Recent publications published by researchers at the MRC WIMM.
Reassessing the association: evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis
Journal article
Walton I. et al, (2024), Journal of Anatomy
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
Journal article
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.
Journal article
Kilcoyne S. et al, (2024), J Craniofac Surg
Population screening requires robust evidence-genomics is no exception.
Journal article
Turnbull C. et al, (2024), Lancet, 403, 583 - 586
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
Journal article
BULLOCK A. et al, (2024), Journal of Medical Genetics
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Journal article
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.
Journal article
Pagnamenta AT. et al, (2023), Genome Med, 15
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Journal article
Tooze RS. et al, (2023), Genet Med
Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration.
Journal article
Vogiatzi A. et al, (2023), Int J Mol Sci, 24
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
Journal article
Tooze RS. et al, (2023), Genes, 14, 615 - 615
Mendelian inheritance revisited: dominance and recessiveness in medical genetics.
Journal article
Zschocke J. et al, (2023), Nat Rev Genet
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Journal article
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.
Journal article
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.
Journal article
Lippincott MF. et al, (2022), Genet Med
Whole genome sequencing of ‘mutation-negative’ individuals with Cornelia de Lange Syndrome
Preprint
Ansari M. et al, (2022)
Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.
Journal article
Care H. et al, (2022), J Craniofac Surg
Gregor Mendel and the concepts of dominance and recessiveness.
Journal article
Zschocke J. et al, (2022), Nat Rev Genet
Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis
Journal article
Justice CM. et al, (2022), Genes, 13, 816 - 816
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Journal article
Tessadori F. et al, (2022), Am J Hum Genet
Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Conference paper
Tooze RS. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 51 - 52