Wharton, John

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Gräf, S., Haimel, M., Bleda, M., Hadinnapola, C., Southgate, L., Li, W., Hodgson, J., Liu, B., Salmon, R. M., Southwood, M., et al. (2018) · Nature Communications

Pulmonary Hypertension Research and TreatmentsVascular Anomalies and Treatments

Cited by 380

Angiotensin converting enzyme in human synovium: increased stromal [125I]351A binding in rheumatoid arthritis

Walsh, D. A., Catravas, J., & Wharton, J. (2000) · Annals of the Rheumatic Diseases

Rheumatoid Arthritis Research and TherapiesRenin-Angiotensin System Studies

Cited by 57

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 41

Myocardial localization and isoforms of neural cell adhesion molecule (N-CAM) in the developing and transplanted human heart

Gordon, L., Wharton, J., Moore, S. E., Walsh, F. S., Moscoso, J. G., Penketh, R., Wallwork, J., Taylor, K. M., Yacoub, M. H., & Polak, J. M. (1990) · Journal of Clinical Investigation

Cell Adhesion Molecules ResearchCongenital heart defects research

Cited by 31