Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer, +238

Journal of Allergy and Clinical Immunology

Autoimmune DiseaseGenetic DisorderMedicineGeneticsImmunologic Phenotype +9

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

R. Petersen, John Lambourne, Biola M. Javierre, +56

Nature Communications

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Matthew C. Sims, Louisa Mayer, Janine Collins, +49

Blood

Histone Acetyltransferase KAT2A Stabilizes Pluripotency with Control of Transcriptional Heterogeneity

Naomi Moris, Shlomit Edri, Denis Seyres, +5

Stem Cells

Bayesian Inference Associates Rare <i>KDR</i> Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

Emilia M. Swietlik, Daniel Greene, Na Zhu, +463

Circulation Genomic and Precision Medicine

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Claire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, +24

Blood

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

Tadbir K. Bariana, Veerle Labarque, Jessica Heremans, +19

Haematologica

Epitope-engineered human hematopoietic stem cells are shielded from CD123-targeted immunotherapy

Romina Marone, Emmanuelle Landmann, Anna Devaux, +31

The Journal of Experimental Medicine

A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology

Parsa Akbari, Dragana Vuckovic, Luca Stefanucci, +29

Nature Communications

Selective haematological cancer eradication with preserved haematopoiesis

Simon Garaudé, Romina Marone, Rosalba Lepore, +25

Nature