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Author/Creator Jager, Joanna

1. Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy. (15th July 2021)

Authors:
Lopes, Luis R; Garcia-Hernández, Soledad; Lorenzini, Massimiliano; Futema, Marta; Chumakova, Olga; Zateyshchikov, Dmitry; Isidoro-Garcia, Maria; Villacorta, Eduardo; Escobar-Lopez, Luis; Garcia-Pavia, Pablo; Bilbao, Raquel; Dobarro, David; Sandin-Fuentes, Maria; Catalli, Claudio; Gener Querol, Bl...
Journal:
European heart journal
Issue:
Volume 42:Number 32(2021)
Page Start:
3063
Record Type:
Journal Article
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2. Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy. (June 2020)

Authors:
Lopes, Luis R.; Barbosa, Pedro; Torrado, Mario; Quinn, Ellie; Merino, Ana; Ochoa, Juan Pablo; Jager, Joanna; Futema, Marta; Carmo-Fonseca, Maria; Monserrat, Lorenzo; Syrris, Petros; Elliott, Perry M.
Journal:
Circulation
Issue:
Volume 13:Number 3(2020)
Page Start:
Record Type:
Journal Article
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3. Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants. (June 2021)

Authors:
Lopes, Luis R.; Murphy, David; Bugiardini, Enrico; Salem, Reem; Jager, Joanna; Futema, Marta; Majid Akhtar, Mohammed; Savvatis, Konstantinos; Woodward, Cathy; Pittman, Alan M.; Hanna, Michael G.; Syrris, Petros; Pitceathly, Robert D.S.; Elliott, Perry M.
Journal:
Circulation
Issue:
Volume 14:Number 3(2021)
Page Start:
Record Type:
Journal Article
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4. Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives: Evidence for a Change in Paradigm. Issue 3 (16th July 2019)

Authors:
Norrish, Gabrielle; Jager, Joanna; Field, Ella; Quinn, Ellie; Fell, Hannah; Lord, Emma; Cicerchia, Marcos N.; Ochoa, Juan Pablo; Cervi, Elena; Elliott, Perry M.; Kaski, Juan Pablo
Journal:
Circulation
Issue:
Volume 140:Issue 3(2019)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗