Daisy Rymen

Biochemistry, Genetics and Molecular BiologyChemistry

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: “Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study”.

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

The Lancet(2022)10.1016/s0140-6736(21)02001-8

N/A

2.5DataRank · unranked

211 citations

Merel L. Hartgers, G. Kees Hovingh, Antonio J. Vallejo‐Vaz, Kausik K. Ray, Handrean Soran +86 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

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

Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinﬂammatory syndrome

Journal of Clinical Investigation(2024)10.1172/jci163604

N/A

0DataRank · unranked

27 citations

Alberto Iannuzzo, Tarin M. Bigley, B. Mylemans, Ruchit Rana, Pieter Baatsen +29 more