Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.
Jain K et al.
Journal of Clinical Medicine, 2023
Pulmonary Hypertension Associated Genetic Variants in Sarcoidosis Associated Pulmonary Hypertension.
Groen K et al.
Diagnostics (basel, Switzerland), 2022
Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization.
Agnew C et al.
Nature Communications, 2021
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.
Almazni I et al.
Human Mutation, 2020
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
Hocking JC et al.
Plos Genetics, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture.
Piao C et al.
Clinical Science (london, England : 1979), 2016
Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.
Ricard N et al.
Blood, 2010
Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.
McDonald J et al.
The Journal of Molecular Diagnostics : Jmd, 2009
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.
Lesca G et al.
European Journal of Human Genetics : Ejhg, 2008
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Prigoda NL et al.
Journal of Medical Genetics, 2006
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Abdalla SA et al.
Journal of Medical Genetics, 2006
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
Letteboer TG et al.
Human Genetics, 2005
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
Lesca G et al.
Human Mutation, 2004
Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.
Olivieri C et al.
Journal of Medical Genetics, 2002