Concepedia
Statistics
Publications
6
Citations
571
H-Index
Active since
2014
Affiliations
Hospital Luis Calvo Mackenna(Current)
Pontificia Universidad Católica de Chile
University of Florence
University of California, San Francisco
Pediatrics and Genetics
Mariana Aracena is an author at Hospital Luis Calvo Mackenna specializing in molecular genetics, genetics, and life sciences.
Publications per year
2014–2024
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
Margaret J. McMillin, Anita E. Beck, Jessica X. Chong et al. · The American Journal of Human Genetics · 2014 · 218 citations · Full text
Life Sciences, Genetics, Molecular Genetics +4
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 190 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Rocío Acuña‐Hidalgo, Pelagia Derizioti, Marloes Steehouwer et al. · PLoS Genetics · 2017 · 71 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”
Chae Syng Lee, He Fu, Nissan Baratang et al. · The American Journal of Human Genetics · 2017 · 60 citations · Full text
Medicine, Genetics, Molecular Genetics +12
<i>RAF1</i> variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis
Fernándo Rodríguez, Diana Ponce, Francisco J. Berward et al. · American Journal of Medical Genetics Part A · 2019 · 16 citations · Full text
Medicine, Molecular Medicine, Pediatrics +13
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