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Publications

Recent publications published by researchers at the MRC WIMM.

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

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

The developing mouse coronal suture at single-cell resolution

Farmer D. et al, (2021)

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.

Calpena E. et al, (2021), J Med Genet

Genome-wide association (GWAS) meta-analysis of skull bone mineral density identifies determinants of osteoporosis and craniosynostsis

Gomez CM. et al, (2020), JOURNAL OF BONE AND MINERAL RESEARCH, 35, 131 - 131

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Calpena E. et al, (2020), Genet Med, 22

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Calpena E. et al, (2020), Genet Med, 22, 1498 - 1506

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse.

Schwerd T. et al, (2020), Bone Res, 8

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse.

Schwerd T. et al, (2020), Bone Res, 8

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