Rawley O, Swystun LL, Brown C, Nesbitt K, Rand M, Hossain T, Klassen R, James PD, Carcao MD, Lillicrap D. Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defect. Blood Advances. 2022. May; 6(9):2908-2919.

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Lassalle F, Jourdy Y, Jouan L, Swystun L, Gauthier J, Zawadzki C, Goudemand J, Susen S, Rivard GE, Lillicrap D. The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole F8 gene sequencing and functional assays. Haemophilia. 2020 Nov;26(6):1056-1063.

 

Jourdy Y, Fretigny M, Lassalle F, Lillicrap D, Negrier C, Vinciguerra C.  The highly prevalent deletions in F8 intron 13 found in French mild hemophilia A patients result from both founder effect and recurrent de novo events.  J Thromb Haem. 2020. May;18(5):1087-1093.

J Thromb Haem

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Swystun LL, and James P.  Using Genetic Diagnostics in Hemophilia and von Willebrand Disease.  Review. Hematology Am Soc Hematol Educ Program.   2015 Dec;(1):152-9.

 

Rydz N, Leggo J, Tinlin S, James PD, Lillicrap D. The Canadian "National Program for hemophilia mutation testing" database: a ten-year review. Am J Hematol. 2013 Dec;88(12):1030-4.

 

James PD, Lillicrap D.  The molecular characterization of von Willebrand disease: good in parts.  Br J Haematol. 2013 Apr;161(2):166-76.

 

Bowman M, Tuttle A, Notley C, Brown C, Tinlin S, Deforest M, Leggo J, Blanchette VS, Lillicrap D, James P. Association of Hemophilia Clinic Directors of Canada. The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.  J Thromb Haemost. 2013 Mar;11(3)512-20.

 

James PD, Lillicrap D. The diagnosis and management of von Willebrand disease in Canada.  Semin Thromb Hemost. 2011 July;37(5):522-7.

 

Robertson JD, Yenson PR, Rand ML, Blanchette VS, Carcao MD, Notley C, Lillicrap D, James PD.  Expanded phenotype-genotype correlations in a pediatric population with type 1 von Willebrand disease.  J Thromb Haem. 2011 Sep;9(9):1752-60.

 

James PD, Notely C, Hegadorn C, Poon MC, Walker I, Rapson D, Lillicrap D.  Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study.  J Thromb Haemost. 2007 Sep;5(9):1914-22.

 

James PD, Notely C, Hegadorn C, Leggo J, Tuttle A, Tinlin S, Brown C, Andrews C, Labelle A, Chirinian Y, O’Brien L, Othman M, Rivard G, Rapsori D, Hough C, Lillicrap D.  The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. Blood. 2007 Jan 1;109(1):145-54.

 

James PD, Paterson AD, Notley C, Cameron C, Hegadorn C, Tinlin S, Brown C, O’Brien L, Leggo J, Lillicrap D, Association of hemophilia clinical directors of Canada. Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian type 1 VWD study.  J Thromb Haemost.  2006 Apr;4(4):783-92.