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Victor Pastor
Victor Pastor
Bestätigte E-Mail-Adresse bei stjude.org
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Zitiert von
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Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents
MW Wlodarski, S Hirabayashi, V Pastor, J Starý, H Hasle, R Masetti, ...
Blood, The Journal of the American Society of Hematology 127 (11), 1387-1397, 2016
3052016
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7
VB Pastor, SS Sahoo, J Boklan, GC Schwabe, E Saribeyoglu, B Strahm, ...
haematologica 103 (3), 427, 2018
782018
Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants
V Pastor, S Hirabayashi, A Karow, J Wehrle, EJ Kozyra, R Nienhold, ...
Leukemia 31 (3), 759-762, 2017
542017
Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes
Y Nagata, S Narumi, Y Guan, BP Przychodzen, CM Hirsch, H Makishima, ...
Blood, The Journal of the American Society of Hematology 132 (21), 2309-2313, 2018
302018
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia
MW Wlodarski, L Da Costa, MF O’Donohue, M Gastou, N Karboul, ...
Haematologica 103 (6), 949, 2018
272018
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA SequencingComprehensive Clinical Sequencing in Pediatric Cancer
S Newman, J Nakitandwe, CA Kesserwan, EM Azzato, DA Wheeler, ...
Cancer discovery 11 (12), 3008-3027, 2021
252021
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency
EJ Kozyra, VB Pastor, S Lefkopoulos, SS Sahoo, H Busch, RK Voss, ...
Leukemia 34 (10), 2673-2687, 2020
242020
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes
SS Sahoo, VB Pastor, C Goodings, RK Voss, EJ Kozyra, A Szvetnik, ...
Nature Medicine 27 (10), 1806-1817, 2021
222021
Somatic genetic and epigenetic architecture of myelodysplastic syndromes arising from GATA2 deficiency
VB Pastor Loyola, S Hirabayashi, S Pohl, EJ Kozyra, A Catala, ...
Blood, The Journal of the American Society of Hematology 126 (23), 299-299, 2015
132015
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue
R Sharma, SS Sahoo, M Honda, SL Granger, C Goodings, L Sanchez, ...
Blood, The Journal of the American Society of Hematology 139 (7), 1039-1051, 2022
112022
Mutational spectrum of Fanconi anemia associated myeloid neoplasms
MM Chao, K Thomay, G Goehring, M Wlodarski, V Pastor, ...
Klinische Pädiatrie 229 (06), 329-334, 2017
82017
Clonal mutational landscape of childhood myelodysplastic syndromes
EJ Kozyra, S Hirabayashi, VBP Loyola, B Przychodzen, A Karow, ...
Blood 126 (23), 1662, 2015
62015
Diamond-Blackfan anemia phenotype caused by deficiency of adenosine deaminase 2
EA Szvetnik, C Klemann, I Hainmann, T Farkas, M Niewisch, R Grosse, ...
Blood 130, 874, 2017
42017
Impact of somatic mutations on the outcome of children and adolescents with therapy-related myelodysplastic syndrome
B Strahm, MW Wlodarski, VB Pastor, B Przychodzien, A Catala, ...
Blood 128 (22), 3162, 2016
42016
Germline SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes
Y Nagata, BP Przychodzen, CM Hirsch, H Makishima, VP Loyola, BK Jha, ...
Blood 130, 1670, 2017
32017
Association of unbalanced translocation der (1; 7) with germline GATA2 mutations
EJ Kozyra, G Göhring, DD Hickstein, KR Calvo, CD DiNardo, M Dworzak, ...
Blood, The Journal of the American Society of Hematology 138 (23), 2441-2445, 2021
22021
Monosomy 7 as the initial hit followed by sequential acquisition of SETBP1 and ASXL1 driver mutations in childhood myelodysplastic syndromes
VP Loyola, PK Panda, SS Sahoo, EA Szvetnik, EJ Kozyra, RK Voss, ...
Blood 132, 105, 2018
22018
Systematic assessment of GATA2 genetic variation reveals the presence of novel disease-causing synonymous exonic mutations
EJ Kozyra, V Pastor Loyola, C Wehr, SS Sahoo, R Voss, EA Szvetnik, ...
Blood, The Journal of the American Society of Hematology 130 (Suppl_1), 2449 …, 2017
22017
Constitutional SAMD9L mutations cause familial myelodisplastic syndrome with monosomy 7 and stable revertant mosaicism
VP Loyola, SS Sahoo, J Boklan, G Schwabe, B Strahm, D Lebrecht, ...
Blood 130, 1672, 2017
12017
Using FFPE tissue from non-mucinous epithelial ovarian cancer patients to detect germline variants
J Luis Villanueva-Canas, M Potrony, A Saco, R Isanta, V Lopez, V Pastor, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 419-419, 2022
2022
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