Tomasz Zemojtel
Tomasz Zemojtel
Head of Genomics Platform, Berlin Institute of Health, University Clinics Charite
Verifierad e-postadress på bihealth.de - Startsida
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Deep sequencing reveals 50 novel genes for recessive cognitive disorders
H Najmabadi, H Hu, M Garshasbi, T Zemojtel, SS Abedini, W Chen, ...
Nature 478 (7367), 57-63, 2011
7342011
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
3612017
Plant nitric oxide synthase: a never-ending story?
T Zemojtel, A Fröhlich, MC Palmieri, M Kolanczyk, I Mikula, LS Wyrwicz, ...
Trends in plant science 11 (11), 524-525, 2006
3482006
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Sci Transl Med. 6 (252), 252ra123, 2014
1902014
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM De Brouwer, ...
Molecular psychiatry 21 (1), 133-148, 2016
1762016
The human phenotype ontology in 2017
S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ...
1562017
The human phenotype ontology: semantic unification of common and rare disease
T Groza, S Köhler, D Moldenhauer, N Vasilevsky, G Baynam, T Zemojtel, ...
The American Journal of Human Genetics 97 (1), 111-124, 2015
1502015
Next-generation diagnostics and disease-gene discovery with the Exomiser
D Smedley, JOB Jacobsen, M Jäger, S Köhler, M Holtgrewe, M Schubach, ...
Nature protocols 10 (12), 2004-2015, 2015
1472015
A whole-genome analysis framework for effective identification of pathogenic regulatory variants in Mendelian disease
D Smedley, M Schubach, JOB Jacobsen, S Köhler, T Zemojtel, ...
The American Journal of Human Genetics 99 (3), 595-606, 2016
1352016
Rap1A-deficient T and B cells show impaired integrin-mediated cell adhesion
M Duchniewicz, T Zemojtel, M Kolanczyk, S Grossmann, JS Scheele, ...
Molecular and cellular biology 26 (2), 643-653, 2006
1342006
L1Base: from functional annotation to prediction of active LINE-1 elements
T Penzkofer, T Dandekar, T Zemojtel
Nucleic acids research 33 (suppl_1), D498-D500, 2005
1012005
Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases
D Smedley, S Köhler, JC Czeschik, J Amberger, C Bocchini, A Hamosh, ...
Bioinformatics 30 (22), 3215-3222, 2014
652014
Methylation and deamination of CpGs generate p53-binding sites on a genomic scale
T Zemojtel, SM Kielbasa, PF Arndt, HR Chung, M Vingron
Trends in genetics 25 (2), 63-66, 2009
622009
Pre-B-cell transcription factor 1 and steroidogenic factor 1 synergistically regulate adrenocortical growth and steroidogenesis
UD Lichtenauer, M Duchniewicz, M Kolanczyk, A Hoeflich, S Hahner, ...
Endocrinology 148 (2), 693-704, 2007
562007
Genome-wide comparison of cyanobacterial transposable elements, potential genetic diversity indicators
S Lin, S Haas, T Zemojtel, P Xiao, M Vingron, R Li
Nature Precedings, 1-1, 2010
522010
Role of donor clonal hematopoiesis in allogeneic hematopoietic stem-cell transplantation
M Frick, W Chan, CM Arends, R Hablesreiter, A Halik, M Heuser, ...
Journal of Clinical Oncology 37 (5), 375-385, 2019
512019
A novel conserved family of nitric oxide synthase?
T Zemojtel, T Penzkofer, T Dandekar, J Schultz
Trends in biochemical sciences 29 (5), 224-226, 2004
492004
Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis
CM Arends, J Galan-Sousa, K Hoyer, W Chan, M Jäger, K Yoshida, ...
Leukemia 32 (9), 1908-1919, 2018
472018
Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa
B Fischer-Zirnsak, N Escande-Beillard, J Ganesh, YX Tan, M Al Bughaili, ...
The American Journal of Human Genetics 97 (3), 483-492, 2015
472015
L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes
T Penzkofer, M Jäger, M Figlerowicz, R Badge, S Mundlos, PN Robinson, ...
Nucleic acids research, gkw925, 2016
452016
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Artiklar 1–20