McGillivray, George

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Marsh, A. P. L., Heron, D., Edwards, T. J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M.-L., Anderson, V., Bitoun, P., et al. (2017) · Nature Genetics

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 101

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

McGillivray, G., Savarirayan, R., Cox, T. C., Stojkoski, C., McNeil, R., Bankier, A., Bateman, J. F., Roscioli, T., Gardner, R. J. M., & Lamandé, S. R. (2005) · Journal of Medical Genetics

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 34

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

Beecroft, S. J., Ayala, M., McGillivray, G., Nanda, V., Agolini, E., Novelli, A., Digilio, M. C., Dotta, A., Carrozzo, R., Clayton, J., et al. (2021) · Human Mutation

Genomics and Rare DiseasesCongenital heart defects research

Cited by 25

Preventing female virilisation in congenital adrenal hyperplasia: the controversial role of antenatal dexamethasone

Heland, S., Hewitt, J. K., McGillivray, G., & Walker, S. P. (2016) · Australian and New Zealand Journal of Obstetrics and Gynaecology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 16