Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting

Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate

(2017) Elizabeth J. Leslie et al.   HUMAN GENETICS

Exome sequencing provides additional evidence for the involvement ofARHGAP29in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate

(2017) Huan Liu et al.   Birth Defects Research

Invariant TAD Boundaries Constrain Cell-Type-Specific Looping Interactions between Promoters and Distal Elements around the CFTR Locus

(2016) Emily M. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression

(2016) Frank Soldner et al.   NATURE

Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

(2015) Elizabeth J. Leslie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A LncRNA-MAF:MAFB Transcription Factor Network Regulates Epidermal Differentiation

(2015) Vanessa Lopez-Pajares et al.   DEVELOPMENTAL CELL

The mouse gene expression database: New features and how to use them effectively

(2015) Jacqueline H. Finger et al.   GENESIS

Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate

(2015) Huan Liu et al.   HUMAN MOLECULAR GENETICS

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles

(2015) Anthony Mathelier et al.   NUCLEIC ACIDS RESEARCH

Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate

(2015) Yimin Sun et al.   Nature Communications

Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate

(2015) Zena T. Wolf et al.   PLoS Genetics

A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

(2014) Suhas S.P. Rao et al.   CELL

A Defined Zebrafish Line for High-Throughput Genetics and Genomics: NHGRI-1

(2014) Matthew C. LaFave et al.   GENETICS

Interferon regulatory factor 6 regulates keratinocyte migration

(2014) L. C. Biggs et al.   JOURNAL OF CELL SCIENCE

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

(2014) Janan T. Eppig et al.   NUCLEIC ACIDS RESEARCH

A Streamlined CRISPR Pipeline to Reliably Generate Zebrafish Frameshifting Alleles

(2014) Jared Coffin Talbot et al.   Zebrafish

An Efficient Genotyping Method for Genome-modified Animals and Human Cells Generated with CRISPR/Cas9 System

(2014) Xiaoxiao Zhu et al.   Scientific Reports

Beyond GWASs: Illuminating the Dark Road from Association to Function

(2013) Stacey L. Edwards et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of constitutive CTCF/cohesin loci: a possible role in establishing topological domains in mammalian genomes

(2013) Yuanyuan Li et al.   BMC GENOMICS

Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits

(2013) O. Corradin et al.   GENOME RESEARCH

Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study

(2013) T. H. Beaty et al.   HUMAN GENETICS

Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers

(2013) C. Attanasio et al.   SCIENCE

Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22

(2012) Elizabeth J. Leslie et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Extensive Promoter-Centered Chromatin Interactions Provide a Topological Basis for Transcription Regulation

(2012) Guoliang Li et al.   CELL

ZNF750 Is a p63 Target Gene that Induces KLF4 to Drive Terminal Epidermal Differentiation

(2012) George L. Sen et al.   DEVELOPMENTAL CELL

GWAS reveals new recessive loci associated with non-syndromic facial clefting

(2012) Mauricio Camargo et al.   European Journal of Medical Genetics

Topological domains in mammalian genomes identified by analysis of chromatin interactions

(2012) Jesse R. Dixon et al.   NATURE

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

(2012) Kerstin U Ludwig et al.   NATURE GENETICS

Transcription factors: from enhancer binding to developmental control

(2012) François Spitz et al.   NATURE REVIEWS GENETICS

Genetics of Nonsyndromic Orofacial Clefts

(2011) Fedik Rahimov et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

RhoA is dispensable for skin development, but crucial for contraction and directed migration of keratinocytes

(2011) Ben Jackson et al.   MOLECULAR BIOLOGY OF THE CELL

CTCF-mediated functional chromatin interactome in pluripotent cells

(2011) Lusy Handoko et al.   NATURE GENETICS

Cleft lip and palate: understanding genetic and environmental influences

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

Migration of epithelial cells on laminins: RhoA antagonizes directionally persistent migration

(2010) Zhigang Zhang et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

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

Zebrafish enhancer detection (ZED) vector: A new tool to facilitate transgenesis and the functional analysis ofcis-regulatory regions in zebrafish

(2009) José Bessa et al.   DEVELOPMENTAL DYNAMICS

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

High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening

(2009) Rolf H.A.M. Vossen et al.   HUMAN MUTATION

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

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

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

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS