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

Irena Muffels

Wilhelmina Children's Hospital

ORCID: 0000-0002-4335-5034

Also affiliated with Icahn School of Medicine at Mount Sinai

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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 3 papers. Top paper: “Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy”.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Human Genetics(2021)10.1007/s00439-021-02283-2
N/A
0DataRank · unranked
36 citations

Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person +40 more

Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108487
N/A
0DataRank · unranked
16 citations

Silvia Radenkovic, Anu Jain, Irena Muffels, Moulay Hicham Alaoui Ismaili, Tamás Kozicz +3 more

Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.08.15.670547
N/A
0DataRank · unranked
0 citations

Samuel Boris Tene Tadoum, Irena Muffels, Rohit Budhraja, Luisa Sturiale, Angela Messina +20 more