Recent publications published by researchers at the MRC WIMM.
Author Correction: The α-globin super-enhancer acts in an orientation-dependent manner.
Kassouf MT. et al, (2025), Nat Commun, 16
The α-globin super-enhancer acts in an orientation-dependent manner.
Kassouf MT. et al, (2025), Nat Commun, 16
Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.
Harteveld CL. et al, (2024), Int J Mol Sci, 25
Haemoglobin Bart's Hydrops Fetalis: Charting the Past and Envisioning the Future.
Amid A. et al, (2024), Blood
Super-enhancers include classical enhancers and facilitators to fully activate gene expression.
Blayney JW. et al, (2023), Cell, 186, 5826 - 5839.e18
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT. et al, (2023), Genome Med, 15
RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.
Martell DJ. et al, (2023), Dev Cell, 58, 2112 - 2127.e4
A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.
Tillotson R. et al, (2023), Hum Mol Genet, 32, 2485 - 2501
On-microscope staging of live cells reveals changes in the dynamics of transcriptional bursting during differentiation.
Jeziorska DM. et al, (2022), Nat Commun, 13
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH. et al, (2022), Nat Commun, 13
Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level.
Scott C. et al, (2022), Br J Haematol, 198, e10 - e14
Scalable in vitro production of defined mouse erythroblasts.
Francis HS. et al, (2022), PLoS One, 17
Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.
Scott C. et al, (2021), Haematologica, 106, 2960 - 2970
Reactivation of a developmentally silenced embryonic globin gene.
King AJ. et al, (2021), Nat Commun, 12
Genetic and functional insights into CDA-I prevalence and pathogenesis.
Olijnik A-A. et al, (2021), J Med Genet, 58, 185 - 195
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED. et al, (2020), Nature, 584
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED. et al, (2020), Nature, 583, 90 - 95