关注
Simone Feurstein
Simone Feurstein
Physician Scientist
在 med.uni-heidelberg.de 的电子邮件经过验证
标题
引用次数
引用次数
年份
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
X Luo, S Feurstein, S Mohan, CC Porter, SA Jackson, S Keel, M Chicka, ...
Blood advances 3 (20), 2962-2979, 2019
1332019
Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies
MW Drazer, S Kadri, M Sukhanova, SA Patil, AH West, S Feurstein, ...
Blood advances 2 (2), 146-150, 2018
1082018
Germline ETV6 mutations and predisposition to hematological malignancies
S Feurstein, LA Godley
International journal of hematology 106, 189-195, 2017
862017
Genetic predisposition to leukemia and other hematologic malignancies
S Feurstein, MW Drazer, LA Godley
Seminars in Oncology 43 (5), 598-608, 2016
762016
Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages
S Feurstein, AM Trottier, N Estrada-Merly, M Pozsgai, K McNeely, ...
Blood, The Journal of the American Society of Hematology 140 (24), 2533-2548, 2022
582022
Germline variants drive myelodysplastic syndrome in young adults
S Feurstein, JE Churpek, T Walsh, S Keel, M Hakkarainen, T Schroeder, ...
Leukemia 35 (8), 2439-2444, 2021
532021
Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer
D Singhal, CN Hahn, S Feurstein, LYA Wee, L Moma, MM Kutyna, ...
Leukemia 35 (11), 3245-3256, 2021
432021
GATA2 deficiency syndrome: a decade of discovery
CC Homan, P Venugopal, P Arts, NH Shahrin, S Feurstein, L Rawlings, ...
Human Mutation 42 (11), 1399-1421, 2021
372021
Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations
S Feurstein, A Adegunsoye, D Mojsilovic, R Vij, AH West DePersia, ...
Blood Advances 4 (19), 4873-4886, 2020
332020
Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies
AM Trottier, LJ Druhan, IL Kraft, A Lance, S Feurstein, M Helgeson, ...
Blood Advances 4 (20), 5269-5284, 2020
282020
Germline predisposition to hematopoietic malignancies
S Feurstein, M Drazer, LA Godley
Human molecular genetics 30 (R2), R225-R235, 2021
252021
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline …
D Wu, X Luo, S Feurstein, C Kesserwan, S Mohan, DE Pineda-Alvarez, ...
Haematologica 105 (4), 870, 2020
252020
Haploinsufficiency of ETV6 and CDKN1B in patients with acute myeloid leukemia and complex karyotype
S Feurstein, FG Rücker, L Bullinger, W Hofmann, G Manukjan, G Göhring, ...
BMC genomics 15, 1-11, 2014
252014
Clonal heterogeneity in childhood myelodysplastic syndromes—Challenge for the detection of chromosomal imbalances by array‐CGH
I Praulich, M Tauscher, G Göhring, S Glaser, W Hofmann, S Feurstein, ...
Genes, Chromosomes and Cancer 49 (10), 885-900, 2010
182010
Significance of hereditary gene alterations for the pathogenesis of adult bone marrow failure versus myeloid neoplasia
Y Kubota, M Zawit, J Durrani, W Shen, W Bahaj, T Kewan, B Ponvilawan, ...
Leukemia 36 (12), 2827-2834, 2022
142022
Accurate germline RUNX1 variant interpretation and its clinical significance
S Feurstein, L Zhang, CD DiNardo
Blood Advances 4 (24), 6199-6203, 2020
132020
A practical guide to interpreting germline variants that drive hematopoietic malignancies, bone marrow failure, and chronic cytopenias
S Feurstein, CN Hahn, N Mehta, LA Godley
Genetics in Medicine 24 (4), 931-954, 2022
112022
Routes of clonal evolution into complex karyotypes in myelodysplastic syndrome patients with 5q deletion
S Feurstein, K Thomay, W Hofmann, G Buesche, H Kreipe, F Thol, ...
International Journal of Molecular Sciences 19 (10), 3269, 2018
102018
Revision of RUNX1 variant curation rules
S Feurstein, X Luo, M Shah, T Walker, N Mehta, D Wu, LA Godley
Blood Advances 6 (16), 4726-4730, 2022
92022
Emerging bone marrow failure syndromes-new pieces to an unsolved puzzle
S Feurstein
Frontiers in Oncology 13, 1128533, 2023
32023
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