Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

(2010) Lionel Arnaud et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transcriptional silencing of  -globin by BCL11A involves long-range interactions and cooperation with SOX6

(2010) J. Xu et al.   GENES & DEVELOPMENT

Mutation in erythroid specific transcription factor KLF1 causes Hereditary Spherocytosis in the Nan hemolytic anemia mouse model

(2010) Daniel P. Heruth et al.   GENOMICS

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

(2010) Joseph Borg et al.   NATURE GENETICS

Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor

(2010) M. Siatecka et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic recombination as a major cause of mutagenesis in the human globin gene clusters

(2009) Joseph Borg et al.   CLINICAL BIOCHEMISTRY

Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants

(2008) Kamran Moradkhani et al.   ANNALS OF HEMATOLOGY

Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype

(2008) B. K. Singleton et al.   BLOOD

Pharmacogenomics and Therapeutics of Hemoglobinopathies

(2008) George P. Patrinos et al.   HEMOGLOBIN

Silencing of A -Globin Gene Expression during Adult Definitive Erythropoiesis Mediated by GATA-1-FOG-1-Mi2 Complex Binding at the -566 GATA Site

(2008) S. Harju-Baker et al.   MOLECULAR AND CELLULAR BIOLOGY

Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific RepressorBCL11A

(2008) Vijay G. Sankaran et al.   SCIENCE

Human Variome Microattribution Reviews

(2007)   NATURE GENETICS