Publications — Radcliffe Department of Medicine

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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

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

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

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.

Shahin T. et al, (2019), Haematologica, 104, 609 - 621

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1.

Romanelli Tavares VL. et al, (2019), Mol Syndromol, 10, 40 - 47

A dominant-negative mutation in the BTB domain of KCTD15 in a family with frontal lipoma, congenital heart disease and cutis aplasia of the scalp defines a novel syndrome

Miller KA. et al, (2018), EUROPEAN JOURNAL OF HUMAN GENETICS, 26, 233 - 234

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

Zhou Y. et al, (2018), Hum Mutat, 39, 1360 - 1365

Mosaic SMO mutation in a patient with linear basal follicular hamartomas confirms Happle-Tinschert syndrome as a variant of Curry-Jones syndrome

Lovgren M-L. et al, (2018), BRITISH JOURNAL OF DERMATOLOGY, 179, 78 - 79

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