Hopkin, Robert J.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M.-A., et al. (2017) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 334

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Krone, N., Reisch, N., Idkowiak, J., Dhir, V., Ivison, H. E., Hughes, B. A., Rose, I. T., O'Neil, D. M., Vijzelaar, R., Smith, M. J., et al. (2012) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 163

Loss-or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms

Chung, H.-L., Wangler, M. F., Marcogliese, P. C., Jo, J., Ravenscroft, T. A., Zuo, Z., Duraine, L., Sadeghzadeh, S., Li-Kroeger, D., Schmidt, R. E., et al. (2020) · Neuron

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 154

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

Prada, C. E., Gonzaga-Jauregui, C., Tannenbaum, R., Penney, S., Lupski, J. R., Hopkin, R. J., & Sutton, V. R. (2014) · European Journal of Medical Genetics

Lysosomal Storage Disorders ResearchMetabolism and Genetic Disorders

Cited by 29

Antenatal corticosteroids and newborn screening for congenital adrenal hyperplasia

King, J. L., Naber, J. M., Hopkin, R. J., Repaske, D. R., Bailey, L., & Leslie, N. D. (2001) · Archives of Pediatrics & Adolescent Medicine

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 24