grant Number: PIM2010ERN-00642
  • ERC Advanced Grant DYSTRUCTURE. Grant Number: 295129
  • FET Flagship Human Brain Project. Grant Number: 604102
  • Spanish Government. Grant Number: PSI2013-42091
  • FP7-ICT BrainScaleS. Grant Number: 269921
  • GrantNumber: 269459
  • EraNet Neuron SEMAINE. Grant Number: PCIN-2013-026

This project has been funded in part with federal funds from the National Institute of Allergy and Infectious Diseases, National Institutes of Health, Department of Health and Human Services under contract numbers N01-AI30071, HHSN272200900007C, HHSN266200400001C and 5R01GM77117-5.  Support from the Broad Genomics Platform is gratefully acknowledged.

+Genomic insights into the Ixodesscapularis tick vector of Lyme disease

This project has been funded in part with federal funds from the National Institute of Allergy and Infectious Diseases, National Institutes of Health, Department of Health and Human Services under contract numbers N01-AI30071, HHSN272200900007C, HHSN266200400001C and 5R01GM77117-5.  Support from the Broad Genomics Platform is gratefully acknowledged.

+Altered resting-state whole-brain functional networks of neonates with intrauterine growth restriction

The images used were acquired in the Magnetic Resonance core facility of Institut d’Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain. This work was supported by grants from: Obra Social “la Caixa”, Barcelona, Spain; The Cerebral Foundation for the Brain-Injured Child, Carmarthen, Wales, UK; Fundacion Dexeus, Barcelona, Spain; “Integrado en el Plan Nacional de I+D+I y cofinanciado por el ISCIII-Subdirección General de Evaluación y el Fondo Europeo de Desarrollo Regional (FEDER).

+Dynamic functional connectivity reveals altered variability in functional connectivity among patients with major depressive disorder

Contract grant sponsor: Spanish Research Project; Contract grant number: PSI2013-42091-P; Contract grant sponsor: European Union Seventh Framework Programme (FP7-ICT Human Brain Project; Contract grant number: 60402; Contract grant number: CP10/00604