Concepedia

Frequency of de novo variants and parental mosaicism in vascular Ehlers–Danlos syndrome

Anne Debost‐Legrand, Magali Devriese, Sophie Dupuis‐Girod, Christophe Simian, Annabelle Vénisse, J.‐M. Mazzella, Karine Auribault, Salma Adham, Michael Frank, Juliette Albuisson,

Genetics in Medicine · 2018 · 31 citations · 22 references

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22

Rate of de novo mutations and the importance of father’s age to disease risk

Augustine Kong, Michael L. Frigge, Gísli Másson et al. · Nature · 2012 · 2.3K citations

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The 2017 international classification of the Ehlers–Danlos syndromes

Fransiska Malfait, Clair A. Francomano, Peter H. Byers et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 1.9K citations · Full text

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Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type

Melanie Pepin, Ulrike Schwarze, Andrea Superti‐Furga et al. · New England Journal of Medicine · 2000 · 1.3K citations · Full text

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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Jennifer E. Posey, Tamar Harel, Pengfei Liu et al. · New England Journal of Medicine · 2016 · 775 citations · Full text

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Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wüster, Sarah Lindsay et al. · Nature Genetics · 2015 · 729 citations · Full text

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