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Items: 1 to 50 of 53

1.

Detection of TP53 Mutations in Tissue or Liquid Rebiopsies at Progression Identifies ALK+ Lung Cancer Patients with Poor Survival.

Christopoulos P, Dietz S, Kirchner M, Volckmar AL, Endris V, Neumann O, Ogrodnik S, Heussel CP, Herth FJ, Eichhorn M, Meister M, Budczies J, Allgäuer M, Leichsenring J, Zemojtel T, Bischoff H, Schirmacher P, Thomas M, Sültmann H, Stenzinger A.

Cancers (Basel). 2019 Jan 21;11(1). pii: E124. doi: 10.3390/cancers11010124.

2.

Genomic landscape and clonal evolution of acute myeloid leukemia with t(8;21): an international study on 331 patients.

Christen F, Hoyer K, Yoshida K, Hou HA, Waldhueter N, Heuser M, Hills RK, Chan W, Hablesreiter R, Blau O, Ochi Y, Klement P, Chou WC, Blau IW, Tang JL, Zemojtel T, Shiraishi Y, Shiozawa Y, Thol F, Ganser A, Löwenberg B, Linch DC, Bullinger L, Valk PJM, Tien HF, Gale RE, Ogawa S, Damm F.

Blood. 2019 Mar 7;133(10):1140-1151. doi: 10.1182/blood-2018-05-852822. Epub 2019 Jan 4.

PMID:
30610028
3.

Role of Donor Clonal Hematopoiesis in Allogeneic Hematopoietic Stem-Cell Transplantation.

Frick M, Chan W, Arends CM, Hablesreiter R, Halik A, Heuser M, Michonneau D, Blau O, Hoyer K, Christen F, Galan-Sousa J, Noerenberg D, Wais V, Stadler M, Yoshida K, Schetelig J, Schuler E, Thol F, Clappier E, Christopeit M, Ayuk F, Bornhäuser M, Blau IW, Ogawa S, Zemojtel T, Gerbitz A, Wagner EM, Spriewald BM, Schrezenmeier H, Kuchenbauer F, Kobbe G, Wiesneth M, Koldehoff M, Socié G, Kroeger N, Bullinger L, Thiede C, Damm F.

J Clin Oncol. 2019 Feb 10;37(5):375-385. doi: 10.1200/JCO.2018.79.2184. Epub 2018 Nov 7.

PMID:
30403573
4.

Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis.

Arends CM, Galan-Sousa J, Hoyer K, Chan W, Jäger M, Yoshida K, Seemann R, Noerenberg D, Waldhueter N, Fleischer-Notter H, Christen F, Schmitt CA, Dörken B, Pelzer U, Sinn M, Zemojtel T, Ogawa S, Märdian S, Schreiber A, Kunitz A, Krüger U, Bullinger L, Mylonas E, Frick M, Damm F.

Leukemia. 2018 Sep;32(9):1908-1919. doi: 10.1038/s41375-018-0047-7. Epub 2018 Mar 1.

PMID:
29491455
5.

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.

Matuszewska KE, Badura-Stronka M, Śmigiel R, Cabała M, Biernacka A, Kosinska J, Rydzanicz M, Winczewska-Wiktor A, Sasiadek M, Latos-Bieleńska A, Żemojtel T, Płoski R.

Clin Dysmorphol. 2018 Apr;27(2):49-52. doi: 10.1097/MCD.0000000000000212. No abstract available.

PMID:
29389715
6.

Ocular findings in Loeys-Dietz syndrome.

Busch C, Voitl R, Goergen B, Zemojtel T, Gehle P, Salchow DJ.

Br J Ophthalmol. 2018 Aug;102(8):1036-1040. doi: 10.1136/bjophthalmol-2017-311254. Epub 2017 Nov 16.

PMID:
29146755
7.

Mutations in proteasome-related genes are associated with thyroid hemiagenesis.

Budny B, Szczepanek-Parulska E, Zemojtel T, Szaflarski W, Rydzanicz M, Wesoly J, Handschuh L, Wolinski K, Piatek K, Niedziela M, Ziemnicka K, Figlerowicz M, Zabel M, Ruchala M.

Endocrine. 2017 May;56(2):279-285. doi: 10.1007/s12020-017-1287-4. Epub 2017 Apr 7.

8.

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.

Trubicka J, Żemojtel T, Hecht J, Falana K, Piekutowska-Abramczuk D, Płoski R, Perek-Polnik M, Drogosiewicz M, Grajkowska W, Ciara E, Moszczyńska E, Dembowska-Bagińska B, Perek D, Chrzanowska KH, Krajewska-Walasek M, Łastowska M.

BMC Cancer. 2017 Apr 4;17(1):239. doi: 10.1186/s12885-017-3211-y.

9.

Alternate-locus aware variant calling in whole genome sequencing.

Jäger M, Schubach M, Zemojtel T, Reinert K, Church DM, Robinson PN.

Genome Med. 2016 Dec 13;8(1):130.

10.

L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes.

Penzkofer T, Jäger M, Figlerowicz M, Badge R, Mundlos S, Robinson PN, Zemojtel T.

Nucleic Acids Res. 2017 Jan 4;45(D1):D68-D73. doi: 10.1093/nar/gkw925. Epub 2016 Oct 18.

11.

The Human Phenotype Ontology in 2017.

Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN.

Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Review.

12.

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.

Grenkowitz T, Kassner U, Wühle-Demuth M, Salewsky B, Rosada A, Zemojtel T, Hopfenmüller W, Isermann B, Borucki K, Heigl F, Laufs U, Wagner S, Kleber ME, Binner P, März W, Steinhagen-Thiessen E, Demuth I.

Atherosclerosis. 2016 Oct;253:88-93. doi: 10.1016/j.atherosclerosis.2016.08.037. Epub 2016 Aug 26.

PMID:
27596133
13.

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.

Smedley D, Schubach M, Jacobsen JOB, Köhler S, Zemojtel T, Spielmann M, Jäger M, Hochheiser H, Washington NL, McMurry JA, Haendel MA, Mungall CJ, Lewis SE, Groza T, Valentini G, Robinson PN.

Am J Hum Genet. 2016 Sep 1;99(3):595-606. doi: 10.1016/j.ajhg.2016.07.005. Epub 2016 Aug 25.

14.

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

Horn D, Weschke B, Knierim E, Fischer-Zirnsak B, Stenzel W, Schuelke M, Zemojtel T.

Am J Med Genet A. 2016 Sep;170(9):2274-81. doi: 10.1002/ajmg.a.37798. Epub 2016 Jun 9. Review.

PMID:
27282648
15.

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.

Olech EM, Zemojtel T, Sowińska-Seidler A, Mundlos S, Robinson PN, Karczewski M, Jamsheer A.

Pol J Pathol. 2016 Mar;67(1):78-83.

16.

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Jamsheer A, Olech EM, Kozłowski K, Niedziela M, Sowińska-Seidler A, Obara-Moszyńska M, Latos-Bieleńska A, Karczewski M, Zemojtel T.

J Hum Genet. 2016 Jul;61(7):577-83. doi: 10.1038/jhg.2016.30. Epub 2016 Mar 31.

PMID:
27030147
17.

Next-generation diagnostics and disease-gene discovery with the Exomiser.

Smedley D, Jacobsen JO, Jäger M, Köhler S, Holtgrewe M, Schubach M, Siragusa E, Zemojtel T, Buske OJ, Washington NL, Bone WP, Haendel MA, Robinson PN.

Nat Protoc. 2015 Dec;10(12):2004-15. doi: 10.1038/nprot.2015.124. Epub 2015 Nov 12.

18.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U.

Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27.

19.

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

Groza T, Köhler S, Moldenhauer D, Vasilevsky N, Baynam G, Zemojtel T, Schriml LM, Kibbe WA, Schofield PN, Beck T, Vasant D, Brookes AJ, Zankl A, Washington NL, Mungall CJ, Lewis SE, Haendel MA, Parkinson H, Robinson PN.

Am J Hum Genet. 2015 Jul 2;97(1):111-24. doi: 10.1016/j.ajhg.2015.05.020. Epub 2015 Jun 25.

20.

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

Flöttmann R, Knaus A, Zemojtel T, Robinson PN, Mundlos S, Horn D, Spielmann M.

Eur J Med Genet. 2015 Aug;58(8):376-80. doi: 10.1016/j.ejmg.2015.05.007. Epub 2015 Jun 19.

PMID:
26096994
21.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM.

Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3.

22.

Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype.

Kagawa T, Oka A, Kobayashi Y, Hiasa Y, Kitamura T, Sakugawa H, Adachi Y, Anzai K, Tsuruya K, Arase Y, Hirose S, Shiraishi K, Shiina T, Sato T, Wang T, Tanaka M, Hayashi H, Kawabe N, Robinson PN, Zemojtel T, Mine T.

Hum Mutat. 2015 Mar;36(3):327-32. doi: 10.1002/humu.22745.

PMID:
25546334
23.

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

Emmerich D, Zemojtel T, Hecht J, Krawitz P, Spielmann M, Kühnisch J, Kobus K, Osswald M, Heinrich V, Berlien P, Müller U, Mautner VF, Wimmer K, Robinson PN, Vingron M, Tinschert S, Mundlos S, Kolanczyk M.

Eur J Hum Genet. 2015 Jun;23(6):870-3. doi: 10.1038/ejhg.2014.210. Epub 2014 Oct 8.

24.

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, Oien NC, Schweiger MR, Krüger U, Frommer G, Fischer B, Kornak U, Flöttmann R, Ardeshirdavani A, Moreau Y, Lewis SE, Haendel M, Smedley D, Horn D, Mundlos S, Robinson PN.

Sci Transl Med. 2014 Sep 3;6(252):252ra123. doi: 10.1126/scitranslmed.3009262.

25.

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.

Smedley D, Köhler S, Czeschik JC, Amberger J, Bocchini C, Hamosh A, Veldboer J, Zemojtel T, Robinson PN.

Bioinformatics. 2014 Nov 15;30(22):3215-22. doi: 10.1093/bioinformatics/btu508. Epub 2014 Jul 30.

26.

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.

Jamsheer A, Smigiel R, Jakubiak A, Zemojtel T, Socha M, Robinson PN, Mundlos S.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):314-8. doi: 10.1002/bdra.23239. Epub 2014 Apr 7.

PMID:
24706454
27.

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.

Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, Hecht J, Krawitz P, Doelken SC, Glazar R, Socha M, Mundlos S.

J Med Genet. 2013 Sep;50(9):579-84. doi: 10.1136/jmedgenet-2013-101659. Epub 2013 May 24.

PMID:
23709756
28.

P53 binding sites in transposons.

Zemojtel T, Vingron M.

Front Genet. 2012 Mar 20;3:40. doi: 10.3389/fgene.2012.00040. eCollection 2012. No abstract available.

29.

Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads.

Sun R, Love MI, Zemojtel T, Emde AK, Chung HR, Vingron M, Haas SA.

Bioinformatics. 2012 Apr 1;28(7):1024-5. doi: 10.1093/bioinformatics/bts064. Epub 2012 Feb 1.

PMID:
22302574
30.

CpG deamination creates transcription factor-binding sites with high efficiency.

Zemojtel T, Kielbasa SM, Arndt PF, Behrens S, Bourque G, Vingron M.

Genome Biol Evol. 2011;3:1304-11. doi: 10.1093/gbe/evr107. Epub 2011 Oct 19.

31.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH.

Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.

PMID:
21937992
32.

MIA is a potential biomarker for tumour load in neurofibromatosis type 1.

Kolanczyk M, Mautner V, Kossler N, Nguyen R, Kühnisch J, Zemojtel T, Jamsheer A, Wegener E, Thurisch B, Tinschert S, Holtkamp N, Park SJ, Birch P, Kendler D, Harder A, Mundlos S, Kluwe L.

BMC Med. 2011 Jul 4;9:82. doi: 10.1186/1741-7015-9-82.

33.

Genome-wide comparison of cyanobacterial transposable elements, potential genetic diversity indicators.

Lin S, Haas S, Zemojtel T, Xiao P, Vingron M, Li R.

Gene. 2011 Mar 1;473(2):139-49. doi: 10.1016/j.gene.2010.11.011. Epub 2010 Dec 13.

PMID:
21156198
34.

NOA1 is an essential GTPase required for mitochondrial protein synthesis.

Kolanczyk M, Pech M, Zemojtel T, Yamamoto H, Mikula I, Calvaruso MA, van den Brand M, Richter R, Fischer B, Ritz A, Kossler N, Thurisch B, Spoerle R, Smeitink J, Kornak U, Chan D, Vingron M, Martasek P, Lightowlers RN, Nijtmans L, Schuelke M, Nierhaus KH, Mundlos S.

Mol Biol Cell. 2011 Jan 1;22(1):1-11. doi: 10.1091/mbc.E10-07-0643. Epub 2010 Nov 30.

35.

Retrotransposition and mutation events yield Rap1 GTPases with differential signalling capacity.

Zemojtel T, Duchniewicz M, Zhang Z, Paluch T, Luz H, Penzkofer T, Scheele JS, Zwartkruis FJ.

BMC Evol Biol. 2010 Feb 19;10:55. doi: 10.1186/1471-2148-10-55.

36.

The Spt-Ada-Gcn5-acetyltransferase complex interaction motif of E2a is essential for a subset of transcriptional and oncogenic properties of E2a-Pbx1.

Scheele JS, Kolanczyk M, Gantert M, Zemojtel T, Dorn A, Sykes DB, Möbest DC, Kamps MP, Räpple D.

Leuk Lymphoma. 2009 May;50(5):816-28. doi: 10.1080/10428190902836107. Erratum in: Leuk Lymphoma. 2009 Jul;50(7):1235. Duchniewicz, Marlena [removed]. Leuk Lymphoma. 2009 Nov;50(11):1904. Sykes, David P [corrected to Sykes, David B].

PMID:
19399691
37.

Systems-level evidence of transcriptional co-regulation of yeast protein complexes.

Lee JW, Zemojtel T, Shakhnovich E.

J Comput Biol. 2009 Feb;16(2):331-9. doi: 10.1089/cmb.2008.17TT.

PMID:
19193150
38.

PBX1 is dispensable for neural commitment of RA-treated murine ES cells.

Jürgens AS, Kolanczyk M, Moebest DC, Zemojtel T, Lichtenauer U, Duchniewicz M, Gantert MP, Hecht J, Hattenhorst U, Burdach S, Dorn A, Kamps MP, Beuschlein F, Räpple D, Scheele JS.

In Vitro Cell Dev Biol Anim. 2009 May-Jun;45(5-6):252-63. doi: 10.1007/s11626-008-9162-5. Epub 2009 Jan 16.

39.

Methylation and deamination of CpGs generate p53-binding sites on a genomic scale.

Zemojtel T, Kielbasa SM, Arndt PF, Chung HR, Vingron M.

Trends Genet. 2009 Feb;25(2):63-6. doi: 10.1016/j.tig.2008.11.005. Epub 2008 Dec 26.

PMID:
19101055
40.
41.

Exonization of active mouse L1s: a driver of transcriptome evolution?

Zemojtel T, Penzkofer T, Schultz J, Dandekar T, Badge R, Vingron M.

BMC Genomics. 2007 Oct 26;8:392.

42.

Pre-B-cell transcription factor 1 and steroidogenic factor 1 synergistically regulate adrenocortical growth and steroidogenesis.

Lichtenauer UD, Duchniewicz M, Kolanczyk M, Hoeflich A, Hahner S, Else T, Bicknell AB, Zemojtel T, Stallings NR, Schulte DM, Kamps MP, Hammer GD, Scheele JS, Beuschlein F.

Endocrinology. 2007 Feb;148(2):693-704. Epub 2006 Nov 2.

PMID:
17082260
43.

Plant nitric oxide synthase: a never-ending story?

Zemojtel T, Fröhlich A, Palmieri MC, Kolanczyk M, Mikula I, Wyrwicz LS, Wanker EE, Mundlos S, Vingron M, Martasek P, Durner J.

Trends Plant Sci. 2006 Nov;11(11):524-5; author reply 526-8. Epub 2006 Oct 9. No abstract available.

PMID:
17030145
44.

Rap1A-deficient T and B cells show impaired integrin-mediated cell adhesion.

Duchniewicz M, Zemojtel T, Kolanczyk M, Grossmann S, Scheele JS, Zwartkruis FJ.

Mol Cell Biol. 2006 Jan;26(2):643-53.

45.

Mammalian mitochondrial nitric oxide synthase: characterization of a novel candidate.

Zemojtel T, Kolanczyk M, Kossler N, Stricker S, Lurz R, Mikula I, Duchniewicz M, Schuelke M, Ghafourifar P, Martasek P, Vingron M, Mundlos S.

FEBS Lett. 2006 Jan 23;580(2):455-62. Epub 2005 Dec 20. Erratum in: FEBS Lett. 2007 May 15;581(10):2072-3.

46.

HRap1B-retro: a novel human processed rap1B gene blurs the picture?

Zemojtel T, Penzkofer T, Duchniewicz M, Zwartkruis FJ.

Leukemia. 2006 Jan;20(1):145-6; author reply 146-7. No abstract available.

PMID:
16307016
47.

L1Base: from functional annotation to prediction of active LINE-1 elements.

Penzkofer T, Dandekar T, Zemojtel T.

Nucleic Acids Res. 2005 Jan 1;33(Database issue):D498-500.

48.

ECEPE proteins: a novel family of eukaryotic cysteine proteinases.

Ginalski K, Zemojtel T.

Trends Biochem Sci. 2004 Oct;29(10):524-6.

PMID:
15450606
49.

A novel conserved family of nitric oxide synthase?

Zemojtel T, Penzkofer T, Dandekar T, Schultz J.

Trends Biochem Sci. 2004 May;29(5):224-6. No abstract available.

PMID:
15130557
50.

NO-bound myoglobin: structural diversity and dynamics of the NO ligand.

Zemojtel T, Rini M, Heyne K, Dandekar T, Nibbering ET, Kozlowski PM.

J Am Chem Soc. 2004 Feb 25;126(7):1930-1.

PMID:
14971914

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