J. K. V. van Amstel

The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.

L. H. van den Berg, R. Houwen, K. V. van Erpecum, 2004, Journal of hepatology.

Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.

M. Tilanus, J. K. V. van Amstel, R. Brooimans, 1997, Journal of medical genetics.

A CCA/CCG neutral dimorphism in the codon for Pro 626 of the human protein S gene PS alpha (PROS1).

P. Reitsma, R. Bertina, C. M. Diepstraten, 1991, Nucleic acids research.

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

Juan Arbelaez, R. Akhurst, C. Hughes, 2012, Nature Communications.

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14

A. Balmain, R. Akhurst, D. Jablons, 2015, Front. Genet..

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

Juan Arbelaez, R. Akhurst, C. Hughes, 2012, Nature Communications.