An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects

A High-Resolution Enhancer Atlas of the Developing Telencephalon

(2013) Axel Visel et al.   CELL

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

(2012) Lingli Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63

(2012) Brian J. Zarnegar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide analysis of p63 binding sites identifies AP-2 factors as co-regulators of epidermal differentiation

(2012) Simon S. McDade et al.   NUCLEIC ACIDS RESEARCH

A Conserved Pbx-Wnt-p63-Irf6 Regulatory Module Controls Face Morphogenesis by Promoting Epithelial Apoptosis

(2011) Elisabetta Ferretti et al.   DEVELOPMENTAL CELL

MCS9.7enhancer activity is highly, but not completely, associated with expression of Irf6 and p63

(2011) Walid D. Fakhouri et al.   DEVELOPMENTAL DYNAMICS

Cleft lip and palate: understanding genetic and environmental influences

(2011) Michael J. Dixon et al.   NATURE REVIEWS GENETICS

Multiple enhancers ensure precision of gap gene-expression patterns in the Drosophila embryo

(2011) M. W. Perry et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice

(2010) Helen A. Thomason et al.   JOURNAL OF CLINICAL INVESTIGATION

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

(2009) Renata L L Ferreira de Lima et al.   GENETICS IN MEDICINE

Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence

(2009) Rebecca J. Richardson et al.   HUMAN MOLECULAR GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Genomic views of distant-acting enhancers

(2009) Axel Visel et al.   NATURE

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24

(2009) Stefanie Birnbaum et al.   NATURE GENETICS

The genetics of isolated orofacial clefts: from genotypes to subphenotypes

(2009) A Jugessur et al.   ORAL DISEASES

Facial clefting in Tp63 deficient mice results from altered Bmp4, Fgf8 and Shh signaling

(2008) Helen A. Thomason et al.   DEVELOPMENTAL BIOLOGY

Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip

(2008) Fedik Rahimov et al.   NATURE GENETICS