Author

Heather Zimmermann

Ambry Genetics (United States)ORCID 0009-0001-8442-9159Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Organism:human· 1 Research Focus:software / tool· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alain CarriéiD· 1 shared Alexander Y. Tchourbanov· 1 shared Alexandre C. PereiraiD· 1 shared Alicia B. ByrneiD· 1 shared Amanda B. SpurdleiD· 1 shared Amanda J. HooperiD· 1 shared Amanda S. LindyiD· 1 shared Annette LeoniD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alain CarriéORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 24, 2023

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins…·Amanda B. Spurdle

The paper refines ACMG/AMP splicing variant classification codes using empirical evidence to improve consistency in variant pathogenicity classification.

20 citations

statistical modelvariant effect prediction

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedNov 30, 2021

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý…·Mafalda Bourbon

The paper provides consensus guidelines for classifying LDLR variants in Familial Hypercholesterolemia using modified ACMG/AMP criteria.

170 citationstop 1%

humanwhole-exome sequencing

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