Publications — Radcliffe Department of Medicine

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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

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

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

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

TWIGG S. et al, (2020), Bone Research

BMP2 or not BMP2? A SMAD6-related question in craniosynostosis

Calpena E. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1277 - 1278

Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes: overlapping disorders caused by somatic mutations in hedgehog-signalling genes - the mosaic Hedgehog spectrum.

Lovgren ML. et al, (2019), Br J Dermatol

Recurrent mosaic SMO mutation in two patients confirms Happle-Tinschert Syndrome as a variant of Curry-Jones Syndrome

TWIGG STEPHEN. et al, (2019), British Journal of Dermatology

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Calpena E. et al, (2019), Am J Hum Genet, 104, 709 - 720

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.

Goos JAC. et al, (2019), Hum Mol Genet

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Glass GE. et al, (2019), Am J Med Genet A, 179, 615 - 627

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