Austin Larson

University of Colorado Anschutz Medical Campus

ORCID: 0000-0002-2079-6929

Also affiliated with 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 2%percentile

2.0Author 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 →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Mitochondrial diseases in North America

Neurology Genetics(2020)10.1212/nxg.0000000000000402

Top 11%

2.0DataRank

Top 11%77 citations

Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro +30 more

Papers

Driven by 25 papers — median percentile 89. Top paper: “Mitochondrial diseases in North America”.

Mitochondrial diseases in North America

Neurology Genetics(2020)10.1212/nxg.0000000000000402

Top 11%

2.0DataRank

Top 11%77 citations

Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro +30 more

A complement C4–derived glycopeptide is a biomarker for PMM2-CDG

JCI Insight(2024)10.1172/jci.insight.172509

N/A

0.388DataRank · unranked

10 citations

Rohit Budhraja, Mayank Saraswat, Jin Yong Kim, Neha Joshi, Gunveen S. Sachdeva +18 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

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12290

N/A

0DataRank · unranked

38 citations

Erik A. Eklund, Sergey A. Shiryaev, Yin Yao Dong, Mary‐Alice Abbott, Carla Asteggiano +48 more

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.03.001

N/A

0DataRank · unranked

36 citations

Warapan Nakayuenyongsuk, Brian J. Shayota, William Berquist, Natalia Gomez‐Ospina, Carlos O. Esquivel +18 more

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12238

N/A

0DataRank · unranked

34 citations

Isaac D Liu, Jeffrey B. Hodgin, Peter I. Benke, Jeremy Selva, Federico Torta +22 more

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Genetics in Medicine(2020)10.1038/s41436-019-0739-z

N/A

0DataRank · unranked

33 citations

Emmalie A. Jager, Derk P. Allersma, Ayşe Çiğdem Aktuğlu Zeybek, Kaustuv Bhattacharya, François-Guillaume Debray +19 more

LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity

Mitochondrion(2020)10.1016/j.mito.2020.01.004

N/A

0DataRank · unranked

28 citations

Daniel Brezavar, Jennifer Hanson, Austin Larson, Penelope E. Bonnen, Arnaud Besse

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

0DataRank · unranked

5 citations

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

PURA- Related Developmental and Epileptic Encephalopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000613

N/A

0DataRank · unranked

52 citations

Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders +95 more

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Human Mutation(2021)10.1002/humu.24308

N/A

0DataRank · unranked

20 citations

Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane Yeboa +54 more

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

Human Molecular Genetics(2022)10.1093/hmg/ddac053

N/A

0DataRank · unranked

17 citations

Patrick Rump, Di Lu, Megan R. Glassford, Jung-Wan Mok, Jawid M. Fatih +12 more

De novo loss‐of‐function variant in PTDSS1 is associated with developmental delay

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62695

N/A

0DataRank · unranked

7 citations

Nivedita Sengupta, Carlos R. Ferreira, Joshua G. Pemberton, Ilse J. Anderson, Xin Wang +5 more

A new neurodevelopmental disorder linked to heterozygous variants in UNC79

Genetics in Medicine(2023)10.1016/j.gim.2023.100894

N/A

0DataRank · unranked

25 citations

Zhenjiang Liu, Sheng Luo, Christina Fenger, Anne F. Højte, Bertrand Isidor +13 more

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63097

N/A

0DataRank · unranked

3 citations

Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C. Jones, Austin Larson +17 more

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108513

N/A

0DataRank · unranked

13 citations

Kyle D. Hope, Andrew C. Edmondson, Rameen Shah, Maria Patino, Abigail Yesso +7 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

The clinical utility in hospital‐wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA‐related disorders

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12821

N/A

0DataRank · unranked

2 citations

Jane Estrella, Devin Oglesbee, Austin Larson, Johan L.K. Van Hove, Andrea Cortés Fernández

Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63516

N/A

0DataRank · unranked

2 citations

Nicola Longo, Robert G. Lewis, Thomas J. Nicholas, Steven E. Boyden, Ashley Andrews +6 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

0DataRank · unranked

2 citations

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

Causes of mortality in the congenital disorders of glycosylation

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109052

N/A

0DataRank · unranked

4 citations

Seishu Horikoshi, Sabrina Malone Jenkins, Fernando Scaglia, Christina Lam, Éva Morava +3 more

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109087

N/A

0DataRank · unranked

2 citations

Gina L. Mazza, Andrew C. Edmondson, Fernando Scaglia, Seishu Horikoshi, Bryce Kuschel +11 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

Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.10.15.682674

N/A

0DataRank · unranked

0 citations

Bailey L McCurdy, Austin Larson, Emily A. McCourt, Michael L. Kaufman, Amy E. Campbell +6 more

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

Austin Larson

Indexed papers

Top data-sharing exemplar

Papers