Myrto Kostadima
Myrto Kostadima
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Ensembl 2018
DR Zerbino, P Achuthan, W Akanni, MR Amode, D Barrell, J Bhai, K Billis, ...
Nucleic acids research 46 (D1), D754-D761, 2018
Lineage-specific genome architecture links enhancers and non-coding disease variants to target gene promoters
BM Javierre, OS Burren, SP Wilder, R Kreuzhuber, SM Hill, S Sewitz, ...
Cell 167 (5), 1369-1384. e19, 2016
The allelic landscape of human blood cell trait variation and links to common complex disease
WJ Astle, H Elding, T Jiang, D Allen, D Ruklisa, AL Mann, D Mead, ...
Cell 167 (5), 1415-1429. e19, 2016
Ensembl 2017
BL Aken, P Achuthan, W Akanni, MR Amode, F Bernsdorff, J Bhai, K Billis, ...
Nucleic acids research 45 (D1), D635-D642, 2017
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
CA Albers, DS Paul, H Schulze, K Freson, JC Stephens, PA Smethurst, ...
Nature genetics 44 (4), 435-439, 2012
Ensembl 2019
F Cunningham, P Achuthan, W Akanni, J Allen, MR Amode, IM Armean, ...
Nucleic acids research 47 (D1), D745-D751, 2019
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
CA Albers, A Cvejic, R Favier, EE Bouwmans, MC Alessi, P Bertone, ...
Nature genetics 43 (8), 735-737, 2011
The International Human Epigenome Consortium: a blueprint for scientific collaboration and discovery
HG Stunnenberg, S Abrignani, D Adams, M de Almeida, L Altucci, V Amin, ...
Cell 167 (5), 1145-1149, 2016
Transcriptional diversity during lineage commitment of human blood progenitors
L Chen, M Kostadima, JHA Martens, G Canu, SP Garcia, E Turro, ...
Science 345 (6204), 2014
Detection of atherosclerotic inflammation by 68Ga-DOTATATE PET compared to [18F] FDG PET imaging
JM Tarkin, FR Joshi, NR Evans, MM Chowdhury, NL Figg, AV Shah, ...
Journal of the American College of Cardiology 69 (14), 1774-1791, 2017
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
I Simeoni, JC Stephens, F Hu, SVV Deevi, K Megy, TK Bariana, ...
Blood, The Journal of the American Society of Hematology 127 (23), 2791-2803, 2016
SMIM1 underlies the Vel blood group and influences red blood cell traits
A Cvejic, L Haer-Wigman, JC Stephens, M Kostadima, PA Smethurst, ...
Nature genetics 45 (5), 542-545, 2013
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
S Stritt, P Nurden, E Turro, D Greene, SB Jansen, SK Westbury, ...
Blood 127 (23), 2903-2914, 2016
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
E Turro, D Greene, A Wijgaerts, C Thys, C Lentaigne, TK Bariana, ...
Science translational medicine 8 (328), 328ra30-328ra30, 2016
The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia
R Beekman, V Chapaprieta, N Russińol, R Vilarrasa-Blasi, ...
Nature medicine 24 (6), 868-880, 2018
Ensembl 2020
AD Yates, P Achuthan, W Akanni, J Allen, J Allen, J Alvarez-Jarreta, ...
Nucleic acids research 48 (D1), D682-D688, 2020
Platelet function is modified by common sequence variation in megakaryocyte super enhancers
R Petersen, JJ Lambourne, BM Javierre, L Grassi, R Kreuzhuber, ...
Nature communications 8 (1), 1-12, 2017
Dynamics of transcription regulation in human bone marrow myeloid differentiation to mature blood neutrophils
L Grassi, F Pourfarzad, S Ullrich, A Merkel, F Were, ...
Cell reports 24 (10), 2784-2794, 2018
Human gene correlation analysis (HGCA): a tool for the identification of transcriptionally co-expressed genes
I Michalopoulos, GA Pavlopoulos, A Malatras, A Karelas, MA Kostadima, ...
BMC research notes 5 (1), 1-11, 2012
Next-generation sequencing: a challenge to meet the increasing demand for training workshops in Australia
NS Watson-Haigh, CA Shang, M Haimel, M Kostadima, R Loos, ...
Briefings in bioinformatics 14 (5), 563-574, 2013
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Artikelen 1–20