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

Kira A. Dies

Boston Children's Hospital

ORCID: 0000-0002-0877-8533
MedicineBiochemistry, Genetics and Molecular Biology

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
1.3Author DataRank

Indexed papers

3in 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 3 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 17 papers — median percentile 53. Top paper: “Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome”.

Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome

Pediatric Neurology(2020)10.1016/j.pediatrneurol.2020.01.006
N/A
0.945DataRank · unranked
21 citations

Siddharth Srivastava, Anna K. Prohl, Benoît Scherrer, Kush Kapur, Rajna Filip‐Dhima +16 more

A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome

Human Molecular Genetics(2022)10.1093/hmg/ddac111
N/A
0.908DataRank · unranked
35 citations

Booil Jo, Bo Zhang, Thomas Frazier, Anne Gallagher, Fleming Peck +13 more

Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism

Molecular Autism(2021)10.1186/s13229-020-00406-6
N/A
0.578DataRank · unranked
16 citations

Ritika Jaini, Robyn M. Busch, Matthew Wolf, Tammy Sadler, Patricia Klaas +12 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

Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome

Clinical Genetics(2025)10.1111/cge.14697
Top 47%
0.390DataRank
Top 47%9 citations

Seyda Kilic, Hailey Osika, Alisa Mo, Meg Quinn, Sonia Ballal +11 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

Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers

Journal of Neurodevelopmental Disorders(2022)10.1186/s11689-022-09434-0
N/A
0DataRank · unranked
8 citations

Siddharth Srivastava, Youssef A. Kousa, Rima Izem, Marcin Gierdalski, Dong‐Kyu Kim +11 more

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100145
N/A
0DataRank · unranked
7 citations

Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett Collins, Aya Osman +17 more

Emerging roles and opportunities for rare disease patient advocacy groups

Therapeutic Advances in Rare Disease(2023)10.1177/26330040231164425
N/A
0DataRank · unranked
58 citations

Megan O’Boyle, Grace E. VanNoy, Kira A. Dies, Amy M. Patterson

Updated consensus guidelines on the management of Phelan–McDermid syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63312
N/A
0DataRank · unranked
49 citations

Mustafa Sahin, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Latha Soorya, Audrey Thurm +40 more

Toward representative genomic research: the children’s rare disease cohorts experience

Therapeutic Advances in Rare Disease(2023)10.1177/26330040231181406
N/A
0DataRank · unranked
17 citations

Eurnestine Brown, Shira Rockowitz, Ted Lee, Bo Zhang, Abigail Sveden +6 more

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Nature Communications(2025)10.1038/s41467-025-65556-8
N/A
0DataRank · unranked
3 citations

Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, Lise Bray +95 more

Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex

Pediatric Neurology(2020)10.1016/j.pediatrneurol.2020.04.002
N/A
0DataRank · unranked
45 citations

Jurriaan M. Peters, Tarrant McPherson, Darcy A. Krueger, Mustafa Sahin, Joyce Y. Wu +26 more

Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex

Pediatric Neurology(2020)10.1016/j.pediatrneurol.2020.07.015
N/A
0DataRank · unranked
23 citations

Melissa A. Richard, Philip J. Lupo, Mustafa Şahin, Darcy A. Krueger, Joyce Y. Wu +21 more

A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations

Contemporary Clinical Trials Communications(2021)10.1016/j.conctc.2021.100733
N/A
0DataRank · unranked
19 citations

Booil Jo, Thomas Frazier, Patricia Klaas, Robyn M. Busch, Kira A. Dies +7 more

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome

Journal of Neurodevelopmental Disorders(2021)10.1186/s11689-021-09398-7
N/A
0DataRank · unranked
12 citations

Emma Condy, Erin Carmody, Rajna Filip‐Dhima, Kush Kapur, Jonathan A. Bernstein +14 more

GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy

Molecular Therapy — Methods & Clinical Development(2022)10.1016/j.omtm.2022.08.007
N/A
0DataRank · unranked
13 citations

Meera E. Modi, Kira A. Dies, Nancy L. Chamberlin, Elizabeth D. Buttermore, Stephanie J. Brewster +3 more