Associated Papers
Long read sequencing reveals novel genomic and epigenomic alterations in repetitive regions of high grade serous ovarian cancer.
Takamatsu S et al.
Scientific Reports, 2025
Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.
Gibson LM et al.
International Journal of Molecular Sciences, 2025
Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.
Jeong R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.
Zhu S et al.
Human Mutation, 2025
Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.
Itai T et al.
Hgg Advances, 2024
Causal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.
Yang CW et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2024
Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.
Naicker T et al.
Molecular Genetics & Genomic Medicine, 2023
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
Alade AA et al.
Molecular Genetics & Genomic Medicine, 2020
Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature.
Eliezer DD et al.
Bmj Case Reports, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Zebrafish models of orofacial clefts.
Duncan KM et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2017
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.
Busche A et al.
American Journal of Medical Genetics. Part A, 2016
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
Leslie EJ et al.
American Journal of Medical Genetics. Part A, 2015
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.
Ratbi I et al.
Journal of Medical Case Reports, 2014
Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa.
Butali A et al.
Molecular Genetics & Genomic Medicine, 2014
Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.
Leslie EJ et al.
American Journal of Medical Genetics. Part A, 2013
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.
Leslie EJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
Matsuzawa N et al.
American Journal of Medical Genetics. Part A, 2010
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.
de Lima RL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.
Little HJ et al.
Human Molecular Genetics, 2009
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Kondo S et al.
Nature Genetics, 2002
Mutations in Van Der Woude Families From Ethiopia.
Eshete M et al.
The Journal of Craniofacial Surgery, 0