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Defining the clinical validity of genes reported to cause pulmonary arterial hypertension

Carrie L. Welch, Micheala A. Aldred, Srimmitha Balachandar, Dennis Dooijes, Christina A. Eichstaedt, Stefan Gräf, Arjan C. Houweling, Rajiv D. Machado, Divya Pandya, Matina Prapa,

Genetics in Medicine · 2023 · 75 citations · 150 references

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150

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

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The Genotype-Tissue Expression (GTEx) project.

PubMed · 2013 · 10K citations · Full text

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2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension

Nazzareno Galiè, Marc Humbert, Jean-Luc Vachiéry et al. · European Heart Journal · 2015 · 7K citations · Full text

, , +15

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

Siddhartha Jaiswal, Pierre Fontanillas, Jason Flannick et al. · New England Journal of Medicine · 2014 · 4.7K citations · Full text

, , +17