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Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycar... by Ginell N. Ranpura, Mira Holliday, Serena Li, Samantha B. Ross, Emma S. Singer, Stuart T. Fraser, Richard D. Bagnall, Christopher Semsarian, Seakcheng Lim
Published 2025-03-01Get full text
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An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten by Lisa Leinhos, Paul Robinson, Giulia Poloni, Sophie Broadway-Stringer, Julia Beglov, Adam B. Lokman, Gillian Douglas, Sajjad Nuthay, Oveena Fonseka, Manuel Schmid, Evie Singer, Charlotte Hooper, Kate Thomson, Richard D. Bagnall, Jodie Ingles, Christopher Semsarian, Elizabeth Ormondroyd, Christopher N. Toepfer, Benjamin Davies, Charles Redwood, Hugh Watkins, Katja Gehmlich
Published 2025-03-01Get full text
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SUDEP risk is influenced by longevity genomics: a polygenic risk score studyResearch in context by Helena Martins, James D. Mills, Susanna Pagni, Medine I. Gulcebi, Angeliki Vakrinou, Patrick B. Moloney, Lisa M. Clayton, Ravishankara Bellampalli, Hannah Stamberger, Sarah Weckhuysen, Pasquale Striano, Federico Zara, Richard D. Bagnall, Rebekah V. Harris, Kate M. Lawrence, Lynette G. Sadleir, Douglas E. Crompton, Daniel Friedman, Juliana Laze, Ling Li, Samuel F. Berkovic, Christopher Semsarian, Ingrid E. Scheffer, Orrin Devinsky, Karoline Kuchenbaecker, Simona Balestrini, Sanjay M. Sisodiya
Published 2025-08-01Get full text
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