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Items: 1 to 20 of 208

1.

Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022.

Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, Heringa J, Holub P, Hooyberghs J, Juty N, Keane TM, Korbel JO, Lappalainen I, Leskosek B, Matthijs G, Mayrhofer MT, Metspalu A, Navarro A, Newhouse S, Nyrönen T, Page A, Persson B, Palotie A, Parkinson H, Rambla J, Salgado D, Steinfelder E, Swertz MA, Valencia A, Varma S, Blomberg N, Scollen S.

Nat Rev Genet. 2019 Sep 13. doi: 10.1038/s41576-019-0178-3. [Epub ahead of print]

PMID:
31520075
2.

Blood eosinophil count and airway epithelial transcriptome relationships in COPD versus asthma.

George L, Taylor AR, Esteve-Codina A, Soler Artigas M, Thun GA, Bates S, Pavlidis S, Wagers S, Boland A, Prasse A, Boschetto P, Parr DG, Nowinski A, Barta I, Hohlfeld J, Greulich T, van den Berge M, Hiemstra PS, Timens W, Hinks T, Wenzel S, Siddiqui S, Richardson M, Venge P, Heath S, Gut I, Tobin MD, Edwards L, Riley JH, Djukanovic R, Auffray C, De-Meulder B, Erik-Dahlen S, Adcock IM, Chung KF, Ziegler-Heitbrock L, Sterk PJ, Singh D, Brightling CE; U-BIOPRED and the EvA study teams.

Allergy. 2019 Sep 10. doi: 10.1111/all.14016. [Epub ahead of print]

PMID:
31506971
3.

Leveraging European infrastructures to access 1 million human genomes by 2022.

Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, Heringa J, Holub P, Hooyberghs J, Juty N, Keane TM, Korbel JO, Lappalainen I, Leskosek B, Matthijs G, Mayrhofer MT, Metspalu A, Navarro A, Newhouse S, Nyrönen T, Page A, Persson B, Palotie A, Parkinson H, Rambla J, Salgado D, Steinfelder E, Swertz MA, Valencia A, Varma S, Blomberg N, Scollen S.

Nat Rev Genet. 2019 Aug 27. doi: 10.1038/s41576-019-0156-9. [Epub ahead of print] Review. Erratum in: Nat Rev Genet. 2019 Sep 13;:.

PMID:
31455890
4.

Scientific Business Abstracts of the 112th Annual Meeting of the Association of Physicians of Great Britain and Ireland.

Chauhan A, Lalor T, Watson S, Adams D, Farrah TE, Anand A, Kimmitt R, Mills NL, Webb DJ, Dhaun N, Kalla R, Adams A, Vatn S, Bonfliglio F, Nimmo E, Kennedy N, Ventham N, Vatn M, Ricanek P, Halfvarson J, Soderhollm J, Pierik M, Torkvist L, Gomollon F, Gut I, Jahnsen J, Satsangi J, Body R, Almashali M, McDowell G, Taylor P, Lacey A, Rees A, Dayan C, Lazarus J, Nelson S, Okosieme O, Corcoran D, Young R, Ciadella P, McCartney P, Bajrangee A, Hennigan B, Collison D, Carrick D, Shaukat A, Good R, Watkins S, McEntegart M, Watt J, Welsh P, Sattar N, McConnachie A, Oldroyd K, Berry C, Parks T, Auckland K, Mentzer AJ, Kado J, Mirabel MM, Kauwe JK, Robson KJ, Mittal B, Steer AC, Hill AVS, Akbar M, Forrester M, Virlan AT, Gilmour A, Wallace C, Paterson C, Reid D, Siebert S, Porter D, Liversidge J, McInnes I, Goodyear C, Athwal V, Pritchett J, Zaitoun A, Irving W, Guha IN, Hanley NA, Hanley KP, Briggs T, Reynolds J, Rice G, Bondet V, Bruce E, Crow Y, Duffy D, Parker B, Bruce I, Martin K, Pritchett J, Aoibheann Mullan M, Llewellyn J, Athwal V, Zeef L, Farrow S, Streuli C, Henderson N, Friedman S, Hanley N, Hanley KP.

QJM. 2018 Dec 1;111(12):920-924. doi: 10.1093/qjmed/hcy193. No abstract available.

PMID:
31222346
5.

Clonal dynamics monitoring during clinical evolution in chronic lymphocytic leukaemia.

González-Rincón J, Gómez S, Martinez N, Troulé K, Perales-Patón J, Derdak S, Beltrán S, Fernández-Cuevas B, Pérez-Sanz N, Nova-Gurumeta S, Gut I, Al-Shahrour F, Piris MA, García-Marco JA, Sánchez-Beato M.

Sci Rep. 2019 Jan 30;9(1):975. doi: 10.1038/s41598-018-37389-7.

6.

Chromatin-Based Classification of Genetically Heterogeneous AMLs into Two Distinct Subtypes with Diverse Stemness Phenotypes.

Yi G, Wierenga ATJ, Petraglia F, Narang P, Janssen-Megens EM, Mandoli A, Merkel A, Berentsen K, Kim B, Matarese F, Singh AA, Habibi E, Prange KHM, Mulder AB, Jansen JH, Clarke L, Heath S, van der Reijden BA, Flicek P, Yaspo ML, Gut I, Bock C, Schuringa JJ, Altucci L, Vellenga E, Stunnenberg HG, Martens JHA.

Cell Rep. 2019 Jan 22;26(4):1059-1069.e6. doi: 10.1016/j.celrep.2018.12.098.

7.

Selective single molecule sequencing and assembly of a human Y chromosome of African origin.

Kuderna LFK, Lizano E, Julià E, Gomez-Garrido J, Serres-Armero A, Kuhlwilm M, Alandes RA, Alvarez-Estape M, Juan D, Simon H, Alioto T, Gut M, Gut I, Schierup MH, Fornas O, Marques-Bonet T.

Nat Commun. 2019 Jan 2;10(1):4. doi: 10.1038/s41467-018-07885-5.

8.

Dynamics of Transcription Regulation in Human Bone Marrow Myeloid Differentiation to Mature Blood Neutrophils.

Grassi L, Pourfarzad F, Ullrich S, Merkel A, Were F, Carrillo-de-Santa-Pau E, Yi G, Hiemstra IH, Tool ATJ, Mul E, Perner J, Janssen-Megens E, Berentsen K, Kerstens H, Habibi E, Gut M, Yaspo ML, Linser M, Lowy E, Datta A, Clarke L, Flicek P, Vingron M, Roos D, van den Berg TK, Heath S, Rico D, Frontini M, Kostadima M, Gut I, Valencia A, Ouwehand WH, Stunnenberg HG, Martens JHA, Kuijpers TW.

Cell Rep. 2018 Sep 4;24(10):2784-2794. doi: 10.1016/j.celrep.2018.08.018.

9.

Epigenetic prediction of response to anti-PD-1 treatment in non-small-cell lung cancer: a multicentre, retrospective analysis.

Duruisseaux M, Martínez-Cardús A, Calleja-Cervantes ME, Moran S, Castro de Moura M, Davalos V, Piñeyro D, Sanchez-Cespedes M, Girard N, Brevet M, Giroux-Leprieur E, Dumenil C, Pradotto M, Bironzo P, Capelletto E, Novello S, Cortot A, Copin MC, Karachaliou N, Gonzalez-Cao M, Peralta S, Montuenga LM, Gil-Bazo I, Baraibar I, Lozano MD, Varela M, Ruffinelli JC, Palmero R, Nadal E, Moran T, Perez L, Ramos I, Xiao Q, Fernandez AF, Fraga MF, Gut M, Gut I, Teixidó C, Vilariño N, Prat A, Reguart N, Benito A, Garrido P, Barragan I, Emile JF, Rosell R, Brambilla E, Esteller M.

Lancet Respir Med. 2018 Oct;6(10):771-781. doi: 10.1016/S2213-2600(18)30284-4. Epub 2018 Aug 9.

10.

Multi-omics profiling reveals a distinctive epigenome signature for high-risk acute promyelocytic leukemia.

Singh AA, Petraglia F, Nebbioso A, Yi G, Conte M, Valente S, Mandoli A, Scisciola L, Lindeboom R, Kerstens H, Janssen-Megens EM, Pourfarzad F, Habibi E, Berentsen K, Kim B, Logie C, Heath S, Wierenga ATJ, Clarke L, Flicek P, Jansen JH, Kuijpers T, Yaspo ML, Valle VD, Bernard O, Gut I, Vellenga E, Stunnenberg HG, Mai A, Altucci L, Martens JHA.

Oncotarget. 2018 May 22;9(39):25647-25660. doi: 10.18632/oncotarget.25429. eCollection 2018 May 22.

11.

Combined HAT/EZH2 modulation leads to cancer-selective cell death.

Petraglia F, Singh AA, Carafa V, Nebbioso A, Conte M, Scisciola L, Valente S, Baldi A, Mandoli A, Petrizzi VB, Ingenito C, De Falco S, Cicatiello V, Apicella I, Janssen-Megens EM, Kim B, Yi G, Logie C, Heath S, Ruvo M, Wierenga ATJ, Flicek P, Yaspo ML, Della Valle V, Bernard O, Tomassi S, Novellino E, Feoli A, Sbardella G, Gut I, Vellenga E, Stunnenberg HG, Mai A, Martens JHA, Altucci L.

Oncotarget. 2018 May 22;9(39):25630-25646. doi: 10.18632/oncotarget.25428. eCollection 2018 May 22.

12.

Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.

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, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA.

Nat Neurosci. 2018 Aug;21(8):1139. doi: 10.1038/s41593-018-0170-9.

PMID:
29875394
13.

The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia.

Beekman R, Chapaprieta V, Russiñol N, Vilarrasa-Blasi R, Verdaguer-Dot N, Martens JHA, Duran-Ferrer M, Kulis M, Serra F, Javierre BM, Wingett SW, Clot G, Queirós AC, Castellano G, Blanc J, Gut M, Merkel A, Heath S, Vlasova A, Ullrich S, Palumbo E, Enjuanes A, Martín-García D, Beà S, Pinyol M, Aymerich M, Royo R, Puiggros M, Torrents D, Datta A, Lowy E, Kostadima M, Roller M, Clarke L, Flicek P, Agirre X, Prosper F, Baumann T, Delgado J, López-Guillermo A, Fraser P, Yaspo ML, Guigó R, Siebert R, Martí-Renom MA, Puente XS, López-Otín C, Gut I, Stunnenberg HG, Campo E, Martin-Subero JI.

Nat Med. 2018 Jun;24(6):868-880. doi: 10.1038/s41591-018-0028-4. Epub 2018 May 21.

14.

bigSCale: an analytical framework for big-scale single-cell data.

Iacono G, Mereu E, Guillaumet-Adkins A, Corominas R, Cuscó I, Rodríguez-Esteban G, Gut M, Pérez-Jurado LA, Gut I, Heyn H.

Genome Res. 2018 Jun;28(6):878-890. doi: 10.1101/gr.230771.117. Epub 2018 May 3.

15.

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

Owen D, Töpf A, Preethish-Kumar V, Lorenzoni PJ, Vroling B, Scola RH, Dias-Tosta E, Geraldo A, Polavarapu K, Nashi S, Cox D, Evangelista T, Dawson J, Thompson R, Senderek J, Laurie S, Beltran S, Gut M, Gut I, Nalini A, Lochmüller H.

Am J Med Genet A. 2018 Jul;176(7):1594-1601. doi: 10.1002/ajmg.a.38707. Epub 2018 Apr 28.

PMID:
29704306
16.

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.

Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium.

Eur J Hum Genet. 2018 Jun;26(6):778-785. doi: 10.1038/s41431-018-0115-5. Epub 2018 Feb 27.

17.

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

Vivanti A, Ozanne A, Grondin C, Saliou G, Quevarec L, Maurey H, Aubourg P, Benachi A, Gut M, Gut I, Martinovic J, Sénat MV, Tawk M, Melki J.

Brain. 2018 Apr 1;141(4):979-988. doi: 10.1093/brain/awy020.

PMID:
29444212
18.

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.

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, Keane TM, Zuber J, Adams DJ, Flint J, Honzik T, Gut M, Beltran S, Mechtler K, Sherr E, Kmoch S, Gut I, Keays DA.

Nat Neurosci. 2018 Feb;21(2):207-217. doi: 10.1038/s41593-017-0053-5. Epub 2018 Jan 8. Erratum in: Nat Neurosci. 2018 Aug;21(8):1139.

19.

Gene Expression Profiling Reveals Novel Candidate Markers of Ovarian Carcinoma Intraperitoneal Metastasis.

Elsnerova K, Bartakova A, Tihlarik J, Bouda J, Rob L, Skapa P, Hruda M, Gut I, Mohelnikova-Duchonova B, Soucek P, Vaclavikova R.

J Cancer. 2017 Oct 9;8(17):3598-3606. doi: 10.7150/jca.20766. eCollection 2017.

20.

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.

Abiusi E, D'Alessandro M, Dieterich K, Quevarec L, Turczynski S, Valfort AC, Mezin P, Jouk PS, Gut M, Gut I, Bessereau JL, Melki J.

Hum Mol Genet. 2017 Oct 15;26(20):3989-3994. doi: 10.1093/hmg/ddx288.

PMID:
29016857

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