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

Erik A. Eklund

Lund University

ORCID: 0000-0003-1902-4865

Also affiliated with Skåne University Hospital

Biochemistry, Genetics and Molecular BiologyChemistryMedicine

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 9 papers. Top paper: “Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions”.

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

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

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Brain(2021)10.1093/brain/awab299

N/A

0DataRank · unranked

42 citations

Ban H. Edani, Simone Martinelli, Hana Hansíková, Erik A. Eklund, Caterina Caputi +45 more

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Genetics in Medicine(2022)10.1016/j.gim.2022.09.015

N/A

0DataRank · unranked

17 citations

Yael Mozer‐Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger +56 more

Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

European Journal of Paediatric Neurology(2024)10.1016/j.ejpn.2024.03.003

N/A

0DataRank · unranked

29 citations

Daphne H. Schoenmakers, Laura Adang, Stefanie Beck‐Woedl, Caroline Bergner, Geneviève Bernard +23 more

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States

Cytotherapy(2024)10.1016/j.jcyt.2024.03.487

N/A

0DataRank · unranked

25 citations

Joshua L. Bonkowsky, Jaap Jan Boelens, Eric J. Mallack, Rebecca C. Ahrens‐Nicklas, John Bernat +27 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

Coagulation abnormalities and vascular complications are common in PGM1-CDG

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

N/A

0DataRank · unranked

5 citations

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

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

Journal of Clinical Investigation(2024)10.1172/jci178919

N/A

0DataRank · unranked

3 citations

Laura Planas‐Serra, Abigail Sveden, Amy Tam, Hyo‐Min Kim, Umar Zubair +10 more