The Evolution of Human Genetic Studies of Cleft Lip and Cleft Palate

AXIS inhibition protein 2, orofacial clefts and a family history of cancer

(2014) Renato Menezes et al.   JOURNAL OF THE AMERICAN DENTAL ASSOCIATION

The PhenX Toolkit: Get the Most From Your Measures

(2011) C. M. Hamilton et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African cohort

(2011) R. Christopher Weatherley-White et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate

(2011) Piranit N. Kantaputra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Risk of Breast Cancer in Families with Cleft Lip and Palate

(2011) Alexander Dietz et al.   ANNALS OF EPIDEMIOLOGY

Variation in FGF1, FOXE1, and TIMP2genes is associated with nonsyndromic cleft lip with or without cleft palate

(2011) Tiit Nikopensius et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

The CRISPLD2 gene is involved in cleft lip and/or cleft palate in a Chinese population

(2011) Xi Shen et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population

(2011) José Suazo et al.   BMC Medical Genetics

Genetic Studies in the Nigerian Population Implicate an MSX1 Mutation in Complex Oral Facial Clefting Disorders

(2011) A. Butali et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

The FaceBase Consortium: A comprehensive program to facilitate craniofacial research

(2011) Harry Hochheiser et al.   DEVELOPMENTAL BIOLOGY

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

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

Risk of Oral Clefts in Twins

(2011) Dorthe Grosen et al.   EPIDEMIOLOGY

An informatics project and online “Knowledge Centre” supporting modern genotype-to-phenotype research

(2011) Adam J. Webb et al.   HUMAN MUTATION

Cleft lip and palate: understanding genetic and environmental influences

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

Breakthroughs in the genetics of orofacial clefting

(2011) Elisabeth Mangold et al.   TRENDS IN MOLECULAR MEDICINE

Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate

(2010) Ariadne Letra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recurrence risk for offspring of twins discordant for oral cleft: A population-based cohort study of the Danish 1936-2004 cleft twin cohort

(2010) Dorthe Grosen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population

(2010) Yongchu Pan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25

(2010) Augusto Rojas-Martinez et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection

(2010) Brett T. Chiquet et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

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

Filipino Explanatory Models of Cleft Lip With or Without Cleft Palate

(2010) Sandra Daack-Hirsch et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

CRISPLD2 Variants Including a C471T Silent Mutation May Contribute to Nonsyndromic Cleft Lip with or without Cleft Palate

(2010) Ariadne Letra et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6

(2010) H. Eiberg et al.   CLINICAL GENETICS

Cdx1 refines positional identity of the vertebrate hindbrain by directly repressing Mafb expression

(2010) K. Sturgeon et al.   DEVELOPMENT

Modulation of BMP signaling by Noggin is required for the maintenance of palatal epithelial integrity during palatogenesis

(2010) Fenglei He et al.   DEVELOPMENTAL BIOLOGY

Bmpr1a signaling plays critical roles in palatal shelf growth and palatal bone formation

(2010) Jin-A. Baek et al.   DEVELOPMENTAL BIOLOGY

CRISPLD2 polymorphisms are associated with non-syndromic cleft lip with or without cleft palate in a northern Chinese population

(2010) Jinna Shi et al.   EUROPEAN JOURNAL OF ORAL SCIENCES

The gene, environment association studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions

(2010) Marilyn C. Cornelis et al.   GENETIC EPIDEMIOLOGY

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

Altered binding of MYF-5 to FOXE1 promoter in non-syndromic and CHARGE-associated cleft palate

(2010) Mario Venza et al.   JOURNAL OF ORAL PATHOLOGY & MEDICINE

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

(2010) Terri H Beaty et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft Lip

(2009) Satoshi Suzuki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate

(2009) Katherine Neiswanger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genome-wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European origin

(2009) Elisabeth Mangold et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis

(2009) Veronica G. Beaudry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients

(2009) Tiit Nikopensius et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

IRF6gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate

(2009) Stefanie Birnbaum et al.   EUROPEAN JOURNAL OF ORAL SCIENCES

Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms

(2009) Jae Woong Sull et al.   HUMAN GENETICS

Genome Scan, Fine-Mapping, and Candidate Gene Analysis of Non-Syndromic Cleft Lip with or without Cleft Palate Reveals Phenotype-Specific Differences in Linkage and Association Results

(2009) Mary L. Marazita et al.   HUMAN HEREDITY

FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate

(2009) Lina M. Moreno et al.   HUMAN MOLECULAR GENETICS

Association between IRF6 SNPs and Oral Clefts in West China

(2009) Y. Huang et al.   JOURNAL OF DENTAL RESEARCH

A cohort study of recurrence patterns among more than 54 000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance

(2009) D. Grosen et al.   JOURNAL OF MEDICAL GENETICS

A Genome-Wide Association Study Identifies a Locus for Nonsyndromic Cleft Lip with or without Cleft Palate on 8q24

(2009) Struan F.A. Grant et al.   JOURNAL OF PEDIATRICS

Cleft lip and palate

(2009) Peter A Mossey et al.   LANCET

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

(2009) Elisabeth Mangold et al.   NATURE GENETICS

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

(2009) Stefanie Birnbaum et al.   NATURE GENETICS

The impact of orofacial clefts on quality of life and healthcare use and costs

(2009) GL Wehby et al.   ORAL DISEASES

Face shape of unaffected parents with cleft affected offspring: combining three-dimensional surface imaging and geometric morphometrics

(2009) SM Weinberg et al.   Orthodontics & Craniofacial Research

Genetic Determinants of Facial Clefting: Analysis of 357 Candidate Genes Using Two National Cleft Studies from Scandinavia

(2009) Astanand Jugessur et al.   PLoS One

Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

(2008) Preeti Bakrania et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rethinking isolated cleft palate: Evidence of occult lip defects in a subset of cases

(2008) Seth M. Weinberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Three-dimensional morphometric analysis of craniofacial shape in the unaffected relatives of individuals with nonsyndromic orofacial clefts: A possible marker for genetic susceptibility

(2008) Seth M. Weinberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A genome wide linkage scan for cleft lip and palate and dental anomalies

(2008) Alexandre R. Vieira et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft

(2008) Cécile Chevrier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mouse genetic models of cleft lip with or without cleft palate

(2008) Diana M. Juriloff et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Anatomical Basis for Apparent Subepithelial Cleft Lip: A Histological and Ultrasonographic Survey of the Orbicularis Oris Muscle

(2008) Carolyn R. Rogers et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

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

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

(2008) Fedik Rahimov et al.   NATURE GENETICS