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

Juliann M. Savatt

Genomic Health (United States)

ORCID: 0000-0001-6444-1962

Also affiliated with Geisinger Health System

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 3%percentile
0.930Author DataRank

Indexed papers

2in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology
Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Top data-sharing exemplar

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Clinical variants paired with phenotype: A rich resource for brain gene curation

Genetics in Medicine(2023)10.1016/j.gim.2023.101035
Top 35%
0.557DataRank
Top 35%11 citations

Juliann M. Savatt, Taylor I. Bingaman, Molly Good, Alexis Morgan, Caitlin Cooney +37 more

Papers

Driven by 14 papers — median percentile 58. Top paper: “Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications”.

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Brain(2021)10.1093/brain/awab321
N/A
2.9DataRank · unranked
149 citations

Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert +95 more

Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents

BMC Pediatrics(2020)10.1186/s12887-020-02070-4
N/A
0.852DataRank · unranked
20 citations

Jennifer K. Wagner, Steven Joffe, Alanna Kulchak Rahm, Marc S. Williams, Angela R. Bradbury +13 more

Clinical variants paired with phenotype: A rich resource for brain gene curation

Genetics in Medicine(2023)10.1016/j.gim.2023.101035
Top 35%
0.557DataRank
Top 35%11 citations

Juliann M. Savatt, Taylor I. Bingaman, Molly Good, Alexis Morgan, Caitlin Cooney +37 more

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder

Genes(2024)10.3390/genes15040423
N/A
0.545DataRank · unranked
10 citations

Alyssa Blesson, Juliann M. Savatt, Abigail Sveden, Sonal Mahida, Heather C. Hazlett +3 more

Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms

Annual Review of Biomedical Data Science(2024)10.1146/annurev-biodatasci-102423-112456
N/A
0.502DataRank · unranked
16 citations

Courtney L Thaxton, Tristan H Nelson, Marina T. DiStefano, Juliann M. Savatt, Matthew Brush +25 more

The Brain Gene Registry: a data snapshot

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09530-3
Top 48%
0.373DataRank
Top 48%11 citations

Levi Kaster, Catherine Sancimino, Siddharth Srivastava, Sophie Molholm, Aditi Gupta +58 more

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Genetics in Medicine(2022)10.1016/j.gim.2022.05.001
N/A
0DataRank · unranked
25 citations

Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret L. Bostwick +36 more

Frequency of FLCN Loss of Function Variants and Birt-Hogg-Dubé-Associated Phenotypes in a Healthcare System Population

medRxiv(2022)10.1101/2022.01.31.22269926
N/A
0DataRank · unranked
0 citations

Hermela Shimelis, Andrés Moreno-De-Luca, Natasha T. Strande, Matthew T. Oetjens, David H. Ledbetter +4 more

Response to van Riel et al

Genetics in Medicine(2022)10.1016/j.gim.2022.10.008
N/A
0DataRank · unranked
0 citations

Matthew T. Oetjens, Scott M. Myers, Brenda Finucane, Juliann M. Savatt

Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry

Genetics in Medicine(2021)10.1038/s41436-021-01197-8
N/A
0DataRank · unranked
17 citations

Danielle R. Azzariti, David H. Ledbetter, Emily Palen, Heidi L. Rehm, Erin Rooney Riggs +2 more

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.001
N/A
0DataRank · unranked
13 citations

Maria Carla Borroto, Sadegheh Haghshenas, A Namasivayam, Jack Reilly, Michael A. Levy +61 more

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

medRxiv(2021)10.1101/2021.03.22.21253711
N/A
0DataRank · unranked
5 citations

Yuanyuan Liu, Cathrine E. Gjerulfsen, Mahmoud Koko, Lukas Sonnenberg, Julian Schubert +95 more

Application of a framework to guide genetic testing communication across clinical indications

Genome Medicine(2021)10.1186/s13073-021-00887-x
N/A
0DataRank · unranked
30 citations

Eric P. Tricou, Kelly E. Ormond, Juliann M. Savatt, Curtis R. Coughlin, W. Andrew Faucett +11 more

Frequency of truncating FLCN variants and Birt-Hogg-Dubé–associated phenotypes in a health care system population

Genetics in Medicine(2022)10.1016/j.gim.2022.05.006
N/A
0DataRank · unranked
33 citations

Hermela Shimelis, Andrés Moreno-De-Luca, Natasha T. Strande, Matthew T. Oetjens, David H. Ledbetter +4 more