New insights into craniofacial malformations

Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia

(2015) Christopher T. Gordon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

(2015) K. Nicole Weaver et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans

(2015) Zhonglin Jia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions

(2015) Mei Qi Kwa et al.   CELLULAR SIGNALLING

A review of craniofacial disorders caused by spliceosomal defects

(2015) D. Lehalle et al.   CLINICAL GENETICS

Pax3 and Pax7 Play Essential Safeguard Functions against Environmental Stress-Induced Birth Defects

(2015) Antoine Zalc et al.   DEVELOPMENTAL CELL

TGFβ3 Regulates Periderm Removal Through ΔNp63 in the Developing Palate

(2015) Lihua Hu et al.   JOURNAL OF CELLULAR PHYSIOLOGY

The suture provides a niche for mesenchymal stem cells of craniofacial bones

(2015) Hu Zhao et al.   NATURE CELL BIOLOGY

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

(2015) Jenny C Taylor et al.   NATURE GENETICS

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

Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis

(2014) Joshua D. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

(2014) Nadja Ehmke et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

(2014) Dagmar Wieczorek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genesTSR2andRPS28

(2014) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population

(2014) Azeez Butali et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants withinGremlin-1, a component of the bone morphogenetic protein 4 pathway

(2014) Taofik Al Chawa et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Nonsyndromic cleft lip with or without cleft palate in arab populations: Genetic analysis of 15 risk loci in a novel case-control sample recruited in Yemen

(2014) Khalid Ahmed Aldhorae et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Analysis of susceptibility polymorphisms for nonsyndromic cleft lip with or without cleft palate in the Brazilian population

(2014) Sibele Nascimento de Aquino et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

A novel RIPK4–IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes

(2014) P De Groote et al.   CELL DEATH AND DIFFERENTIATION

Toward DNA-based facial composites: Preliminary results and validation

(2014) Peter Claes et al.   Forensic Science International-Genetics

Whole Exome Sequencing of Distant Relatives in Multiplex Families Implicates Rare Variants in Candidate Genes for Oral Clefts

(2014) A. Bureau et al.   GENETICS

Opposite effects on facial morphology due to gene dosage sensitivity

(2014) Peter Hammond et al.   HUMAN GENETICS

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

(2014) W. D. Fakhouri et al.   HUMAN MOLECULAR GENETICS

Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription

(2014) Cynthia L. Neben et al.   HUMAN MOLECULAR GENETICS

Mutations inSNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

(2014) Séverine Bacrot et al.   HUMAN MUTATION

Identification of a Face Enhancer Reveals Direct Regulation of LIM Homeobox 8 (Lhx8) by Wingless-Int (WNT)/β-Catenin Signaling

(2014) André Landin Malt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Receptor-interacting Protein Kinase 4 and Interferon Regulatory Factor 6 Function as a Signaling Axis to Regulate Keratinocyte Differentiation

(2014) Mei Qi Kwa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Periderm prevents pathological epithelial adhesions during embryogenesis

(2014) Rebecca J. Richardson et al.   JOURNAL OF CLINICAL INVESTIGATION

Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis

(2014) Hiroshi Kurosaka et al.   JOURNAL OF CLINICAL INVESTIGATION

Strong Association of Variants around FOXE1 and Orofacial Clefting

(2014) K.U. Ludwig et al.   JOURNAL OF DENTAL RESEARCH

Mutations inSPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

(2014) Paul Kruszka et al.   JOURNAL OF MEDICAL GENETICS

Inappropriate p53 activation during development induces features of CHARGE syndrome

(2014) Jeanine L. Van Nostrand et al.   NATURE

Long-range enhancers regulating Myc expression are required for normal facial morphogenesis

(2014) Veli Vural Uslu et al.   NATURE GENETICS

Defining the role of common variation in the genomic and biological architecture of adult human height

(2014) Andrew R Wood et al.   NATURE GENETICS

Functional Analysis of SPECC1L in Craniofacial Development and Oblique Facial Cleft Pathogenesis

(2014) Lisa Gfrerer et al.   PLASTIC AND RECONSTRUCTIVE SURGERY

Joint Testing of Genotypic and Gene-Environment Interaction Identified Novel Association for BMP4 with Non-Syndromic CL/P in an Asian Population Using Data from an International Cleft Consortium

(2014) Qianqian Chen et al.   PLoS One

Classification and Visualization Based on Derived Image Features: Application to Genetic Syndromes

(2014) Brunilda Balliu et al.   PLoS One

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

(2014) Danielle C. Lynch et al.   Nature Communications

A LINE-1 Insertion in DLX6 Is Responsible for Cleft Palate and Mandibular Abnormalities in a Canine Model of Pierre Robin Sequence

(2014) Zena T. Wolf et al.   PLoS Genetics

Let's Face It—Complex Traits Are Just Not That Simple

(2014) Benedikt Hallgrimsson et al.   PLoS Genetics

Modeling 3D Facial Shape from DNA

(2014) Peter Claes et al.   PLoS Genetics

Diagnostically relevant facial gestalt information from ordinary photos

(2014) Quentin Ferry et al.   eLife

Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

(2013) Christopher T. Gordon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid

(2013) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

(2013) Francine P. Favaro et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development

(2013) Myriam Peyrard-Janvid et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants inPAX7andVAX1in the Etiology of Nonsyndromic CL(P)

(2013) Azeez Butali et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders

(2013) Paul A. Trainor et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population

(2013) Kerstin U. Ludwig et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Smad4-Irf6 genetic interaction and TGF -mediated IRF6 signaling cascade are crucial for palatal fusion in mice

(2013) J.-i. Iwata et al.   DEVELOPMENT

Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations

(2013) Ardeshir Omoumi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

(2013) Christopher T Gordon et al.   JOURNAL OF MEDICAL GENETICS

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

(2013) Stephen R F Twigg et al.   NATURE GENETICS

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

(2013) Vikram P Sharma et al.   NATURE GENETICS

Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers

(2013) C. Attanasio et al.   SCIENCE

Cdc45 Is a Critical Effector of Myc-Dependent DNA Replication Stress

(2013) Seetha V. Srinivasan et al.   Cell Reports

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

(2012) Mark J. Rieder et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

(2012) Matthew A. Lines et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

(2012) Francois P. Bernier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation of cranial morphogenesis and cell fate at the neural crest-mesoderm boundary by engrailed 1

(2012) R. A. Deckelbaum et al.   DEVELOPMENT

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases

(2012) Elizabeth J. Leslie et al.   GENETICS IN MEDICINE

Interferon Regulatory Factor 6 Promotes Differentiation of the Periderm by Activating Expression of Grainyhead-Like 3

(2012) Gabriel de la Garza et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

(2011) Irfan Saadi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus

(2011) Karen Mitchell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

(2011) Ersan Kalay et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular mechanisms of cranial neural crest cell migration and patterning in craniofacial development

(2010) M. Minoux et al.   DEVELOPMENT

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

Huwe1 ubiquitin ligase is essential to synchronize neuronal and glial differentiation in the developing cerebellum

(2010) D. D'Arca et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

New directions in craniofacial morphogenesis

(2009) Heather L. Szabo-Rogers et al.   DEVELOPMENTAL BIOLOGY

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

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

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

(2008) Jeff M. Milunsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cell lineage in mammalian craniofacial mesenchyme

(2008) Toshiyuki Yoshida et al.   MECHANISMS OF DEVELOPMENT

The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein

(2008) Xudong Zhao et al.   NATURE CELL BIOLOGY

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

(2008) Fedik Rahimov et al.   NATURE GENETICS

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function

(2008) Natalie C Jones et al.   NATURE MEDICINE

An endothelin-1 switch specifies maxillomandibular identity

(2008) T. Sato et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA