Christian Babbs

This study identifies the transcriptional regulatory mechanisms governing ERFE expression in human erythroblasts using genomic approaches.

This study shows that SUPT5H mutations disrupt RNA polymerase II pausing, delaying erythroid differentiation and cell cycle progression in human cells.

This paper introduces a knock-in mouse model of ATR-X syndrome carrying a common patient mutation, showing craniofacial defects, microcephaly, and impaired neurological function.

The paper uses live-cell imaging to study transcriptional bursting dynamics during mouse erythropoiesis, finding changes in burst patterns associated with differentiation stages.

The paper shows that super-enhancers function directionally and orientation-dependently, unlike regular enhancers, by analyzing the β-globin super-enhancer.

This paper establishes a scalable protocol to isolate primitive-like erythroid cells from in vitro differentiated mESCs, showing they recapitulate normal erythropoiesis and mutation effects seen in primary cells.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

This study investigates ATR-16 syndrome, finding that deletion size correlates with severity but no critical region defines the phenotype, and genetic background significantly affects outcomes.

This study models erythropoiesis in CDA-I by analyzing patient-derived erythroblasts, identifying abnormalities in DNA accessibility, proliferation, and enucleation, with genotype-phenotype correlations.

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.