Rebecca S. Tooze

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

M. B. Pereira, A. Need, M. Kayikci, 2021, Genetics in Medicine.

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.

R. Quinton, W. Crowley, A. Wilkie, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels

S. Twigg, A. Wilkie, A. Weber, 2023, Genes.

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

S. Twigg, A. Wilkie, F. D’Arco, 2022, Journal of Medical Genetics.

Navigating an early career in genomics and data science, written from the perspective of a current PhD student

Rebecca S. Tooze, 2022, Patterns.

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

N. de Leeuw, S. Twigg, A. Wilkie, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.