Publications — Radcliffe Department of Medicine

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SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Wood KA. et al, (2024), Am J Hum Genet

A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.

Pei Y. et al, (2024), Genes (Basel), 15

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.

Watts LM. et al, (2024), Eur J Hum Genet

Reassessing the association: evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis

Walton I. et al, (2024), Journal of Anatomy

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.

Luyckx I. et al, (2024), J Med Genet, 61, 363 - 368

Speech and Language Development, Hearing, and Feeding in Patients With Genetically Confirmed Crouzon Syndrome With Acanthosis Nigricans: A 36-Year Longitudinal Retrospective Review of Patients at the Oxford Craniofacial Unit.

Kilcoyne S. et al, (2024), J Craniofac Surg

Population screening requires robust evidence-genomics is no exception.

Turnbull C. et al, (2024), Lancet, 403, 583 - 586

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

BULLOCK A. et al, (2024), Journal of Medical Genetics

Introduction: Professor Gillian Morriss-Kay DSc

Iseki S. and Wilkie AOM., (2024), Journal of Anatomy

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, 60, 1235 - 1244

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

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

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