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

Marisa W. Friederich

Children's Hospital Colorado

ORCID: 0000-0003-0902-5565

Also affiliated with University of Colorado Anschutz Medical Campus, University of Colorado Denver

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 5%percentile
0.413Author 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.

Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children

Hepatology Communications(2023)10.1097/hc9.0000000000000139
Top 45%
0.413DataRank
Top 45%10 citations

Alexander Miethke, C. Alexander Valencia, Kieran Hawthorne, Lisa Henn, Johan L.K. Van Hove +19 more

Papers

Driven by 19 papers — median percentile 55. Top paper: “Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children”.

Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children

Hepatology Communications(2023)10.1097/hc9.0000000000000139
Top 45%
0.413DataRank
Top 45%10 citations

Alexander Miethke, C. Alexander Valencia, Kieran Hawthorne, Lisa Henn, Johan L.K. Van Hove +19 more

Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases.

PubMed(2024)10.1097/hc9.0000000000000361
N/A
0.360DataRank · unranked
10 citations

Marisa W. Friederich, Dana Strode, Roxanne A. Van Hove, Kristen Miller, Rohit Sharma +22 more

The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome

Mitochondrion(2020)10.1016/j.mito.2020.08.009
N/A
0.269DataRank · unranked
5 citations

Emily Shelkowitz, Austin Larson, David M. Mirsky, Yue Wang, Ting Chen +4 more

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

Rare(2024)10.1016/j.rare.2024.100040
N/A
0.208DataRank · unranked
3 citations

Samuel J. Huang, Alyna Khan, Katie Golden‐Grant, Brenna Boyd, Elisabeth A. Rosenthal +37 more

An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis

Mitochondrion(2024)10.1016/j.mito.2024.101973
N/A
0.165DataRank · unranked
2 citations

Austin Larson, Naomi Meeks, Sara Gracie, Marisa W. Friederich, Sommer Gaughan +9 more

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

JIMD Reports(2023)10.1002/jmd2.12360
N/A
0DataRank · unranked
4 citations

Melinda Nolan, David R. Thorburn, Johan L.K. Van Hove, Marisa W. Friederich, Donald R. Love +8 more

ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis

Mitochondrion(2024)10.1016/j.mito.2024.101905
N/A
0DataRank · unranked
9 citations

Marisa W. Friederich, Daniella H. Hock, David A. Stroud, Nikeisha J. Caruana, Uwe Christians +13 more

Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12755
N/A
0DataRank · unranked
3 citations

Hua Jiang, Nicolas Busquet, Jessica Carlsen, Connie Brindley, Tim A. Benke +6 more

Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.03.26.586818
N/A
0DataRank · unranked
0 citations

Hua Jiang, Nicolas Busquet, Jessica Carlsen, Connie Brindley, Tim A. Benke +6 more

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

EMBO Molecular Medicine(2025)10.1038/s44321-025-00290-8
N/A
0DataRank · unranked
8 citations

Marisa W. Friederich, Daniella H. Hock, Jessie R. Zhang, Liana Valin, Jill A. Rosenfeld +35 more

Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.05.007
N/A
0DataRank · unranked
2 citations

Woranontee Weraarpachai, Katherine M. Szigety, Robert Kopajtich, James B. Gibson, Johan L.K. Van Hove +13 more

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

medRxiv(2025)10.1101/2025.07.08.25330848
N/A
0DataRank · unranked
1 citations

Marisa W. Friederich, Daniella H. Hock, Jessie R. Zhang, Liana Valin, Jill A. Rosenfeld +35 more

Clinical utility of the ATP hydrolysis assay for the diagnosis of complex V deficiency in cultured skin fibroblasts

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109257
N/A
0DataRank · unranked
0 citations

Johan L.K. Van Hove, Marisa W. Friederich

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12232
N/A
0DataRank · unranked
62 citations

Abdallah F. Elias, Alice Küster, Lucia Laugwitz, Austin Larson, Aaron P. Landry +16 more

Novel SUCLG1 Variants in a Patient with Fatal Neonatal Onset Succinyl-Coa Ligase Deficiency

Journal of Pediatric Genetics(2025)10.53391/2146-460x.1009
N/A
0DataRank · unranked
0 citations

Lauren Culbertson, Cary O. Harding, Cori Feist, Johan L.K. Van Hove, Marisa W. Friederich +6 more

A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.11.006
N/A
0DataRank · unranked
6 citations

Marisa W. Friederich, Ting Chen, Austin Larson, David M. Mirsky, Yue Wang +5 more

The mitochondrial calcium uniporter compensates for Complex I dysfunction

Research Square(2021)10.21203/rs.3.rs-378028/v1
N/A
0DataRank · unranked
0 citations

David Eberhardt, John M. Pleinis, Salah Sommakia, Anthony M. Balynas, Xue Yin +16 more

Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment

Nature Communications(2022)10.1038/s41467-022-30236-4
N/A
0DataRank · unranked
48 citations

David Eberhardt, Sandra Lee, John M. Pleinis, Salah Sommakia, Anthony M. Balynas +17 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