The remarkable phenotypic diversity of β thalassemia that range from severe anemia and
transfusion-dependency, to a clinically asymptomatic state exemplifies how a spectrum of …

Sickle cell anemia is associated with unusual clinical heterogeneity for a Mendelian
disorder. Fetal hemoglobin concentration and coincident α thalassemia, both which directly …

The human genome encodes the blueprint of life, but the function of the vast majority of its
nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) …

The β-thalassemia syndromes reflect deficient or absent β-globin synthesis usually owing to
a mutation in the β-globin locus. The relative excess of α-globin results in the formation of …

Genetic studies have identified common variants within the intergenic region (HBS1L-MYB)
between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on …

Differential gene expression is the fundamental mechanism underlying animal development
and cell differentiation. However, it is a challenge to identify comprehensively and accurately …

Sickle cell disease is a very variable condition, with outcomes ranging from death in
childhood to living relatively symptom free into the 8 th decade. Much of this variability is …

Clonal proliferation in myeloproliferative neoplasms (MPN) is driven by somatic mutations in
JAK2, CALR or MPL, but the contribution of inherited factors is poorly characterized. Using a …

Mutations in human Krüppel-like factor 1 (KLF1) have recently been reported to be
responsible for increased fetal hemoglobin (HbF) and hemoglobin A2 (HbA2). Because …

Abstract Cas9-mediated, high-throughput, saturating in situ mutagenesis permits fine-
mapping of function across genomic segments. Disease-and trait-associated variants …