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

Elsebet Østergaard

University of Copenhagen

ORCID: 0000-0002-8047-063X

Also affiliated with Copenhagen University Hospital, Rigshospitalet

Biochemistry, Genetics and Molecular Biology

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 6 papers. Top paper: “SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease”.

SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

Nature Communications(2020)10.1038/s41467-020-19743-4
N/A
0DataRank · unranked
81 citations

Sanna Matilainen, Jesse G. Meyer, Pieti W. Pallijeff, J. Wall Richard, Christopher J. Carroll +21 more

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Human Mutation(2021)10.1002/humu.24308
N/A
0DataRank · unranked
20 citations

Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane Yeboa +54 more

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.013
N/A
0DataRank · unranked
43 citations

Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood +63 more

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

Human Molecular Genetics(2023)10.1093/hmg/ddad069
N/A
0DataRank · unranked
28 citations

Daniella H. Hock, Nicole J. Lake, Sarah E. Calvo, Sabine Grønborg, Emma Krzesinski +14 more

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.007
N/A
0DataRank · unranked
18 citations

Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae‐Ik Choi, Carolyn A Allan +51 more

Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency

Molecular Genetics and Metabolism Reports(2024)10.1016/j.ymgmr.2024.101176
N/A
0DataRank · unranked
0 citations

Elsebet Østergaard, Daniel J.M. Fernández‐Ayala, María Andrea Desbats, Valeria Morbidoni, Laura Tomás-Gallado +12 more