Search Results - "Larcher, Lise"
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Clinical and Molecular Determinants of Clonal Evolution in Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria
Published in Journal of clinical oncology (01-01-2023)“…Secondary myeloid neoplasms (sMNs) remain the most serious long-term complications in patients with aplastic anemia (AA) and paroxysmal nocturnal…”
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Prevalence of UBA1 mutations in MDS/CMML patients with systemic inflammatory and auto-immune disease
Published in Leukemia (01-09-2021)Get full text
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Myelodysplastic Syndrome associated TET2 mutations affect NK cell function and genome methylation
Published in Nature communications (03-02-2023)“…Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders, representing high risk of progression to acute myeloid leukaemia, and frequently associated…”
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Concurrent CDX2 cis-deregulation and UBTF::ATXN7L3 fusion define a novel high-risk subtype of B-cell ALL
Published in Blood (16-06-2022)“…Oncogenic alterations underlying B-cell acute lymphoblastic leukemia (B-ALL) in adults remain incompletely elucidated. To uncover novel oncogenic drivers, we…”
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Orogenital Transmission of Neisseria meningitidis Causing Acute Urethritis in Men Who Have Sex with Men
Published in Emerging infectious diseases (01-01-2019)“…Neisseria meningitidis sequence type 11 is an emerging cause of urethritis. We demonstrate by using whole-genome sequencing orogenital transmission of a N…”
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Somatic genetic alterations predict hematological progression in GATA2 deficiency
Published in Haematologica (Roma) (01-06-2023)“…Germline GATA2 mutations predispose to myeloid malignancies resulting from the progressive acquisition of additional somatic mutations. Here we describe…”
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Allogeneic transplantation in acute myelogenous leukemia: a comprehensive single institution's experience
Published in Haematologica (Roma) (01-09-2023)“…Since decades, debates on the role and timing of allogeneic transplantation HSCT in acute myelogenous leukemia (AML) persist. Time to transplant introduces an…”
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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Published in Genetics in medicine (01-09-2019)“…To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare…”
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Hematopoietic differentiation at single-cell resolution in NPM1-mutated AML
Published in Blood cancer journal (New York) (23-09-2022)Get full text
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Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes
Published in Molecular therapy. Methods & clinical development (10-09-2021)“…Difficulties in the collection of hematopoietic stem and progenitor cells (HSPCs) from Fanconi anemia (FA) patients have limited the gene therapy in this…”
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P315: TP53 ALTERATIONS AND MRD REFINE PROGNOSIS OF ADULT KMT2A‐REARRANGED B‐ALL
Published in HemaSphere (08-08-2023)Get full text
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Prognostic impact of DDX41 germline mutations in intensively treated acute myeloid leukemia patients: an ALFA-FILO study
Published in Blood (18-08-2022)“…DDX41 germline mutations (DDX41MutGL) are the most common genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia (AML). Recent reports…”
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Characteristics of Germline CHEK2 Mutated Patients in a Large Cohort of 2322 Myeloid Malignancies
Published in Blood (15-11-2022)Get full text
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Germline CHEK2 mutations in patients with myeloid neoplasms
Published in Leukemia (01-04-2024)Get full text
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Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia
Published in Cell stem cell (02-02-2023)“…Fanconi anemia (FA) patients experience chromosome instability, yielding hematopoietic stem/progenitor cell (HSPC) exhaustion and predisposition to…”
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A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations
Published in Human molecular genetics (18-05-2023)“…Abstract Biallelic germline mutations in BRCA2 occur in the Fanconi anemia (FA)-D1 subtype of the rare pediatric disorder, FA, characterized clinically by…”
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A clickable melphalan for monitoring DNA interstrand crosslink accumulation and detecting ICL repair defects in Fanconi anemia patient cells
Published in Nucleic acids research (25-08-2023)“…Abstract Fanconi anemia (FA) is a genetic disorder associated with developmental defects, bone marrow failure and cancer. The FA pathway is crucial for the…”
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3041 – THE ROLE OF CLONAL HEMATOPOIESIS IN ADULT ACUTE LYMPHOBLASTIC LEUKEMIA
Published in Experimental hematology (2023)Get full text
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Genetic alterations and MRD refine risk assessment for KMT2A-rearranged B-cell precursor ALL in adults: a GRAALL study
Published in Blood (23-11-2023)“…KMT2A-rearranged (KMT2A-r) B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is widely recognized as a high-risk leukemia in both children and adults…”
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