Dwight D. Koeberl

MedicineBiochemistry, 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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 12 papers. Top paper: “Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease”.

Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease

Communications Biology(2021)10.1038/s42003-021-02059-4

N/A

1.0DataRank · unranked

38 citations

Chris J. Zhou, Alastair Khodabukus, Sabrina Tran, Sang-oh Han, Aaron L. Carlson +5 more

A case study of inclusion of rural populations in research: Implications for science and health equity

Clinical and Translational Science(2024)10.1111/cts.13885

N/A

0.406DataRank · unranked

14 citations

Wendy K. K. Lam, James Goodrich, Sydney Sullivan, Keisha L. Bentley‐Edwards, Dwight D. Koeberl +3 more

Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2023)10.1002/ajmg.c.32031

N/A

0.373DataRank · unranked

11 citations

Philip J. Brooks, Dwight D. Koeberl, Amy Brower, Aaron J. Goldenberg, Robert C. Green +5 more

Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109049

N/A

0.104DataRank · unranked

1 citations

Alexander Kreymerman, Jill L Young, Nirmal Vadgama, Marco H. Ji, Sandeep Randhawa +14 more

Screening data from 19 patients with late‐onset Pompe disease for a phase I clinical trial of AAV8 vector‐mediated gene therapy

JIMD Reports(2023)10.1002/jmd2.12391

N/A

0DataRank · unranked

2 citations

Laura E. Case, Edward C. Smith, Crista Walters, Deeksha Bali, Priya S. Kishnani +2 more

Fasting alleviates metabolic alterations in mice with propionyl-CoA carboxylase deficiency due to Pcca mutation

Communications Biology(2024)10.1038/s42003-024-06362-8

N/A

0DataRank · unranked

15 citations

Hannah Marchuk, Dwight D. Koeberl, Takhar Kasumov, Xiaoxin Chen, Guofang Zhang +1 more

The attenuated hepatic clearance of propionate increases cardiac oxidative stress in propionic acidemia

Basic Research in Cardiology(2024)10.1007/s00395-024-01066-w

N/A

0DataRank · unranked

13 citations

Suhong Zhu, Wentao He, Hannah Marchuk, Eva Richard, Lourdes R. Desviat +6 more

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

American Journal on Intellectual and Developmental Disabilities(2020)10.1352/1944-7558-125.6.475

N/A

0DataRank · unranked

64 citations

Aaron J. Kaat, Audrey Thurm, Irina Anselm, Natacha Akshoomoff, Amanda Bennett +25 more

Developing therapeutics for rare cardiovascular diseases

American Heart Journal(2025)10.1016/j.ahj.2025.09.004

N/A

0DataRank · unranked

0 citations

Dwight D. Koeberl, Shilpi Epstein, Lothar Roessig, Rodica Stan, Meghan C. Halley +10 more

Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency

Disease Models & Mechanisms(2022)10.1242/dmm.049261

N/A

0DataRank · unranked

7 citations

Stacy Hrizo, Samantha L. Eicher, Jules Kowalski, Tracey D. Myers, Megan R. Pfeifer +4 more

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107605

N/A

0DataRank · unranked

4 citations

Angela Leshinski, Nicole Ducich, Leigh Anne Flore, April Rasala Lehman, Natasha Shur +10 more

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

Molecular Genetics and Metabolism Reports(2023)10.1016/j.ymgmr.2023.101001

N/A

0DataRank · unranked

2 citations

Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault +10 more