Publications — Radcliffe Department of Medicine

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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

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

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

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

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

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