| 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 | 305 | 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 | 78 | 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 | 54 | 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 | 30 | 2018 |
| 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 | 27 | 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 | 25 | 2021 |
| 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 | 24 | 2020 |
| 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 | 22 | 2021 |
| 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 | 13 | 2015 |
| 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 | 11 | 2022 |
| 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 | 8 | 2017 |
| Clonal mutational landscape of childhood myelodysplastic syndromes EJ Kozyra, S Hirabayashi, VBP Loyola, B Przychodzen, A Karow, ... Blood 126 (23), 1662, 2015 | 6 | 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 | 4 | 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 | 4 | 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 | 3 | 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 | 2 | 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 | 2 | 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 | 2 | 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 | 1 | 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 | | 2022 |
