Editorial: Advances in craniosynostosis-Basic science to clinical practice.
Moazen M. and Twigg SRF., (2024), J Anat, 245, 813 - 814
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.
Maroofian R. et al, (2024), HGG Adv, 5
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Wood KA. et al, (2024), Am J Hum Genet
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.
Pei Y. et al, (2024), Genes (Basel), 15
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
Watts LM. et al, (2024), Eur J Hum Genet
Reassessing the association: evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis
Walton I. et al, (2024), Journal of Anatomy
Better translation via collaboration: The MRC National Mouse Genetics Network.
Sansom O. et al, (2024), Cell Genom, 4
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
BULLOCK A. et al, (2024), Journal of Medical Genetics
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT. et al, (2023), Genome Med, 15
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS. et al, (2023), Genet Med
Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration.
Vogiatzi A. et al, (2023), Int J Mol Sci, 24
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
Tooze RS. et al, (2023), Genes, 14, 615 - 615
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.
Tooze RS. et al, (2022), J Med Genet
Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome.
Diaz-Gonzalez F. et al, (2022), Front Genet, 13
Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Tooze RS. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 51 - 52
A new locus underlying Auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.
TWIGG S. et al, (2021), Journal of Medical Genetics
The developing mouse coronal suture at single-cell resolution.
Farmer DT. et al, (2021), Nat Commun, 12
Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Calpena E. et al, (2021), Hum Mutat, 42, 811 - 817
Erf affects commitment and differentiation of osteoprogenitor cells in cranial sutures via the retinoic acid pathway.
Vogiatzi A. et al, (2021), Mol Cell Biol