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Whole Genome Sequencing Delineates Regulatory, Copy Number, and Cryptic Splice Variants in Early Onset Cardiomyopathy

Robert Lesurf,Abdelrahman Said,Oyediran Akinrinade,Jeroen Breckpot, Kathleen Delfosse,Ting Liu,Roderick Yao, Gabrielle Persad,Fintan McKenna,Ramil R. Noche,Winona Oliveros,Kaia Mattioli, Shreya Shah,Anastasia Miron, Qian Yang,Guoliang Meng,Michelle Chan Seng Yue,Wilson W. L. Sung,Bhooma Thiruvahindrapuram,Jane Lougheed,Erwin Oechslin,Tapas Mondal,Lynn Bergin,John Smythe,Shashank Jayappa,Vinay J. Rao,Jayaprakash Shenthar,Perundurai S. Dhandapany,Christopher Semsarian,Robert G. Weintraub,Richard D. Bagnall,Jodie Ingles,J. C. Ambrose,Marta Melé,Philipp G. Maass,James Ellis,Stephen W. Scherer,Seema Mital

npj Genomic Medicine（2022）

Cited 22|Views55
Key words
Gene regulation,Genetic testing,Paediatric research,Biomedicine,general,Human Genetics,Internal Medicine,Bioinformatics,Gene Therapy,Gene Function
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