Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts

MEIS2involvement in cardiac development, cleft palate, and intellectual disability

(2015) Jacoba J. Louw et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Retinoic acid inhibits histone methyltransferase Whsc1 during palatogenesis

(2015) Shiying Liu et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Fine Mapping of 6q23.1 Identifies TULP4 as Contributing to Clefts

(2015) Alexandre R. Vieira et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Negative regulation of TGFβ-induced lens epithelial to mesenchymal transition (EMT) by RTK antagonists

(2015) Guannan Zhao et al.   EXPERIMENTAL EYE RESEARCH

ERK2 Alone Drives Inflammatory Pain But Cooperates with ERK1 in Sensory Neuron Survival

(2015) D. E. O'Brien et al.   JOURNAL OF NEUROSCIENCE

Protocadherins branch out: Multiple roles in dendrite development

(2015) Austin B Keeler et al.   Cell Adhesion & Migration

Fine Mapping of 6q23.1 Identifies TULP4 as Contributing to Clefts

(2015) Alexandre R. Vieira et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Yes-mediated phosphorylation of focal adhesion kinase at tyrosine 861 increases metastatic potential of prostate cancer cells

(2015) Tanushree Chatterji et al.   Oncotarget

Cosuppression of Sprouty and Sprouty-Related Negative Regulators of FGF Signalling in Prostate Cancer: A Working Hypothesis

(2015) Stephen J. Assinder et al.   Biomed Research International

Association betweenNOGGINandSPRY2polymorphisms and nonsyndromic cleft lip with or without cleft palate

(2014) Tao Song et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Haploinsufficiency ofMEIS2is associated with orofacial clefting and learning disability

(2014) Stefan Johansson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Role of host GTPases in infection byListeria monocytogenes

(2014) Keith Ireton et al.   CELLULAR MICROBIOLOGY

Genetics of cleft lip and/or cleft palate: Association with other common anomalies

(2014) Núria Setó-Salvia et al.   European Journal of Medical Genetics

E3 ubiquitin ligases in regulating stress fiber, lamellipodium, and focal adhesion dynamics

(2014) Shishan Deng et al.   Cell Adhesion & Migration

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

(2013) John C.K. Barber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome

(2013) Kenji Shimizu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetics of cleft lip and cleft palate

(2013) Elizabeth J. Leslie et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Requirement for frzb and fzd7a in cranial neural crest convergence and extension mechanisms during zebrafish palate and jaw morphogenesis

(2013) George Kamel et al.   DEVELOPMENTAL BIOLOGY

A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate

(2013) Giselle Izzo et al.   European Journal of Medical Genetics

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

(2013) Anneke T. Vulto-van Silfhout et al.   European Journal of Medical Genetics

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

(2013) J. K. Rainger et al.   HUMAN MOLECULAR GENETICS

Clinical and epidemiological study of orofacial clefts

(2013) Josiane Souza et al.   Jornal de Pediatria

CYFIP1 Coordinates mRNA Translation and Cytoskeleton Remodeling to Ensure Proper Dendritic Spine Formation

(2013) Silvia De Rubeis et al.   NEURON

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

(2013) Eugene Bragin et al.   NUCLEIC ACIDS RESEARCH

Structural Basis for Autoinhibition of the Guanine Nucleotide Exchange Factor FARP2

(2013) Xiaojing He et al.   STRUCTURE

Ras1 Acts through Duplicated Cdc42 and Rac Proteins to Regulate Morphogenesis and Pathogenesis in the Human Fungal Pathogen Cryptococcus neoformans

(2013) Elizabeth Ripley Ballou et al.   PLoS Genetics

Cleft Lip – A Comprehensive Review

(2013) Mahdi A. Shkoukani et al.   Frontiers in Pediatrics

Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involvingBMP2

(2012) Eli S. Williams et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region

(2012) Eugen-Matthias Strehle et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Overt cleft palate phenotype andTBX1genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

(2012) Sean B. Herman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

(2012) Tom B Davidson et al.   BMC Medical Genetics

Tbx1 regulates oral epithelial adhesion and palatal development

(2012) Noriko Funato et al.   HUMAN MOLECULAR GENETICS

Diagnostic interpretation of array data using public databases and internet sources

(2012) Nicole de Leeuw et al.   HUMAN MUTATION

Protocadherin clusters and cell adhesion kinase regulate dendrite complexity through Rho GTPase

(2012) Lun Suo et al.   Journal of Molecular Cell Biology

Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome

(2012) D Chakraborty et al.   Translational Psychiatry

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

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate

(2011) Trilochan Sahoo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The FGF and FGFR Gene Family and Risk of Cleft Lip with or Without Cleft Palate

(2011) Hong Wang et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Ubiquitination in Rho Signaling

(2011) Feng Ding et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

CD40-Modulated Dual-Specificity Phosphatases MAPK Phosphatase (MKP)-1 and MKP-3 Reciprocally Regulate Leishmania major Infection

(2011) N. Srivastava et al.   JOURNAL OF IMMUNOLOGY

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Cleft lip and palate: understanding genetic and environmental influences

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

Sprouty2 and Spred1-2 Proteins Inhibit the Activation of the ERK Pathway Elicited by Cyclopentenone Prostanoids

(2011) Carlota A. García-Domínguez et al.   PLoS One

Further evidence for the possible role ofMEIS2in the development of cleft palate and cardiac septum

(2010) Moira A. Crowley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sprouty2 controls proliferation of palate mesenchymal cells via fibroblast growth factor signaling

(2010) Kaori Matsumura et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate

(2010) Tiit Nikopensius et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Conditional expression of Spry1 in neural crest causes craniofacial and cardiac defects

(2010) Xuehui Yang et al.   BMC DEVELOPMENTAL BIOLOGY

WAVE2 targeting to phosphatidylinositol 3,4,5-triphosphate mediated by insulin receptor substrate p53 through a complex with WAVE2

(2010) Kazuhide Takahashi et al.   CELLULAR SIGNALLING

The Human Phenotype Ontology

(2010) PN Robinson et al.   CLINICAL GENETICS

Neural crest cell-specific deletion of Rac1 results in defective cell–matrix interactions and severe craniofacial and cardiovascular malformations

(2010) Penny S. Thomas et al.   DEVELOPMENTAL BIOLOGY

Integral roles of a guanine nucleotide exchange factor, FARP2, in osteoclast podosome rearrangements

(2010) Noriko Takegahara et al.   FASEB JOURNAL

Expression of Fgf signalling pathway related genes during palatal rugae development in the mouse

(2010) Thantrira Porntaveetus et al.   GENE EXPRESSION PATTERNS

Fgf9 signalling stimulates Spred and Sprouty expression in embryonic mouse pancreas mesenchyme

(2010) Kathrine B. Sylvestersen et al.   GENE EXPRESSION PATTERNS

FGF2 promotes Msx2 stimulated PC-1 expression via Frs2/MAPK signaling

(2010) Yan Li et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Protein complexes containing CYFIP/Sra/PIR121 coordinate Arf1 and Rac1 signalling during clathrin–AP-1-coated carrier biogenesis at the TGN

(2010) Mihaela Anitei et al.   NATURE 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

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

bFGF Regulates PI3-Kinase-Rac1-JNK Pathway and Promotes Fibroblast Migration in Wound Healing

(2010) Shigeyuki Kanazawa et al.   PLoS One

Critical Issues in Craniofacial Care: Quality of Life, Costs of Care, and Implications of Prenatal Diagnosis

(2009) Ronald P. Strauss et al.   Academic Pediatrics

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

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

Identification of microdeletions in candidate genes for cleft lip and/or palate

(2009) Min Shi et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

TGF-β modulates the functionality of tumor-infiltrating CD8+ T cells through effects on TCR signaling and Spred1 expression

(2009) Maria Giovanna di Bari et al.   CANCER IMMUNOLOGY IMMUNOTHERAPY

Directional control of WAVE2 membrane targeting by EB1 and phosphatidylinositol 3,4,5-triphosphate

(2009) Kazuhide Takahashi et al.   CELLULAR SIGNALLING

The Wnt antagonists Frzb-1 and Crescent locally regulate basement membrane dissolution in the developing primary mouth

(2009) A. J. G. Dickinson et al.   DEVELOPMENT

Association Between Bone Morphogenetic Protein 4 Gene Polymorphisms with Nonsyndromic Cleft Lip with or without Cleft Palate in a Chilean Population

(2009) José Suazo et al.   DNA AND CELL BIOLOGY

The 18q deletion syndrome and analysis of the critical region for orofacial cleft at 18q22.3

(2009) Ales Dostal et al.   JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

(2009) G Spurlock et al.   JOURNAL OF MEDICAL GENETICS

Cleft lip and palate

(2009) Peter A Mossey et al.   LANCET

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng 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

Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations

(2009) T. Nakamura et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

(2009) Ben Langmead et al.   GENOME BIOLOGY

Risk of Oral Clefts in Relation to Prepregnancy Weight Change and Interpregnancy Interval

(2008) E. Villamor et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome?

(2008) Milene Mulatinho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Peters’-plus syndrome is a congenital disorder of glycosylation caused by a defect in the β1,3-glucosyltransferase that modifies thrombospondin type 1 repeats

(2008) Taisto Y. K. Heinonen et al.   ANNALS OF MEDICINE

FGF signals from the nasal pit are necessary for normal facial morphogenesis

(2008) Heather L. Szabo-Rogers et al.   DEVELOPMENTAL BIOLOGY

Clinical variability of the 22q11.2 duplication syndrome

(2008) Christian Wentzel et al.   European Journal of Medical Genetics

Sprouty 2 Regulates DNA Damage-induced Apoptosis in Ras-transformed Human Fibroblasts

(2008) Piro Lito et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2008) Fedik Rahimov et al.   NATURE GENETICS

Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development

(2008) J. Newbern et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA