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

Katherine L. Helbig

Children's Hospital of Philadelphia

ORCID: 0000-0001-8249-0549
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 2%percentile
4.0Author 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.

Assessing the landscape of STXBP1-related disorders in 534 individuals

Brain(2021)10.1093/brain/awab327
Top 9%
2.3DataRank
Top 9%125 citations

Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig +48 more

Papers

Driven by 14 papers — median percentile 89. Top paper: “Assessing the landscape of STXBP1-related disorders in 534 individuals”.

Assessing the landscape of STXBP1-related disorders in 534 individuals

Brain(2021)10.1093/brain/awab327
Top 9%
2.3DataRank
Top 9%125 citations

Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig +48 more

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Genetics in Medicine(2021)10.1038/s41436-021-01120-1
Top 12%
1.7DataRank
Top 12%69 citations

Julie Xian, Katherine L. Helbig, Peter D. Galer, Shridhar Parthasarathy, David Lewis‐Smith +11 more

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances(2020)10.1126/sciadv.abc9207
N/A
0.691DataRank · unranked
99 citations

Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson +95 more

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation

Genetics in Medicine(2020)10.1038/s41436-020-0923-1
N/A
0DataRank · unranked
40 citations

Peter D. Galer, Katherine L. Helbig, Sarah McKeown, Margaret O’Brien, Alexander K. Gonzalez +5 more

Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51062
N/A
0DataRank · unranked
28 citations

Giulia Barcia, Manuela Pendziwiat, Shiva Ganesan, Stefanie H. Mueller, Katherine L. Helbig +14 more

PURA- Related Developmental and Epileptic Encephalopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000613
N/A
0DataRank · unranked
52 citations

Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders +95 more

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.007
N/A
0DataRank · unranked
40 citations

Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha +77 more

Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data

European Journal of Human Genetics(2021)10.1038/s41431-021-00908-8
N/A
0DataRank · unranked
18 citations

Shiva Ganesan, Peter D. Galer, Katherine L. Helbig, Sarah McKeown, Margaret O’Brien +8 more

High-throughput Evaluation of Epilepsy-associated KCNQ2 Variants Reveals Functional and Pharmacological Heterogeneity

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.10.18.464842
N/A
0DataRank · unranked
0 citations

Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora F. Ghabra +10 more

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

JCI Insight(2022)10.1172/jci.insight.156314
N/A
0DataRank · unranked
66 citations

Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora F. Ghabra +10 more

Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies

Developmental Medicine & Child Neurology(2022)10.1111/dmcn.15187
N/A
0DataRank · unranked
34 citations

Ingo Helbig, Michael C. Kaufman, Leah Schust Myers, Laura Conway, Katherine L. Helbig +1 more

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics(2025)10.1038/s41588-025-02361-5
N/A
0DataRank · unranked
3 citations

Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza‐Arostegui +95 more

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.08.003
N/A
0DataRank · unranked
46 citations

Shiva Ganesan, David Lewis‐Smith, Sarah McKeown, Manuela Pendziwiat, Katherine L. Helbig +13 more

Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

Human Mutation(2020)10.1002/humu.24015
N/A
0DataRank · unranked
40 citations

Katherine L. Helbig, Candace T. Myers, Marcello Scala, Robert Huether, Sara A. Lewis +40 more