Author

Carolina Pardo

Invitae (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Amanda B. SpurdleiD· 1 shared Arjen R. MensenkampiD· 1 shared Brian H. ShirtsiD· 1 shared Bryony A. ThompsoniD· 1 shared Carla OliveíraiD· 1 shared Chimene A. KesserwaniD· 1 shared Grace‐Ann FasayeiD· 1 shared Huei San Leong· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amanda B. SpurdleORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

ClinGen CDH1 specifications for the ACMG/AMP guidelines: improvement of germline variant clinical assertions and updated curation guidelines

Xi Luo, Jamie L. Maciaszek, Bryony A. Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E. Roberts, Kristy Lee, Amanda B. Spurdle, Arjen R. Mensenkamp, Terra Brannan, Carolina Pardo, Liying Zhang, Tina F. Pesaran, , Rachid Karam

The paper updates CDH1 variant curation guidelines to resolve conflicting interpretations and reduce variants of uncertain significance for clinical use.

medRxiv · Nov 1, 2021 · PreprintGenetic & Genomic Medicine