Association and Mutation Analyses of the IRF6 Gene in Families with Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The SNAP25 Gene Is Linked to Working Memory Capacity and Maturation of the Posterior Cingulate Cortex During Childhood

(2010) Stina Söderqvist et al.   BIOLOGICAL PSYCHIATRY

Ethnic Heterogeneity of IRF6 AP-2a Binding Site Promoter SNP Association with Nonsyndromic Cleft Lip and Palate

(2010) Susan H. Blanton et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

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

Lack of association betweenIRF6polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population

(2009) LMR Paranaíba et al.   ORAL DISEASES

Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes

(2008) M. Pegelow et al.   EUROPEAN JOURNAL OF ORTHODONTICS

Genetic variants inIRF6and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway

(2008) Astanand Jugessur et al.   GENETIC EPIDEMIOLOGY

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6

(2008) Hayley J. Little et al.   HUMAN MOLECULAR GENETICS

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

(2008) Fedik Rahimov et al.   NATURE GENETICS