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Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.

Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schröck E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C.

BMC Cancer. 2019 Aug 8;19(1):787. doi: 10.1186/s12885-019-5946-0.


A Rash in a Hairy Situation: Leukocytoclastic Vasculitis at Presentation of Hairy Cell Leukemia.

Moyers JT, Liu LW, Ossowski S, Goddard L, Kamal MO, Cao H.

Am J Hematol. 2019 Jul 30. doi: 10.1002/ajh.25597. [Epub ahead of print] No abstract available.


Radiogenomics in head and neck cancer: correlation of radiomic heterogeneity and somatic mutations in TP53, FAT1 and KMT2D.

Zwirner K, Hilke FJ, Demidov G, Socarras Fernandez J, Ossowski S, Gani C, Thorwarth D, Riess O, Zips D, Schroeder C, Welz S.

Strahlenther Onkol. 2019 May 23. doi: 10.1007/s00066-019-01478-x. [Epub ahead of print]


eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.

Bosio M, Drechsel O, Rahman R, Muyas F, Rabionet R, Bezdan D, Domenech Salgado L, Hor H, Schott JJ, Munell F, Colobran R, Macaya A, Estivill X, Ossowski S.

Hum Mutat. 2019 Jul;40(7):865-878. doi: 10.1002/humu.23772. Epub 2019 May 21.


Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.

Rabionet R, Remesal A, Mensa-Vilaró A, Murías S, Alcobendas R, González-Roca E, Ruiz-Ortiz E, Antón J, Iglesias E, Modesto C, Comas D, Puig A, Drechsel O, Ossowski S, Yagüe J, Merino R, Estivill X, Arostegui JI.

Sci Rep. 2019 Mar 14;9(1):4579. doi: 10.1038/s41598-019-40874-2.


LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.

Soler-Palacín P, Garcia-Prat M, Martín-Nalda A, Franco-Jarava C, Rivière JG, Plaja A, Bezdan D, Bosio M, Martínez-Gallo M, Ossowski S, Colobran R.

Front Immunol. 2018 Oct 16;9:2397. doi: 10.3389/fimmu.2018.02397. eCollection 2018.


Allele balance bias identifies systematic genotyping errors and false disease associations.

Muyas F, Bosio M, Puig A, Susak H, Domènech L, Escaramis G, Zapata L, Demidov G, Estivill X, Rabionet R, Ossowski S.

Hum Mutat. 2019 Jan;40(1):115-126. doi: 10.1002/humu.23674. Epub 2018 Nov 23.


Circulating cell-free DNA: A potential biomarker to differentiate inflammation and infection during radiochemotherapy.

Zwirner K, Hilke FJ, Demidov G, Ossowski S, Gani C, Rieß O, Zips D, Welz S, Schroeder C.

Radiother Oncol. 2018 Dec;129(3):575-581. doi: 10.1016/j.radonc.2018.07.016. Epub 2018 Aug 7.


Tissue-specific DNA methylation loss during ageing and carcinogenesis is linked to chromosome structure, replication timing and cell division rates.

Dmitrijeva M, Ossowski S, Serrano L, Schaefer MH.

Nucleic Acids Res. 2018 Aug 21;46(14):7022-7039. doi: 10.1093/nar/gky498.


Negative selection in tumor genome evolution acts on essential cellular functions and the immunopeptidome.

Zapata L, Pich O, Serrano L, Kondrashov FA, Ossowski S, Schaefer MH.

Genome Biol. 2018 May 31;19(1):67. doi: 10.1186/s13059-018-1434-0.


Whole-genome sequencing enabling the detection of a colistin-resistant hypermutating Citrobacter werkmanii strain harbouring a novel metallo-β-lactamase VIM-48.

Peter S, Bezdan D, Oberhettinger P, Vogel W, Dörfel D, Dick J, Marschal M, Liese J, Weidenmaier C, Autenrieth I, Ossowski S, Willmann M.

Int J Antimicrob Agents. 2018 Jun;51(6):867-874. doi: 10.1016/j.ijantimicag.2018.01.015. Epub 2018 May 22.


Genomic characterisation of clinical and environmental Pseudomonas putida group strains and determination of their role in the transfer of antimicrobial resistance genes to Pseudomonas aeruginosa.

Peter S, Oberhettinger P, Schuele L, Dinkelacker A, Vogel W, Dörfel D, Bezdan D, Ossowski S, Marschal M, Liese J, Willmann M.

BMC Genomics. 2017 Nov 10;18(1):859. doi: 10.1186/s12864-017-4216-2.


Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes.

Zapata L, Susak H, Drechsel O, Friedländer MR, Estivill X, Ossowski S.

Sci Rep. 2017 Oct 13;7(1):13124. doi: 10.1038/s41598-017-12888-1.


Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R.

Hum Mutat. 2017 Nov;38(11):1477-1484. doi: 10.1002/humu.23297. Epub 2017 Aug 17.


A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S.

Sci Rep. 2017 Mar 10;7:44138. doi: 10.1038/srep44138.


Does Hospitalist Directed Care for Acute Ischemic Stroke Patients Improve Adherence to "Get with the Guidelines"?

Hassan AE, Ossowski SE, Malik AA, Sanchez C, Abantao E, Sanchez O, Tekle WG, Qureshi AI.

J Vasc Interv Neurol. 2016 Oct;9(2):30-33.


Spinal Cord Transcriptomic and Metabolomic Analysis after Excitotoxic Injection Injury Model of Syringomyelia.

Mohrman AE, Farrag M, Huang H, Ossowski S, Haft S, Shriver LP, Leipzig ND.

J Neurotrauma. 2017 Feb;34(3):720-733. doi: 10.1089/neu.2015.4341. Epub 2016 Oct 13.


Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders.

De Toma I, Manubens-Gil L, Ossowski S, Dierssen M.

Neural Plast. 2016;2016:4235898. doi: 10.1155/2016/4235898. Epub 2016 Jul 28. Review.


Chromosome-level assembly of Arabidopsis thaliana Ler reveals the extent of translocation and inversion polymorphisms.

Zapata L, Ding J, Willing EM, Hartwig B, Bezdan D, Jiao WB, Patel V, Velikkakam James G, Koornneef M, Ossowski S, Schneeberger K.

Proc Natl Acad Sci U S A. 2016 Jul 12;113(28):E4052-60. doi: 10.1073/pnas.1607532113. Epub 2016 Jun 27.


Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome.

Prasad A, Rabionet R, Espinet B, Zapata L, Puiggros A, Melero C, Puig A, Sarria-Trujillo Y, Ossowski S, Garcia-Muret MP, Estrach T, Servitje O, Lopez-Lerma I, Gallardo F, Pujol RM, Estivill X.

J Invest Dermatol. 2016 Jul;136(7):1490-1499. doi: 10.1016/j.jid.2016.03.024. Epub 2016 Mar 30.


A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.

Bahamonde MI, Serra SA, Drechsel O, Rahman R, Marcé-Grau A, Prieto M, Ossowski S, Macaya A, Fernández-Fernández JM.

PLoS One. 2015 Dec 30;10(12):e0146035. doi: 10.1371/journal.pone.0146035. eCollection 2015.


The cis-regulatory code of Hox function in Drosophila.

Sorge S, Ha N, Polychronidou M, Friedrich J, Bezdan D, Kaspar P, Schaefer MH, Ossowski S, Henz SR, Mundorf J, Rätzer J, Papagiannouli F, Lohmann I.

EMBO J. 2015 Nov 12;34(22):2862. doi: 10.15252/embj.201593321. No abstract available.


Jitterbug: somatic and germline transposon insertion detection at single-nucleotide resolution.

Hénaff E, Zapata L, Casacuberta JM, Ossowski S.

BMC Genomics. 2015 Oct 12;16:768. doi: 10.1186/s12864-015-1975-5.


Mutations in DCHS1 cause mitral valve prolapse.

Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA.

Nature. 2015 Sep 3;525(7567):109-13. doi: 10.1038/nature14670. Epub 2015 Aug 10.


Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Hor H, Francescatto L, Bartesaghi L, Ortega-Cubero S, Kousi M, Lorenzo-Betancor O, Jiménez-Jiménez FJ, Gironell A, Clarimón J, Drechsel O, Agúndez JA, Kenzelmann Broz D, Chiquet-Ehrismann R, Lleó A, Coria F, García-Martin E, Alonso-Navarro H, Martí MJ, Kulisevsky J, Hor CN, Ossowski S, Chrast R, Katsanis N, Pastor P, Estivill X.

Hum Mol Genet. 2015 Oct 15;24(20):5677-86. doi: 10.1093/hmg/ddv281. Epub 2015 Jul 17.


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 abstract available.


Chromatin-wide profiling of DYRK1A reveals a role as a gene-specific RNA polymerase II CTD kinase.

Di Vona C, Bezdan D, Islam AB, Salichs E, López-Bigas N, Ossowski S, de la Luna S.

Mol Cell. 2015 Feb 5;57(3):506-20. doi: 10.1016/j.molcel.2014.12.026. Epub 2015 Jan 22.


Analysis of a long-term outbreak of XDR Pseudomonas aeruginosa: a molecular epidemiological study.

Willmann M, Bezdan D, Zapata L, Susak H, Vogel W, Schröppel K, Liese J, Weidenmaier C, Autenrieth IB, Ossowski S, Peter S.

J Antimicrob Chemother. 2015 May;70(5):1322-30. doi: 10.1093/jac/dku546. Epub 2015 Jan 11.


Species-wide genetic incompatibility analysis identifies immune genes as hot spots of deleterious epistasis.

Chae E, Bomblies K, Kim ST, Karelina D, Zaidem M, Ossowski S, Martín-Pizarro C, Laitinen RA, Rowan BA, Tenenboim H, Lechner S, Demar M, Habring-Müller A, Lanz C, Rätsch G, Weigel D.

Cell. 2014 Dec 4;159(6):1341-51. doi: 10.1016/j.cell.2014.10.049. Epub 2014 Nov 20.


Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.

Bullich G, Trujillano D, Santín S, Ossowski S, Mendizábal S, Fraga G, Madrid Á, Ariceta G, Ballarín J, Torra R, Estivill X, Ars E.

Eur J Hum Genet. 2015 Sep;23(9):1192-9. doi: 10.1038/ejhg.2014.252. Epub 2014 Nov 19.


Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Trujillano D, Bullich G, Ossowski S, Ballarín J, Torra R, Estivill X, Ars E.

Mol Genet Genomic Med. 2014 Sep;2(5):412-21. doi: 10.1002/mgg3.82. Epub 2014 May 23.


Relationship between genome and epigenome--challenges and requirements for future research.

Almouzni G, Altucci L, Amati B, Ashley N, Baulcombe D, Beaujean N, Bock C, Bongcam-Rudloff E, Bousquet J, Braun S, Bressac-de Paillerets B, Bussemakers M, Clarke L, Conesa A, Estivill X, Fazeli A, Grgurević N, Gut I, Heijmans BT, Hermouet S, Houwing-Duistermaat J, Iacobucci I, Ilaš J, Kandimalla R, Krauss-Etschmann S, Lasko P, Lehmann S, Lindroth A, Majdič G, Marcotte E, Martinelli G, Martinet N, Meyer E, Miceli C, Mills K, Moreno-Villanueva M, Morvan G, Nickel D, Niesler B, Nowacki M, Nowak J, Ossowski S, Pelizzola M, Pochet R, Potočnik U, Radwanska M, Raes J, Rattray M, Robinson MD, Roelen B, Sauer S, Schinzer D, Slagboom E, Spector T, Stunnenberg HG, Tiligada E, Torres-Padilla ME, Tsonaka R, Van Soom A, Vidaković M, Widschwendter M.

BMC Genomics. 2014 Jun 18;15:487. doi: 10.1186/1471-2164-15-487.


A shift from magnitude to sign epistasis during adaptive evolution of a bacterial social trait.

Zee PC, Mendes-Soares H, Yu YT, Kraemer SA, Keller H, Ossowski S, Schneeberger K, Velicer GJ.

Evolution. 2014 Sep;68(9):2701-8. doi: 10.1111/evo.12467. Epub 2014 Jul 15.


The genomic landscape of meiotic crossovers and gene conversions in Arabidopsis thaliana.

Wijnker E, Velikkakam James G, Ding J, Becker F, Klasen JR, Rawat V, Rowan BA, de Jong DF, de Snoo CB, Zapata L, Huettel B, de Jong H, Ossowski S, Weigel D, Koornneef M, Keurentjes JJ, Schneeberger K.

Elife. 2013 Dec 17;2:e01426. doi: 10.7554/eLife.01426.


A genomic-scale artificial microRNA library as a tool to investigate the functionally redundant gene space in Arabidopsis.

Hauser F, Chen W, Deinlein U, Chang K, Ossowski S, Fitz J, Hannon GJ, Schroeder JI.

Plant Cell. 2013 Aug;25(8):2848-63. doi: 10.1105/tpc.113.112805. Epub 2013 Aug 16.


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.


Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.

Ramos MD, Trujillano D, Olivar R, Sotillo F, Ossowski S, Manzanares J, Costa J, Gartner S, Oliva C, Quintana E, Gonzalez MI, Vazquez C, Estivill X, Casals T.

Clin Genet. 2014 Jul;86(1):91-5. doi: 10.1111/cge.12234. Epub 2013 Jul 28.


Comparative transcriptomics reveals patterns of selection in domesticated and wild tomato.

Koenig D, Jiménez-Gómez JM, Kimura S, Fulop D, Chitwood DH, Headland LR, Kumar R, Covington MF, Devisetty UK, Tat AV, Tohge T, Bolger A, Schneeberger K, Ossowski S, Lanz C, Xiong G, Taylor-Teeples M, Brady SM, Pauly M, Weigel D, Usadel B, Fernie AR, Peng J, Sinha NR, Maloof JN.

Proc Natl Acad Sci U S A. 2013 Jul 9;110(28):E2655-62. doi: 10.1073/pnas.1309606110. Epub 2013 Jun 26.


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.


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.


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. 2013 Dec;27(12):2376-9. doi: 10.1038/leu.2013.127. Epub 2013 Apr 24. No abstract available. Erratum in: Leukemia. 2015 Mar;29(3):758.


Artificial microRNAs for specific gene silencing in rice.

Warthmann N, Ossowski S, Schwab R, Weigel D.

Methods Mol Biol. 2013;956:131-49. doi: 10.1007/978-1-62703-194-3_11.


Complementation contributes to transcriptome complexity in maize (Zea mays L.) hybrids relative to their inbred parents.

Paschold A, Jia Y, Marcon C, Lund S, Larson NB, Yeh CT, Ossowski S, Lanz C, Nettleton D, Schnable PS, Hochholdinger F.

Genome Res. 2012 Dec;22(12):2445-54. doi: 10.1101/gr.138461.112. Epub 2012 Oct 19.


Impaired sterol ester synthesis alters the response of Arabidopsis thaliana to Phytophthora infestans.

Kopischke M, Westphal L, Schneeberger K, Clark R, Ossowski S, Wewer V, Fuchs R, Landtag J, Hause G, Dörmann P, Lipka V, Weigel D, Schulze-Lefert P, Scheel D, Rosahl S.

Plant J. 2013 Feb;73(3):456-68. doi: 10.1111/tpj.12046. Epub 2012 Dec 12.


Aggregation behavior of bovine κ- and β-casein studied with small angle neutron scattering, light scattering, and cryogenic transmission electron microscopy.

Ossowski S, Jackson A, Obiols-Rabasa M, Holt C, Lenton S, Porcar L, Paulsson M, Nylander T.

Langmuir. 2012 Sep 25;28(38):13577-89. Epub 2012 Sep 13.


The cis-regulatory code of Hox function in Drosophila.

Sorge S, Ha N, Polychronidou M, Friedrich J, Bezdan D, Kaspar P, Schaefer MH, Ossowski S, Henz SR, Mundorf J, Rätzer J, Papagiannouli F, Lohmann I.

EMBO J. 2012 Aug 1;31(15):3323-33. doi: 10.1038/emboj.2012.179. Epub 2012 Jul 10. Erratum in: EMBO J. 2015 Nov 12;34(22):2862.


Fitness of Arabidopsis thaliana mutation accumulation lines whose spontaneous mutations are known.

Rutter MT, Roles A, Conner JK, Shaw RG, Shaw FH, Schneeberger K, Ossowski S, Weigel D, Fenster CB.

Evolution. 2012 Jul;66(7):2335-9. doi: 10.1111/j.1558-5646.2012.01583.x. Epub 2012 Feb 21.


KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.

Louis-Dit-Picard H, Barc J, Trujillano D, Miserey-Lenkei S, Bouatia-Naji N, Pylypenko O, Beaurain G, Bonnefond A, Sand O, Simian C, Vidal-Petiot E, Soukaseum C, Mandet C, Broux F, Chabre O, Delahousse M, Esnault V, Fiquet B, Houillier P, Bagnis CI, Koenig J, Konrad M, Landais P, Mourani C, Niaudet P, Probst V, Thauvin C, Unwin RJ, Soroka SD, Ehret G, Ossowski S, Caulfield M; International Consortium for Blood Pressure (ICBP), Bruneval P, Estivill X, Froguel P, Hadchouel J, Schott JJ, Jeunemaitre X.

Nat Genet. 2012 Mar 11;44(4):456-60, S1-3. doi: 10.1038/ng.2218. Erratum in: Nat Genet. 2012;44(5):609.


Whole-genome sequencing of multiple Arabidopsis thaliana populations.

Cao J, Schneeberger K, Ossowski S, Günther T, Bender S, Fitz J, Koenig D, Lanz C, Stegle O, Lippert C, Wang X, Ott F, Müller J, Alonso-Blanco C, Borgwardt K, Schmid KJ, Weigel D.

Nat Genet. 2011 Aug 28;43(10):956-63. doi: 10.1038/ng.911.


LOCAS--a low coverage assembly tool for resequencing projects.

Klein JD, Ossowski S, Schneeberger K, Weigel D, Huson DH.

PLoS One. 2011;6(8):e23455. doi: 10.1371/journal.pone.0023455. Epub 2011 Aug 15.

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