Publications — Radcliffe Department of Medicine

Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

Tooze RS. et al, (2023), Genet Med

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

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.

Lippincott MF. et al, (2022), Genet Med

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

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Tessadori F. et al, (2022), Am J Hum 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

Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

Calpena E. et al, (2021), Hum Mutat, 42, 811 - 817

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

van Woerden GM. et al, (2021), Hum Mutat

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

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

Chatron N. et al, (2020)

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Tolchin D. et al, (2020), Am J Hum Genet, 106, 830 - 845

amplimap: a versatile tool to process and analyze targeted NGS data.

Koelling N. et al, (2020), Bioinformatics, 36

amplimap: a versatile tool to process and analyze targeted NGS data.

Koelling N. et al, (2019), Bioinformatics, 35, 5349 - 5350

How to detect mobile retrocopies during routine genetic testing and manage pitfalls

Chatron N. et al, (2019), MOLECULAR CYTOGENETICS, 12

Identification of mobile retrocopies during genetic testing: consequences for routine diagnosis.

Chatron N. et al, (2019), Hum Mutat

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

Load More

Include forthcoming?