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

Catherine A. Brownstein

Boston Children's Hospital

ORCID: 0000-0002-7371-0340

Also affiliated with Harvard University, Boston Children's Museum, Dana-Farber/Boston Children's Cancer and Blood Disorders Center

Biochemistry, 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 4%percentile
0.778Author 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.

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

npj Genomic Medicine(2024)10.1038/s41525-024-00441-9
Top 48%
0.373DataRank
Top 48%11 citations

Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra +32 more

Papers

Driven by 24 papers — median percentile 43. Top paper: “Children’s rare disease cohorts: an integrative research and clinical genomics initiative”.

Children’s rare disease cohorts: an integrative research and clinical genomics initiative

npj Genomic Medicine(2020)10.1038/s41525-020-0137-0
N/A
1.4DataRank · unranked
69 citations

Nicholas LeCompte, Mary M. Carmack, Andrew Quitadamo, Lily Wang, Meredith Park +16 more

A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood

European Journal of Medical Genetics(2020)10.1016/j.ejmg.2020.104002
N/A
0.449DataRank · unranked
19 citations

Ingrid A. Holm, Annapurna Poduri, Catherine A. Brownstein, Sanda Alexandrescu, Jennifer Chen +3 more

Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants

Genes(2023)10.3390/genes14040779
N/A
0.445DataRank · unranked
8 citations

Merhawi Ghebrelul, Casie A. Genetti, Richard S. Smith, Shira Rockowitz, Emma Deaso +6 more

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

npj Genomic Medicine(2024)10.1038/s41525-024-00441-9
Top 48%
0.373DataRank
Top 48%11 citations

Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra +32 more

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Human Molecular Genetics(2023)10.1093/hmg/ddad124
N/A
0.312DataRank · unranked
7 citations

Baozhong Xin, Iris Nira Smith, Valerie Sency, Julia Szekely, Anna Alkelai +49 more

Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age

Advanced Genetics(2022)10.1002/ggn2.202200012
Top 57%
0.281DataRank
Top 57%4 citations

Élise Douard, Robin L. Haynes, Hyun Yong Koh, Alireza Haghighi, Christine Keywan +10 more

Development of self-phenotyping tools to empower patients and improve diagnostics

EBioMedicine(2025)10.1016/j.ebiom.2025.105965
Top 71%
0.124DataRank
Top 71%1 citations

Sonja I. Ziniel, Julie A. McMurry, Catherine A. Brownstein, John S. Brownstein, Erin Rooney Riggs +10 more

Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.05.22.595175
N/A
0.104DataRank · unranked
1 citations

Alisa Mo, Chunhui Cai, Liang Sun, Kristen Cabral, Catherine A. Brownstein +3 more

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Cell Reports(2022)10.1016/j.celrep.2022.110517
N/A
0DataRank · unranked
52 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +56 more

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51531
N/A
0DataRank · unranked
7 citations

Afshin Saffari, Hellen Jumo, M. L. ZIEGLER, Oleksandr Strelko, Catherine A. Brownstein +6 more

Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort

Advanced Genetics(2022)10.1002/ggn2.202200013
N/A
0DataRank · unranked
4 citations

Shira Rockowitz, Marielle Thorne, Pressley Smith, Jeanette Petit, Veronica Zehnder +9 more

Returning Individual Research Results from Digital Phenotyping in Psychiatry

The American Journal of Bioethics(2023)10.1080/15265161.2023.2180109
N/A
0DataRank · unranked
32 citations

Matthew L. Baum, Nicole Martinez‐Martin, Adam S. Miner, Melissa Abraham, Catherine A. Brownstein +23 more

Using social media listening to understand barriers to genomic medicine for those living with Ehlers–Danlos syndromes and hypermobility spectrum disorders

Health Expectations(2023)10.1111/hex.13755
N/A
0DataRank · unranked
10 citations

Amanda L. Garrett, Catherine A. Brownstein, Sonja I. Ziniel, Erica Payton, Aleah Goldin +4 more

High number of candidate gene variants are identified as disease‐causing in a period of 4 years

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63509
N/A
0DataRank · unranked
5 citations

Qifei Li, Jill A. Madden, Casie A. Genetti, Catherine A. Brownstein, Klaus Schmitz‐Abe +3 more

Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.002
N/A
0DataRank · unranked
10 citations

Alisa Mo, Chunhui Cai, Liang Sun, Kristen Cabral, Catherine A. Brownstein +3 more

Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic

JAACAP Open(2024)10.1016/j.jaacop.2024.06.002
N/A
0DataRank · unranked
3 citations

Irene Antony, Erika L. Nurmi, Thomas Fernandez, Wendy K. Chung, Catherine A. Brownstein +8 more

Interstitial Cystitis: a phenotype and rare variant exome sequencing study

medRxiv(2025)10.1101/2025.02.16.25322147
N/A
0DataRank · unranked
0 citations

Ayan Malakar, Sarath Babu Krishna Murthy, Miguel Verbitsky, Atlas Kahn, Elicia Estrella +10 more

Role for the Na + /K + ATPase pump alpha 3 ( ATP1A3 ) subunit in folding and lamination of the human neocortex

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.03.319137
N/A
0DataRank · unranked
1 citations

Marta Florio, Shyam K. Akula, Jennifer E. Neil, Yidi Wang, R. Sean Hill +15 more

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

Journal of Medical Internet Research(2021)10.2196/21023
N/A
0DataRank · unranked
13 citations

Margaret A. Hojlo, Sampath Chennuri, Nitin Gujral, Heather Paterson, Kent A Shefchek +14 more

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100035
N/A
0DataRank · unranked
10 citations

Casie A. Genetti, Asli Aykanat, Catherine A. Brownstein, Klaus Schmitz‐Abe, Morgan Danowski +17 more

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

Molecular Psychiatry(2021)10.1038/s41380-021-01035-y
N/A
0DataRank · unranked
16 citations

Richard S. Smith, Lance H. Rodan, Mark Gorman, Margaret A. Hojlo, Emily A. Garvey +25 more

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

PLoS Genetics(2021)10.1371/journal.pgen.1009639
N/A
0DataRank · unranked
7 citations

Michal Dibus, Alicia Casey, Christina Yee, Sara O. Vargas, Shiyu Luo +15 more

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2020.12.30.424813
N/A
0DataRank · unranked
3 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +39 more

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51506
N/A
0DataRank · unranked
82 citations

Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz +34 more