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

Jaak Jaeken

ORCID: 0000-0003-1571-9707

Biochemistry, Genetics and Molecular BiologyChemistryMedicineImmunology 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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 4 papers. Top paper: “D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial”.

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-020-01609-z

N/A

0.667DataRank · unranked

14 citations

Hans C. Andersson, Jaak Jaeken, Laura A. Tseng, Clara D.M. van Karnebeek, Dirk J. Lefeber +3 more

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

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.09.012

N/A

0DataRank · unranked

17 citations

Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha Ranatunga, Marina Ventouratou +30 more