Associated Papers
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.
Zhu N et al.
Circulation. Genomic and Precision Medicine, 2018
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis.
Ma L et al.
The Application of Clinical Genetics, 2015
Genetics of pulmonary hypertension.
Best DH et al.
Current Opinion in Cardiology, 2014
EIF2AK4 mutations in pulmonary capillary hemangiomatosis.
Best DH et al.
Chest, 2014
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