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

Joy Goffena

University of Washington

ORCID: 0000-0002-2346-2879

Also affiliated with Seattle Children's Hospital

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

1.7Author DataRank

Indexed papers

1in 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 1 indexed paper 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 →

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

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

Genome Research(2024)10.1101/gr.279273.124

Top 13%

1.7DataRank

Top 13%78 citations

Sophia B Gibson, Nikhita Damaraju, Miranda Pg Zalusky, Kendra Hoekzema, David Twesigomwe +42 more

Papers

Driven by 13 papers — median percentile 87. Top paper: “High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation”.

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

Genome Research(2024)10.1101/gr.279273.124

Top 13%

1.7DataRank

Top 13%78 citations

Sophia B Gibson, Nikhita Damaraju, Miranda Pg Zalusky, Kendra Hoekzema, David Twesigomwe +42 more

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

medRxiv(2023)10.1101/2023.10.11.23296741

N/A

0DataRank · unranked

1 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +48 more

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Nature Communications(2024)10.1038/s41467-024-50159-6

N/A

0DataRank · unranked

24 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +50 more

CFAP47 is Implicated in X-Linked Polycystic Kidney Disease

Kidney International Reports(2024)10.1016/j.ekir.2024.09.013

N/A

0DataRank · unranked

4 citations

Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kouhei Yamamoto, Takefumi Suzuki +63 more

Concordance of whole-genome long-read sequencing with standard clinical testing for Prader-Willi and Angelman syndromes

medRxiv(2024)10.1101/2024.04.02.24305233

N/A

0DataRank · unranked

1 citations

Miranda Galey, Anita E. Beck, Madelyn A. Gillentine, Jaya Narayanan, Nikhita Damaraju +4 more

A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease

medRxiv(2024)10.1101/2024.12.18.24318806

N/A

0DataRank · unranked

1 citations

Katrina M. Bell, Ramakrishnan Rajagopalan, M. De Silva, Aída Lemes, Cristina Zoco Zabala +24 more

Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes

Journal of Molecular Diagnostics(2025)10.1016/j.jmoldx.2024.12.003

N/A

0DataRank · unranked

6 citations

Miranda P.G. Zalusky, Anita E. Beck, Madelyn A. Gillentine, Jaya Narayanan, Nikhita Damaraju +4 more

Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells

Nucleic Acids Research(2025)10.1093/nar/gkaf658

N/A

0DataRank · unranked

5 citations

Emily Miyoshi, Hasan O. Akman, Sophie Storz, Joy Goffena, Julia Pytte +4 more

Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease

Neurology Genetics(2025)10.1212/nxg.0000000000200291

N/A

0DataRank · unranked

3 citations

Katrina M. Bell, Ramakrishnan Rajagopalan, M. De Silva, Aída Lemes, Cristina Zoco Zabala +24 more

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti

Research Square(2025)10.21203/rs.3.rs-5811417/v1

N/A

0DataRank · unranked

0 citations

Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson +21 more

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100468

N/A

0DataRank · unranked

0 citations

Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson +21 more

Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway

Biology Open(2021)10.1242/bio.058979

N/A

0DataRank · unranked

6 citations

Elin Lehrmann, Tien Chih, Joseph Walters, Richard Buksch, Sara K. Snyder +5 more

Long‐read DNA sequencing resolves a rare case of alloimmune hemolysis mimicking autoimmune hemolysis

Transfusion(2025)10.1111/trf.18403

N/A

0DataRank · unranked

0 citations

Thomas Ma, Livia Hegerova, Theresa Nester, Nina Sen, Lay See Er +14 more