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Fernandez-Falgueras, Anna
101  results:
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1

Implementing a New Algorithm for Reinterpretation of Ambigu..:

Pérez-Serra, Alexandra ; Toro, Rocío ; Martinez-Barrios, Estefanía...
International Journal of Molecular Sciences.  25 (2024)  7 - p. 3807 , 2024
Link: https://doi.org/10.3390/..
 
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2

The importance of variant reinterpretation in inherited car..:

Fernandez-Falgueras, Anna ; Coll, Monica ; Iglesias, Anna...
PLOS ONE.  19 (2024)  5 - p. e0297914 , 2024
Link: https://doi.org/10.1371/..
 
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3

Investigating cardiac genetic background in sudden infant d..:

Cazzato, Francesca ; Coll, Mònica ; Grassi, Simone...
International Journal of Legal Medicine.  , 2024
Link: https://doi.org/10.1007/..
 
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4

LMNA-related muscular dystrophy: Identification of variants..:

Cesar, Sergi ; Coll, Monica ; Fiol, Victoria...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

Reevaluation of ambiguous genetic variants in sudden unexpl..:

Martinez-Barrios, Estefanía ; Sarquella-Brugada, Georgia ; Perez-Serra, Alexandra...
International Journal of Legal Medicine.  137 (2023)  2 - p. 345-351 , 2023
Link: https://doi.org/10.1007/..
 
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6

Unpredicted Aberrant Splicing Products Identified in Postmo..:

Coll, Monica ; Fernandez-Falgueras, Anna ; Iglesias, Anna...
International Journal of Molecular Sciences.  23 (2022)  20 - p. 12640 , 2022
Link: https://doi.org/10.3390/..
 
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7

Post-mortem toxicology analysis in a young sudden cardiac d..:

Coll, Mònica ; Fernàndez-Falgueras, Anna ; Tiron, Coloma...
Forensic Science International: Genetics.  59 (2022)  - p. 102723 , 2022
Link: https://doi.org/10.1016/..
 
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8

Rare variants in genes encoding structural myocyte contribu..:

Alcalde, Mireia ; Nogué-Navarro, Laia ; Tiron, Coloma...
Forensic Science International: Genetics.  58 (2022)  - p. 102688 , 2022
Link: https://doi.org/10.1016/..
 
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9

Discerning the Ambiguous Role of Missense TTN Variants in I..:

Martínez-Barrios, Estefanía ; Sarquella-Brugada, Georgia ; Pérez-Serra, Alexandra...
Journal of Personalized Medicine.  12 (2022)  2 - p. 241 , 2022
Link: https://doi.org/10.3390/..
 
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10

Malignant Arrhythmogenic Role Associated with RBM20: A Comp..:

Jordà, Paloma ; Toro, Rocío ; Diez, Carles...
Journal of Personalized Medicine.  11 (2021)  2 - p. 130 , 2021
Link: https://doi.org/10.3390/..
 
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11

Pediatric Malignant Arrhythmias Caused by Rare Homozygous G..:

Sarquella-Brugada, Georgia ; Fernandez-Falgueras, Anna ; Cesar, Sergi...
Frontiers in Pediatrics.  8 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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12

Clinical impact of rare variants associated with inherited ..:

Sarquella-Brugada, Georgia ; Fernandez-Falgueras, Anna ; Cesar, Sergi...
Human Genetics.  141 (2021)  10 - p. 1579-1589 , 2021
Link: https://doi.org/10.1007/..
 
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13

Rare Variants Associated with Arrhythmogenic Cardiomyopathy..:

Vallverdú-Prats, Marta ; Alcalde, Mireia ; Sarquella-Brugada, Georgia...
Journal of Personalized Medicine.  11 (2021)  3 - p. 162 , 2021
Link: https://doi.org/10.3390/..
 
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14

Reanalysis and reclassification of rare genetic variants as..:

Campuzano, Oscar ; Sarquella-Brugada, Georgia ; Fernandez-Falgueras, Anna...
EBioMedicine.  54 (2020)  - p. 102732 , 2020
Link: https://doi.org/10.1016/..
 
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15

Sudden Cardiac Death and Copy Number Variants: What Do We K..:

Mates, Jesus ; Mademont-Soler, Irene ; Fernandez-Falgueras, Anna...
Forensic Science International: Genetics.  47 (2020)  - p. 102281 , 2020
Link: https://doi.org/10.1016/..
 
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