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Haploinsufficiency of TAB2 causes congenital heart defects in humans.
Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. We identified a locusExpand
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Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.
Congenital heart disease (CHD) affects nearly 1% of the population, but only few genes involved in human CHD are presently known. Germ-line mutations in the zinc finger transcription factor GATA4Expand
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Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development
The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3,Expand
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Mapping of Chromosomal Breakpoints Associated with Congenital Heart Defects Using Fluorescence In-situ Hybridization ( FISH ) : A Bypass for Isolation of Candidate Disease Genes
Atrial septal defect 46, XY, inv (8) (p23q13) mat Cleft palate Figure 2. Strategy for isolation of disease genes using disease associated balanced chromosome rearrangements. A. Karyotyping of aExpand