Detalhe da pesquisa
1.
Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages.
Blood
; 140(24): 2533-2548, 2022 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35969835
2.
Germline predisposition to hematopoietic malignancies.
Hum Mol Genet
; 30(20): R225-R235, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34100074
3.
Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review.
Genet Med
; 25(3): 100354, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36496180
4.
A practical guide to interpreting germline variants that drive hematopoietic malignancies, bone marrow failure, and chronic cytopenias.
Genet Med
; 24(4): 931-954, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063349
5.
GATA2 deficiency syndrome: A decade of discovery.
Hum Mutat
; 42(11): 1399-1421, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387894
6.
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.
Haematologica
; 105(4): 870-887, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32165484
7.
Routes of Clonal Evolution into Complex Karyotypes in Myelodysplastic Syndrome Patients with 5q Deletion.
Int J Mol Sci
; 19(10)2018 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30347879
8.
Haploinsufficiency of ETV6 and CDKN1B in patients with acute myeloid leukemia and complex karyotype.
BMC Genomics
; 15: 784, 2014 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25213837
9.
Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.
Best Pract Res Clin Haematol
; 37(1): 101537, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38490765
10.
Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.
Front Oncol
; 13: 1128533, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37091189
11.
Germline and somatic drivers in inherited hematologic malignancies.
Front Oncol
; 13: 1205855, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37904876
12.
Concurrent light chain amyloidosis and proximal tubulopathy: Insights into different aggregation behavior-A case report.
EJHaem
; 3(4): 1377-1380, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36467828
13.
Significance of hereditary gene alterations for the pathogenesis of adult bone marrow failure versus myeloid neoplasia.
Leukemia
; 36(12): 2827-2834, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36266327
14.
Clonal heterogeneity in childhood myelodysplastic syndromes--challenge for the detection of chromosomal imbalances by array-CGH.
Genes Chromosomes Cancer
; 49(10): 885-900, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20589934
15.
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.
Leukemia
; 35(11): 3245-3256, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33850299
16.
Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.
Blood Adv
; 4(20): 5269-5284, 2020 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108454
17.
Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Blood Adv
; 4(19): 4873-4886, 2020 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33035329
18.
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Blood Adv
; 3(20): 2962-2979, 2019 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31648317
19.
Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies.
Blood Adv
; 2(2): 146-150, 2018 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29365323
20.
Germline ETV6 mutations and predisposition to hematological malignancies.
Int J Hematol
; 106(2): 189-195, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28555414