Northrup, Hope

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

Grinberg, I., Northrup, H., Ardinger, H., Prasad, C., Dobyns, W. B., & Millen, K. J. (2004) · Nature Genetics

Fetal and Pediatric Neurological DisordersSpinal Dysraphism and Malformations

Cited by 246

The genomic landscape of tuberous sclerosis complex

Martin, K. R., Zhou, W., Bowman, M. J., Shih, J., Au, K. S., Dittenhafer-Reed, K. E., Sisson, K. A., Koeman, J., Weisenberger, D. J., Cottingham, S. L., et al. (2017) · Nature Communications

Tuberous Sclerosis Complex ResearchCancer Genomics and Diagnostics

Cited by 238

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 143

Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study

Gupta, A., de Bruyn, G., Tousseyn, S., Krishnan, B., Lagae, L., Agarwal, N., Minnesota Epilepsy Group, Frost, M., Sparagana, S., LaJoie, J., et al. (2020) · Pediatric Neurology

Tuberous Sclerosis Complex ResearchEpilepsy research and treatment

Cited by 64

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets: PHEX, FGF23 and DMP1 in hypophosphatemic rickets

Ruppe, M. D., Brosnan, P. G., Au, K. S., Tran, P. X., Dominguez, B. W., & Northrup, H. (2011) · Clinical Endocrinology

Parathyroid Disorders and TreatmentsAlkaline Phosphatase Research Studies

Cited by 62

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration

Au, K. S., Hebert, L., Hillman, P., Baker, C., Brown, M. R., Kim, D.-K., Soldano, K., Garrett, M., Ashley-Koch, A., Lee, S., et al. (2021) · Scientific Reports

Spinal Dysraphism and MalformationsGenomics and Rare Diseases

Cited by 20