| Q26784240 | A Genetic-Pathophysiological Framework for Craniosynostosis |
| Q91853918 | A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis |
| Q54307803 | A novel mutation in FGFR2. |
| Q64234268 | A systematic approach in the diagnosis of paediatric skull lesions: what radiologists need to know |
| Q36597395 | Activation of the IGF1 pathway mediates changes in cellular contractility and motility in single-suture craniosynostosis |
| Q90091437 | Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis |
| Q58116780 | Altered bone growth dynamics prefigure craniosynostosis in a zebrafish model of Saethre-Chotzen syndrome |
| Q89686687 | An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription |
| Q34538016 | Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome |
| Q35949127 | Application of Laser Capture Microdissection to Craniofacial Biology: Characterization of Anatomically Relevant Gene Expression in Normal and Craniosynostotic Rabbit Sutures |
| Q52315155 | BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche. |
| Q42018674 | BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development |
| Q40006898 | BCL11B regulates sutural patency in the mouse craniofacial skeleton |
| Q58574792 | Bilambdoid and sagittal synostosis: Report of 39 cases |
| Q55057321 | Boston type craniosynostosis: report of a second mutation in MSX2. |
| Q92148399 | Cell Mechanics of Craniosynostosis |
| Q40843083 | Choice of transcripts and software has a large effect on variant annotation |
| Q47796796 | Clinical genetics of craniosynostosis |
| Q34508300 | Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations |
| Q39866746 | Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis |
| Q35809894 | Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. |
| Q56261911 | Co-occurrence of frameshift mutations in and in a child with complex craniosynostosis |
| Q91013857 | Controversies around epithelial-mesenchymal plasticity in cancer metastasis |
| Q44781599 | Craniofacial shape variation in Twist1+/- mutant mice |
| Q47552779 | Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling |
| Q34431180 | De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. |
| Q41614223 | De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. |
| Q58613897 | Deviating dental arch morphology in mild coronal craniosynostosis syndromes |
| Q37720856 | Diagnostic value of exome and whole genome sequencing in craniosynostosis |
| Q42452349 | Difference in apical and basal growth of the frontal bone primordium in Foxc1ch/ch mice |
| Q56261672 | Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome |
| Q37022651 | Dissection of the complex genetic basis of craniofacial anomalies using haploid genetics and interspecies hybrids in Nasonia wasps |
| Q64237615 | ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome |
| Q35722092 | Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants |
| Q39067864 | Exploring the Underlying Genetics of Craniofacial Morphology through Various Sources of Knowledge |
| Q36147983 | Factors influencing success of clinical genome sequencing across a broad spectrum of disorders |
| Q47166239 | Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis |
| Q46839697 | Filling in the gaps in cranial suture biology |
| Q56320208 | Further insights into the genetic basis of craniosynostosis |
| Q36044883 | Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability |
| Q93043673 | Genetic Causes of Craniosynostosis: An Update |
| Q52795305 | Genetic advances in craniosynostosis. |
| Q42757721 | Genetics of tooth agenesis: how to move the field forward |
| Q36685471 | Genomic dynamics associated with malignant transformation in IDH1 mutated gliomas |
| Q38446069 | Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. |
| Q55154023 | High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development. |
| Q37105557 | Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis. |
| Q41127362 | Identification of stiffness-induced signalling mechanisms in cells from patent and fused sutures associated with craniosynostosis |
| Q28596914 | Language Impairments in ASD Resulting from a Failed Domestication of the Human Brain |
| Q36027711 | Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques |
| Q53061505 | Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability. |
| Q36877141 | Molecular Analysis of Twist1 and FGF Receptors in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin |
| Q37609839 | Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells |
| Q92335524 | Molecular mechanisms underlying nuchal hump formation in dolphin cichlid, Cyrtocara moorii |
| Q93043710 | Mouse Models of Syndromic Craniosynostosis |
| Q40621425 | MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing |
| Q33813000 | Neural crest cell signaling pathways critical to cranial bone development and pathology |
| Q28088384 | New insights into craniofacial malformations |
| Q39214917 | Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within Gremlin-1, a component of the bone morphogenetic protein 4 pathway |
| Q56261658 | Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation |
| Q64905120 | On the traces of tcf12: Investigation of the gene expression pattern during development and cranial suture patterning in zebrafish (Danio rerio). |
| Q38758783 | Prenatal ultrasound parameters in single-suture craniosynostosis |
| Q33642091 | Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes. |
| Q36377263 | Reconstructing context-specific gene regulatory network and identifying modules and network rewiring through data integration |
| Q50701179 | Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice. |
| Q36635154 | Relapse after Allogeneic Hematopoietic Cell Transplantation for Myelodysplastic Syndromes: Analysis of Late Relapse Using Comparative Karyotype and Chromosome Genome Array Testing |
| Q83225440 | Resolving homology in the face of shifting germ layer origins: Lessons from a major skull vault boundary |
| Q56266841 | Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: clinical evidence of crosslink between FGFR and RAS signaling pathways |
| Q61809349 | Signaling Mechanisms Underlying Genetic Pathophysiology of Craniosynostosis |
| Q35587493 | Signaling pathways in osteogenesis and osteoclastogenesis: Lessons from cranial sutures and applications to regenerative medicine. |
| Q93043682 | Structural Genome Variations Related to Craniosynostosis |
| Q93043725 | Syndromic Craniosynostosis: Complexities of Clinical Care |
| Q35813648 | TCF12 is mutated in anaplastic oligodendroglioma |
| Q54911471 | TCF12 microdeletion in a 72-year-old woman with intellectual disability. |
| Q90194954 | TWIST1 Heterodimerization with E12 Requires Coordinated Protein Phosphorylation to Regulate Periostin Expression |
| Q90369834 | TWIST1 homodimers and heterodimers orchestrate lineage-specific differentiation |
| Q39441833 | Tcf12, A Member of Basic Helix-Loop-Helix Transcription Factors, Mediates Bone Marrow Mesenchymal Stem Cell Osteogenic Differentiation In Vitro and In Vivo. |
| Q94464926 | Temporal transcriptome analysis of neuronal commitment reveals the preeminent role of the divergent lncRNA biotype and a critical candidate gene during differentiation |
| Q38197296 | The dentition: the outcomes of morphogenesis leading to variations of tooth number, size and shape |
| Q38586076 | The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders. |
| Q89500866 | Transcriptional landscape of myogenesis from human pluripotent stem cells reveals a key role of TWIST1 in maintenance of skeletal muscle progenitors |
| Q38149843 | Translational genetics: advancing fronts for craniofacial health |
| Q39829901 | Twist1 induces distinct cell states depending on TGFBR1-activation |
| Q64271315 | Two novel variants in the gene identified in cases with craniosynostosis |
| Q100565852 | USF3 modulates osteoporosis risk by targeting WNT16, RANKL, RUNX2 and two GWAS lead SNPs rs2908007 and rs4531631 |
| Q37014071 | Understanding craniosynostosis as a growth disorder |