Faculty HHT Publications
McDonald J, Bayrak-Toydemir P, Pyeritz RE. (2011). Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis. Genet Med, 13(7), 607-16.
McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir P. (2011). Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. Clin Genet, 79(4), 335-44.
Best DH, Vaughn C, McDonald J, Damjanovich K, Runo JR, Chibuk JM, Bayrak-Toydemir P. (2011). Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients. J Med Genet, 48(5), 358-60.
McDonald J, Pyeritz R. (2003, 2005, 2009). HHT Profile (an NIH online resource for medical professionals on genetics disorders) [Web]. Available: GeneClinics.org.
McDonald J, Gedge F, Burdette A, Carlisle J, Bukjiok CJ, Fox M, Bayrak-Toydemir P. (2009). Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation. J Mol Diagn, 11(6), 569-75.
Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R. (2009). International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. J Med Genet. (Epub ahead of print).
Bayrak-Toydemir P, McDonald J, Mao R, Phansalkar A, Gedge F, Robles J, Goldgar D, Lyon E. (2008). Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model. Exp Mol Pathol, 85(1), 45-9.
Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, Lyon E, Bayrak-Toydemir P. (2007). Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. J Mol Diagn, 9(2), 258-65.
Bayrak-Toydemir, P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tunicali T, Tang W, Miller F, Mao R. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. 2006. Am J Med Genet Part A 140A:2155-2162
Bayrak-Toydemir P, McDonald J (co-first authors), Markewitz B, Lewin S, Miller F, Chou L, Gedge F, Tay W, Coon H, Mao R, Genotype-Phenotype Correlation in Hereditary Hemorrhagic Telangiectasia: Mutations and Manifestations. 2006. Am J Med Genet. 140: 463-470.
McDonald J, Bayrak-Toydemir P. Hereditary Hemorrhagic Telangiectasia- Invited Editorial and Perspective. 2005. Haematologica. 90(6): 728-732.
Silverstein S, Rodgers G. Parenteral Iron Therapy Options. 2004. American Journal of Hematology. 76:74-78.
Bayrak-Toydemir P, Mao R, Lewin S, McDonald J. Hereditary Hemorrhagic Telangiectasia: An Overview of Diagnosis and Management in the Molecular Era for Clinicians. 2004. Genetics in Medicine 6(4): 175-191.
Abdalla S, Geisthoff U, Plauchu H, Bonneau D, McDonald J, Kennedy S, Faughnan M, Letarte M. Visceral Manifestations in hereditary hemorrhagic telangiectasia type 2. 2003. American Journal of Medical Genetics. 40:494-502.
Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, Madan A, Barnes P, Hudgins L, Manning M. Intracranial Hemorrhage in Infants and Children with Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome). 2002. Pediatrics 109(1).
McDonald JE, Miller FJ, Hallam SE, Nelson L, Marchuk DA, Ward KJ. Clinical Manifestations in a Large Hereditary Hemorrhagic Telangiectasia (HHT) Type 2 Kindred. 2000. American Journal of Medical Genetics 93:320-327.
