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

Maya Chopra

Boston Children's Hospital

ORCID: 0000-0002-2574-3375

Also affiliated with Boston Children's Museum

Biochemistry, Genetics and Molecular BiologyNeuroscience

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
1.5Author DataRank

Indexed papers

6in 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 6 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 18 papers — median percentile 37. Top paper: “Clinical variants paired with phenotype: A rich resource for brain gene curation”.

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

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

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

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

medRxiv(2024)10.1101/2024.11.19.24317561
Top 78%
0.104DataRank
Top 78%1 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry

Clinical Genetics(2025)10.1111/cge.14746
Top 78%
0.104DataRank
Top 78%1 citations

Sonal Mahida, Abigail Sveden, Meg Quinn, Maya Chopra, Siddharth Srivastava +1 more

Clinical actionability of genetic findings in cerebral palsy

medRxiv(2023)10.1101/2023.09.08.23295195
N/A
0DataRank · unranked
4 citations

Maya Chopra, Julie S. Cohen, Jennifer Bain, Bhooma R. Aravamuthan, Jason B. Carmel +10 more

Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.51942
N/A
0DataRank · unranked
9 citations

Dustin L. Gable, Zoë Frazier, Abigail Sveden, Aisling Quinlan, Maya Chopra +5 more

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

Annals of Neurology(2024)10.1002/ana.27045
N/A
0DataRank · unranked
8 citations

Jordan J. Cole, Julie S. Cohen, Maya Chopra, Hadley Stevens Smith, Matthew A. Deardorff +8 more

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

Genes(2024)10.3390/genes15040423
N/A
0DataRank · unranked
10 citations

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

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

Journal of Clinical Investigation(2024)10.1172/jci178919
N/A
0DataRank · unranked
3 citations

Laura Planas‐Serra, Abigail Sveden, Amy Tam, Hyo‐Min Kim, Umar Zubair +10 more

Deletions in the CDKL5 5′ untranslated region lead to CDKL5 deficiency disorder

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63843
N/A
0DataRank · unranked
2 citations

Ralph D. Hector, Lindsay C. Swanson, Aubrie Soucy Verran, Emma Sherrill, Zoë Frazier +20 more

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

medRxiv(2024)10.1101/2024.02.22.24302957
N/A
0DataRank · unranked
0 citations

Jordan J. Cole, Julie S. Cohen, Maya Chopra, Hadley Stevens Smith, Matthew A. Deardorff +8 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

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103429
Top 100%
0DataRank
Top 100%0 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 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

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

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