常染色体显性ALPK3功能缺失变异作为肥厚性心肌病病因的临床有效性

IF 6 2区医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS

Circulation: Genomic and Precision Medicine Pub Date : 2025-04-21 DOI:10.1161/CIRCGEN.124.004976

Sophie Hespe, Emma S Singer, Chloe Reuter, Brittney Murray, Elizabeth Jordan, Jessica Chowns, Stacey Peters, Megan Mayers, Belinda Gray, Ray E Hershberger, Anjali Owens, Christopher Semsarian, Amber Waddell, Babken Asatryan, Emma Owens, Courtney Thaxton, Mhy-Lanie Adduru, Kailyn Anderson, Emily E Brown, Lily Hoffman-Andrews, Fergus Stafford, Richard D Bagnall, Lucas Bronicki, Bert Callewaert, C Anwar A Chahal, Cynthia A James, Olga Jarinova, Andrew P Landstrom, Elizabeth M McNally, Laura Muiño-Mosquera, Victoria Parikh, Roddy Walsh, Bess Wayburn, James S Ware, Benjamin L Parker, Enzo R Porrello, David A Elliott, James W McNamara, Jodie Ingles

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Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy.

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来源期刊

Circulation: Genomic and Precision Medicine Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

9.20

自引率

5.40%

发文量

144

期刊介绍： Circulation: Genomic and Precision Medicine is a distinguished journal dedicated to advancing the frontiers of cardiovascular genomics and precision medicine. It publishes a diverse array of original research articles that delve into the genetic and molecular underpinnings of cardiovascular diseases. The journal's scope is broad, encompassing studies from human subjects to laboratory models, and from in vitro experiments to computational simulations. Circulation: Genomic and Precision Medicine is committed to publishing studies that have direct relevance to human cardiovascular biology and disease, with the ultimate goal of improving patient care and outcomes. The journal serves as a platform for researchers to share their groundbreaking work, fostering collaboration and innovation in the field of cardiovascular genomics and precision medicine.