Andrew C. Edmondson

Also affiliated with University of Pennsylvania

Biochemistry, Genetics and Molecular BiologyMedicineChemistryImmunology and Microbiology

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

0.406Author 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.

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG

Human Mutation(2024)10.1155/2024/8813121

Top 45%

0.406DataRank

Top 45%10 citations

Mari‐Anne Vals, Mercedes Serrano, Peter Witters, Anna Čechová, Tomáš Honzík +20 more

Papers

Driven by 24 papers — median percentile 55. Top paper: “Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation”.

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.010

N/A

0.785DataRank · unranked

21 citations

Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman +23 more

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.06.003

N/A

0.442DataRank · unranked

13 citations

Tomáš Honzík, Andrew C. Edmondson, Can Fıçıcıoğlu, Mercedes Serrano, Rita Barone +13 more

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG

Human Mutation(2024)10.1155/2024/8813121

Top 45%

0.406DataRank

Top 45%10 citations

Mari‐Anne Vals, Mercedes Serrano, Peter Witters, Anna Čechová, Tomáš Honzík +20 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

Deficient glycan extension and endoplasmic reticulum stresses in ALG3‐CDG

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12739

N/A

0.292DataRank · unranked

6 citations

Andrew C. Edmondson, Yair Argon, Hind Alsharhan, Christina Lam, Hudson H. Freeze +2 more

Coagulation abnormalities and vascular complications are common in PGM1-CDG

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108530

N/A

0.269DataRank · unranked

5 citations

Sofie Bleukx, Nicole Engelhardt, Erik A. Eklund, Saadet Mercimek‐Andrews, Andrew C. Edmondson +2 more

Causes of mortality in the congenital disorders of glycosylation

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

N/A

0.241DataRank · unranked

4 citations

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

ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12527

N/A

0DataRank · unranked

15 citations

Bobby G. Ng, Alis Guberinic, Earnest James Paul Daniel, Nicole Engelhardt, Rita Barone +11 more

Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis

Briefings in Bioinformatics(2023)10.1093/bib/bbad284

N/A

0DataRank · unranked

36 citations

Ingo Helbig, Andrew C. Edmondson, Lan Lin, Yi Xing, Robert Wang

Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12589

N/A

0DataRank · unranked

16 citations

Earnest James Paul Daniel, Jenny Thies, Irene J. Chang, Dana Goldner, Bobby G. Ng +19 more

Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107682

N/A

0DataRank · unranked

2 citations

Andrew C. Edmondson, Alanna Strong, Daniel Pomerantz, Emma Michl, Gerard T. Berry +2 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

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108472

N/A

0DataRank · unranked

11 citations

Erik A. Eklund, Silvia Radenkovic, Mustafa Sadek, Ibrahim Shammas, Sanne Verberkmoes +8 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

Map of the neuronal O-glycoproteome reveals driver functions in the regulated secretory pathway

Journal of Biological Chemistry(2025)10.1016/j.jbc.2025.110313

N/A

0DataRank · unranked

2 citations

Asli B. Topaktas, Leo Alexander Dworkin, John Hintze, Lasse H. Hansen, Mahnaz Nikpour +11 more

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.06.01.657261

N/A

0DataRank · unranked

2 citations

Rohit Budhraja, Zijie Xia, Ashley Melendez-Perez, Cadmus Cai, Silvia Radenkovic +15 more

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Brain(2020)10.1093/brain/awaa063

N/A

0DataRank · unranked

81 citations

Andrew C. Edmondson, Sumeet A. Khetarpal, Viola Alesi, Maha S. Zaki, Kevin Rostásy +27 more

Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism

BMC Medical Genomics(2025)10.1186/s12920-025-02237-x

N/A

0DataRank · unranked

0 citations

Andrew C. Edmondson, Albert C. Yan, Diva D. De León, Victoria R. Sanders

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12286

N/A

0DataRank · unranked

66 citations

Silvia Radenkovic, Andrew C. Edmondson, Rita Barone, Sandra Brasil, Anna Čechová +31 more

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12278

N/A

0DataRank · unranked

28 citations

Thi Tuyet Mai Nguyen, Jessica L. Zambonin, Kristin D. Kernohan, Anik St‐Denis, Nissan Baratang +20 more

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12378

N/A

0DataRank · unranked

29 citations

Miao He, Andrew C. Edmondson, Earnest James Paul Daniel, Jie Chen, Tyhiesia Donald +21 more

Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12367

N/A

0DataRank · unranked

21 citations

Bobby G. Ng, Earnest James Paul Daniel, Jennifer Friedman, Enikö K. Pivnick, Amal Alhashem +15 more

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01751-2

N/A

0DataRank · unranked

21 citations

Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo Raymond +4 more

Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation

Clinical Liver Disease(2021)10.1002/cld.1105

N/A

0DataRank · unranked

1 citations

Andrew C. Edmondson, Christin Johnsen

Andrew C. Edmondson

Indexed papers

Top data-sharing exemplar

Papers