E. Briggs

Characterization of a family mutation in the 5’ untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia

P. Bayrak-Toydemir, M. Chesnutt, J. McDonald, 2019, Journal of Human Genetics.

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Brendan D. O'Fallon, G. Marth, A. Farrell, 2019, Genetics in Medicine.

Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia

Gabor T. Marth, G. Marth, A. Farrell, 2018, Journal of Medical Genetics.

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Brendan D. O'Fallon, Gabor T. Marth, M. Hannibal, 2019, Genetics in Medicine.