Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Michael Y. Zhang, Jane E. Churpek, Sioḃán Keel, +23

Nature Genetics

Hematological MalignancyHematologyPathologyMolecular DiagnosticsGermline Etv6 Mutations

Poly(A)-specific ribonuclease (PARN) mediates 3′-end maturation of the telomerase RNA component

Diane H. Moon, Matthew Segal, Bariş Boyraz, +5

Nature Genetics

ChromatinTranscriptional Regulation-Specific RibonucleaseNucleic Acid ChemistryNatural Sciences +12

Hedgehog Signaling Is Dispensable for Adult Murine Hematopoietic Stem Cell Function and Hematopoiesis

Inga Hofmann, Elizabeth H. Stover, Dana E. Cullen, +13

Cell stem cell

Induced Pluripotent Stem CellDevelopmental BiologyHedgehog SignalingMedicineStem Cell Mobilization +6

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Alyssa L. Kennedy, Kasiani C. Myers, James R. Bowman, +40

Nature Communications

A Novel Macromolecular Prodrug Concept Exploiting Endogenous Serum Albumin as a Drug Carrier for Cancer Chemotherapy

Felix Kratz, Ralph Müller-Driver, Inga Hofmann, +2

Journal of Medicinal Chemistry

Chemoprevention StrategyAltmetric Attention ScorePharmacotherapyCancer ChemotherapyTumor Biology +19

<i>CTC1</i> Mutations in a patient with dyskeratosis congenita

Rachel B. Keller, Katelyn E. Gagne, G. Naheed Usmani, +4

Pediatric Blood & Cancer

Genome InstabilityMendelian DisorderGenetic DisorderMedicineGenetics +8

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity

Mingyu Zhang, Sioḃán Keel, Tom Walsh, +12

Haematologica

EngineeringGeneticsPathologyDisease Gene IdentificationGenomics +14

Mutations of the hemophagocytic lymphohistiocytosis–associated gene <i>UNC13D</i> in a patient with systemic juvenile idiopathic arthritis

Melissa M. Hazen, Amy Woodward, Inga Hofmann, +4

Arthritis & Rheumatism

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Klaus Schmitz‐Abe, Szymon J. Ciesielski, Paul J. Schmidt, +25

Blood

Single-nucleotide human disease mutation inactivates a blood-regenerative GATA2 enhancer

Alexandra A. Soukup, Ye Zheng, Charu Mehta, +10

Journal of Clinical Investigation

Blood-regenerative Gata2 EnhancerGene TherapiesGata-binding Protein 2Developmental BiologyCell Regulation +11