Author

Christina A. Eichstaedt

Heidelberg UniversityORCID 0000-0001-7288-8297Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Approach:Bayesian inference· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Carrie L. WelchiD· 3 shared Laura SouthgateiD· 3 shared Mélanie EyriesiD· 3 shared Rajiv D. MachadoiD· 3 shared Stefan GräfiD· 3 shared Wendy K. ChungiD· 3 shared Allan LawrieiD· 2 shared Anton Vonk NoordegraafiD· 2 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Carrie L. WelchORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineHuman MutationPeer-reviewedJan 1, 2025

Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar.

Christina A. Eichstaedt, Gabriel Maldonado-Velez, Rajiv D. Machado…·Micheala A. Aldred

The paper develops adapted ACMG/AMP guidelines for classifying BMPR2 variants in PAH, resolving 66% of uncertain variants as benign or likely benign.

5 citations

humanstatistical model

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJul 5, 2023

Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension

Carrie L. Welch, Micheala A. Aldred, Srimmitha Balachandar…·Dmitry A. Zateyshchikov

This paper classifies PAH-related genes based on evidence strength using a semi-quantitative scoring system, identifying twelve genes with definitive evidence and recommending their inclusion in genetic testing panels.

83 citationstop 1%

humanstatistical model

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GeneticsCirculation Genomic and Precision MedicinePeer-reviewedDec 15, 2020

Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

Emilia M. Swietlik, Daniel J. Greene, Na Zhu…·Rachel J. Buchan

49 citationstop 4%

humanwhole-genome sequencing

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