Percy, Melanie J.

A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis

Percy, M. J., Zhao, Q., Flores, A., Harrison, C., Lappin, T. R. J., Maxwell, P. H., McMullin, M. F., & Lee, F. S. (2006) · Proceedings of the National Academy of Sciences

Erythropoietin and Anemia TreatmentCancer, Hypoxia, and Metabolism

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A Gain-of-Function Mutation in the HIF2A Gene in Familial Erythrocytosis

Percy, M. J., Furlow, P. W., Lucas, G. S., Li, X., Lappin, T. R. J., McMullin, M. F., & Lee, F. S. (2008) · New England Journal of Medicine

Erythropoietin and Anemia TreatmentCancer, Hypoxia, and Metabolism

Cited by 314

Mutation of von Hippel–Lindau Tumour Suppressor and Human Cardiopulmonary Physiology

Smith, T. G., Brooks, J. T., Balanos, G. M., Lappin, T. R., Layton, D. M., Leedham, D. L., Liu, C., Maxwell, P. H., McMullin, M. F., McNamara, C. J., et al. (2006) · PLoS Medicine

High Altitude and HypoxiaPulmonary Hypertension Research and Treatments

Cited by 182

The HIF pathway and erythrocytosis

Lee, F. S., & Percy, M. J. (2011) · Annual Review of Pathology Mechanisms of Disease

Erythropoietin and Anemia TreatmentCancer, Hypoxia, and Metabolism

Cited by 177

A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove

Percy, M. J., Furlow, P. W., Beer, P. A., Lappin, T. R. J., McMullin, M. F., & Lee, F. S. (2007) · Blood

Erythropoietin and Anemia TreatmentCancer, Hypoxia, and Metabolism

Cited by 155

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

Percy, M. J., Beer, P. A., Campbell, G., Dekker, A. W., Green, A. R., Oscier, D., Rainey, M. G., van Wijk, R., Wood, M., Lappin, T. R. J., et al. (2008) · Blood

Erythropoietin and Anemia TreatmentCancer, Hypoxia, and Metabolism

Cited by 127

Cardiopulmonary function in two human disorders of the hypoxia‐inducible factor (HIF) pathway: von Hippel‐Lindau disease and HIF‐2α gain‐of‐function mutation

Formenti, F., Beer, P. A., Croft, Q. P. P., Dorrington, K. L., Gale, D. P., Lappin, T. R. J., Lucas, G. S., Maher, E. R., Maxwell, P. H., McMullin, M. F., et al. (2011) · The FASEB Journal

Cancer, Hypoxia, and MetabolismPulmonary Hypertension Research and Treatments

Cited by 92

Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry

Percy, M. J., McMullin, M. F., Jowitt, S. N., Potter, M., Treacy, M., Watson, W. H., & Lappin, T. R. J. (2003) · Blood

Erythropoietin and Anemia TreatmentMyeloproliferative Neoplasms: Diagnosis and Treatment

Cited by 90

The worldwide distribution of the VHL 598C>T mutation indicates a single founding event

Liu, E., Percy, M. J., Amos, C. I., Guan, Y., Shete, S., Stockton, D. W., McMullin, M. F., Polyakova, L. A., Ang, S. O., Pastore, Y. D., et al. (2004) · Blood

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 66

Erythrocytosis-associated HIF-2α Mutations Demonstrate a Critical Role for Residues C-terminal to the Hydroxylacceptor Proline

Furlow, P. W., Percy, M. J., Sutherland, S., Bierl, C., McMullin, M. F., Master, S. R., Lappin, T. R. J., & Lee, F. S. (2009) · Journal of Biological Chemistry

Erythropoietin and Anemia TreatmentCancer, Hypoxia, and Metabolism

Cited by 58

Erythrocytosis associated with a novel missense mutation in the HIF2A gene

van Wijk, R., Sutherland, S., Van Wesel, A. C. W., Huizinga, E. G., Percy, M. J., Bierings, M., & Lee, F. S. (2010) · Haematologica

Erythropoietin and Anemia TreatmentCancer, Hypoxia, and Metabolism

Cited by 38

Two new mutations in the HIF2A gene associated with erythrocytosis

Percy, M. J., Chung, Y. J., Harrison, C., Mercieca, J., Hoffbrand, A. V., Dinardo, C. L., Santos, P. C. J. L., Fonseca, G. H. H., Gualandro, S. F. M., Pereira, A. C., et al. (2012) · American Journal of Hematology

Erythropoietin and Anemia TreatmentCancer, Hypoxia, and Metabolism

Cited by 37

Erythrocytosis and the Chuvash von Hippel-Lindau mutation

Percy, M. J., Beard, M. E. J., Carter, C., & Thein, S. L. (2003) · British Journal of Haematology

Ear and Head TumorsErythropoietin and Anemia Treatment

Cited by 8