Patrick Rump

Also affiliated with University of Groningen

Biochemistry, Genetics and Molecular BiologyNursingMedicine

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: “Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy”.

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Nature Genetics(2025)10.1038/s41588-025-02159-5

N/A

0.571DataRank · unranked

44 citations

Koenraad De Wispelaere, Jonathan Lees, Marta Codina‐Solà, Brynjar Ö. Jensson, Emma Hales +47 more

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.03.009

N/A

0.515DataRank · unranked

30 citations

Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed +14 more

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

Human Molecular Genetics(2022)10.1093/hmg/ddac053

N/A

0DataRank · unranked

17 citations

Patrick Rump, Di Lu, Megan R. Glassford, Jung-Wan Mok, Jawid M. Fatih +12 more

Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape

medRxiv(2025)10.1101/2025.08.05.25330579

N/A

0DataRank · unranked

0 citations

Christina Fagerberg, Thomas Koed Doktor, Mia M. Rosenlund, Santiago M. Lumbreras, Mark Burton +70 more