Brown, Natasha J.

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., et al. (2014) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 720

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Australian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 239

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Guo, H., Zhang, Q., Dai, R., Yu, B., Hoekzema, K., Tan, J., Tan, S., Jia, X., Chung, W. K., Hernan, R., et al. (2020) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 38

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.

Akesson, L. S., Eggers, S., Love, C. J., Chong, B., Krzesinski, E. I., Brown, N. J., Tan, T. Y., Richmond, C. M., Thorburn, D. R., Christodoulou, J., et al. (2019) · European Journal of Human Genetics

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 28

Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure

Richmond, C. M., Campbell, S., Foo, H. W., Lunke, S., Stark, Z., Moody, A., Bannister, E., Greenway, A., & Brown, N. (2020) · Molecular Syndromology

Erythrocyte Function and PathophysiologyHemoglobinopathies and Related Disorders

Cited by 12