• Publications
  • Influence
Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma
Follicular lymphoma is an incurable malignancy, with transformation to an aggressive subtype representing a critical event during disease progression. Here we performed whole-genome or whole-exomeExpand
  • 431
  • 23
GATA2 mutations in sporadic and familial acute myeloid leukaemia patients with CEBPA mutations
GATA2 mutations have recently been reported in acute myeloid leukaemia (AML) patients with CEBPA‐double mutations. To explore their impact on this favourable‐risk disease, we determined GATA2 statusExpand
  • 44
  • 4
Disease evolution and outcomes in familial AML with germline CEBPA mutations.
In-depth molecular investigation of familial leukemia has been limited by the rarity of recognized cases. This study examines the genetic events initiating leukemia and details the clinicalExpand
  • 74
  • 2
  • PDF
NUP98‐NSD1 fusion in association with FLT3‐ITD mutation identifies a prognostically relevant subgroup of pediatric acute myeloid leukemia patients suitable for monitoring by real time quantitative PCR
The cytogenetically cryptic t(5;11)(q35;p15) leading to the NUP98‐NSD1 fusion is a rare but recurrent gene rearrangement recently reported to identify a group of young AML patients with poorExpand
  • 29
  • 2
Universal genetic testing for inherited susceptibility in children and adults with myelodysplastic syndrome and acute myeloid leukemia: are we there yet?
Comprehensive genomic profiling of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) cases have enabled the detection and differentiation of driver and subclonal mutations, informedExpand
  • 21
  • 1
Inherited DDX41 mutations: 11 genes and counting.
In this issue of Blood , [Lewinsohn and colleagues][1] report on the inherited predisposition to hematologic malignancies (HMs) in 9 pedigrees with germ line mutations in the DEAD/H-box RNA helicaseExpand
  • 17
  • 1
Highly variable clinical manifestations in a large family with a novel GATA2 mutation
2001; 15: 787–793. 7 Ohgami RS, Ohgami JK, Pereira IT, Gitana G, Zehnder JL, Arber DA. Refining the diagnosis of T-cell large granular lymphocytic leukemia by combining distinct patterns of antigenExpand
  • 23
  • 1
Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree
Germline variants within the transcription factor RUNX1 are associated with familial platelet disorder and acute leukemia in over 40% of carriers. At present, the somatic events triggering leukemicExpand
  • 8
  • 1
Familial CEBPA-mutated acute myeloid leukemia.
Familial CEBPA-mutated acute myeloid leukemia (AML) represents a recognized leukemia predisposition syndrome, with several families described in the literature since the initial report in 2004. TheExpand
  • 17
GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML
Saudi Arabian Ministry of Higher Education through a doctoral scholarship awarded to A.F.A.S. and a Bloodwise Programme grant (14032) awarded to J.F., T.V., and I.D.
  • 18