Search Results - "Voss, Rebecca"
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Genomic and global gene expression profiling in pediatric and young adult acute leukemia with PICALM::MLLT10 Fusion
Published in Leukemia (01-05-2024)“…PICALM::MLLT10 fusion is a rare but recurrent genetic driver in acute leukemias. To better understand the genomic landscape of PICALM::MLLT10 (PM) positive…”
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Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency
Published in Leukemia (01-10-2020)“…Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to myelodysplastic syndromes (MDS) and immunodeficiency. It…”
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GENOTYPE/PHENOTYPE ASSOCIATIONS IN 174 INDIVIDUALS WITH GERMLINE GATA2 MUTATIONS
Published in EJC paediatric oncology (01-12-2023)Get full text
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Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders
Published in Journal of allergy and clinical immunology (01-01-2018)“…Malignancies occur with a higher incidence rate and manifest earlier in life in patients with primary immunodeficiency disorders (PIDs) than in the general…”
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Abstract B036: Integrating gene expression evaluation in molecular diagnostics for pediatric AML molecular classification
Published in Cancer research (Chicago, Ill.) (05-09-2024)“…Abstract Next generation sequencing (NGS) based molecular profiling has been proven to be robust and reliable in detecting most biological attributes in acute…”
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Monosomy 7 As the Initial Hit Followed By Sequential Acquisition of SETBP1 and ASXL1 Driver Mutations in Childhood Myelodysplastic Syndromes
Published in Blood (29-11-2018)“…Childhood myelodysplastic syndromes (MDS) account for less than 5% of pediatric hematologic malignancies and differ from their adult counterpart in terms of…”
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Organosilicas with Chiral Bridges and Self-Generating Mesoporosity
Published in Chemistry of materials (15-05-2007)“…Amine-functionalized, chiral mesoporous organosilicas were prepared from a rationally designed precursor, which combines the functions of a network builder, a…”
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SAMD9 and SAMD9L Germline Disorders in Patients Enrolled in Studies of the European Working Group of MDS in Childhood (EWOG-MDS): Prevalence, Outcome, Phenotype and Functional Characterisation
Published in Blood (29-11-2018)“…▪ Hereditary predisposition has been ever since implicated in the etiology of childhood myelodysplastic syndromes (MDS). Until recently, GATA2 deficiency…”
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Systematic Assessment of GATA2 Genetic Variation Reveals the Presence of Novel Disease-Causing Synonymous Exonic Mutations
Published in Blood (08-12-2017)“…Among its different clinical presentations, GATA2 deficiency had been recognized as the most frequent hereditary predisposition to pediatric myelodysplastic…”
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Heterostructures of Polymer Photonic Crystal Films
Published in Chemistry of materials (07-10-2003)“…This paper describes ways to multilayer opaline films (opaline heterostructures) composed from functional opal layers of spheres with different lattice…”
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