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

Amy Goldstein

Children's Hospital of Philadelphia

ORCID: 0000-0001-6593-5905

Also affiliated with University of Pennsylvania

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 100%percentile
0Author 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 →

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.

Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes

Orphanet Journal of Rare Diseases(2025)10.1186/s13023-025-03632-4
Top 100%
0DataRank
Top 100%0 citations

Elizabeth Reynolds, Marissa Weis, Ibrahim George‐Sankoh, Sara Nguyen, K. Stanley +5 more

Papers

Driven by 12 papers — median percentile 0. Top paper: “Phenotypic and Imaging Spectrum Associated With WDR45”.

Phenotypic and Imaging Spectrum Associated With WDR45

Pediatric Neurology(2020)10.1016/j.pediatrneurol.2020.03.005
N/A
0.571DataRank · unranked
44 citations

Amy Pizzino, Alka Malhotra, Holly Dubbs, Catherine Williams, Omar Sherbini +17 more

Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.02.006
N/A
0.385DataRank · unranked
12 citations

Marni J. Falk, Amy Goldstein, Ibrahim George‐Sankoh, Rui Xiao, Laura Adang +2 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Nature Communications(2025)10.1038/s41467-025-64838-5
N/A
0.241DataRank · unranked
4 citations

Keqin Yan, Raissa Relator, Mathieu Lévesque, P.S. Jayasinghe, Sara Timpano +61 more

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.12.006
N/A
0DataRank · unranked
29 citations

Jorune Balciuniene, Maria Alejandra Diaz‐Miranda, Elizabeth M. McCormick, Erfan Aref-Eshghi, Alison M. Muir +14 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00373-5
N/A
0DataRank · unranked
1 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12526
N/A
0DataRank · unranked
17 citations

Gaëlle Friocourt, Naïg Guéguen, Marisa W. Friederich, Gérald Le Gac, Volkan Okur +34 more

Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children

American Journal of Neuroradiology(2020)10.3174/ajnr.a6910
N/A
0DataRank · unranked
14 citations

Amy Goldstein, Sara Reis Teixeira, Juan Sebastián Martín-Saavedra, Isabella Peixoto de Barcelos, Giulia Fadda +9 more

iPSC-Derived Neurons from Patients with POLG Mutations Exhibit Decreased Mitochondrial Content and Dendrite Simplification

American Journal Of Pathology(2022)10.1016/j.ajpath.2022.11.002
N/A
0DataRank · unranked
9 citations

Lily Francis, Britney N. Lizama, Jason Callio, Gabriella Fricklas, Kent Z.Q. Wang +9 more

Correction to: Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders

The Cerebellum(2022)10.1007/s12311-022-01370-y
N/A
0DataRank · unranked
0 citations

Sara Reis Teixeira, Cesar Alves, Fabrício Guimarães Gonçalves, Luis Octavio Tierradentro‐García, Martin Kidd +4 more

Signs, symptoms, and health-related quality of life in MELAS: measuring what’s important from the patient and clinician perspectives

Journal of Patient-Reported Outcomes(2025)10.1186/s41687-025-00962-6
N/A
0DataRank · unranked
1 citations

Benjamin Banderas, Marisa Brimmer, Lily Settel, Sari Berger, Alan L. Shields +14 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62124
N/A
0DataRank · unranked
72 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes

Orphanet Journal of Rare Diseases(2025)10.1186/s13023-025-03632-4
Top 100%
0DataRank
Top 100%0 citations

Elizabeth Reynolds, Marissa Weis, Ibrahim George‐Sankoh, Sara Nguyen, K. Stanley +5 more