|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|Clonal mutational landscape of childhood myelodysplastic syndromes|
EJ Kozyra, S Hirabayashi, VBP Loyola, B Przychodzen, A Karow, ...
Blood 126 (23), 1662, 2015
|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
|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
|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
|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
|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
|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
|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
|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