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Journal of Medical Genetics|April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
European Heart Journal|March 6, 2026
Laminopathies: natural history and risk prediction of heart failurePhilippe Charron, Julie Proukhnitzky, Rabah Ben Yaou, et al.
The Journal of Experimental Medicine|October 1, 2024
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseasesJérémie Rosain, Tom Le Voyer, Xian Liu, et al.
Circulation|June 4, 2019
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in LaminopathiesKarim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.
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