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

Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.

Moore AR. et al, (2023), J Med Genet

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

Mendelian inheritance revisited: dominance and recessiveness in medical genetics.

Zschocke J. et al, (2023), Nat Rev Genet

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Bernkopf M. et al, (2023), Nat Commun, 14

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

Whole genome sequencing of ‘mutation-negative’ individuals with Cornelia de Lange Syndrome

Ansari M. et al, (2022)

Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.

Care H. et al, (2022), J Craniofac Surg

Gregor Mendel and the concepts of dominance and recessiveness.

Zschocke J. et al, (2022), Nat Rev Genet

Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis

Justice CM. et al, (2022), Genes, 13, 816 - 816

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

The contribution of X-linked coding variation to severe developmental disorders

Martin HC. et al, (2021), Nature Communications, 12

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

100,000 Genomes Project Pilot Investigators None. et al, (2021), N Engl J Med, 385, 1868 - 1880

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.

Hyder Z. et al, (2021), Genet Med

The developing mouse coronal suture at single-cell resolution.

Farmer DT. et al, (2021), Nat Commun, 12

A biallelic GINS2 variant, p.(Arg114Leu), causes Meier-Gorlin syndrome with craniosynostosis

WILKIE A. et al, (2021), Journal of Medical Genetics

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