🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Heather Zimmermann

Ambry Genetics (United States)

ORCID: 0009-0001-8442-9159
Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile
0Author DataRank

Indexed papers

0in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 4 papers. Top paper: “The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification”.

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

Genetics in Medicine(2021)10.1016/j.gim.2021.09.012
N/A
0DataRank · unranked
168 citations

Michael A. Iacocca, Lukáš Tichý, Hannah Wand, C. Lisa Kurtz, Heather Zimmermann +23 more

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

medRxiv(2021)10.1101/2021.03.17.21252755
N/A
0DataRank · unranked
3 citations

Michael A. Iacocca, Lukáš Tichý, Hannah Wand, C. Lisa Kurtz, Heather Zimmermann +23 more

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.002
N/A
0DataRank · unranked
315 citations

Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons +28 more

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

medRxiv(2023)10.1101/2023.02.24.23286431
N/A
0DataRank · unranked
17 citations

Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons +11 more