Author

Steven Laurie

Institutions: Centro Nacional de Análisis Genómico, Universitat de Barcelona

Observed institutions: University Medical Center Groningen, University of Groningen, Universitat Pompeu Fabra, Barcelona Institute of Science and Technology, Centre for Genomic Regulation, Centro Nacional de Análisis Genómico, Universitat de Barcelona

ORCID: 0000-0003-3913-5829

Observed ORCID: 0000-0003-3913-5829

OpenAlex ID: A5110771642

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

2021 · Leslie Matalonga, Carles Hernández-Ferrer, et al. · European Journal of Human Genetics · 71

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

2025 · Steven Laurie, Wouter Steyaert, et al. · Nature Medicine · 70

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

2021 · Elke de Boer, Charlotte W. Ockeloen, et al. · European Journal of Human Genetics · 12

An interconnected data infrastructure to support large-scale rare disease research

2024 · Lennart F Johansson, Steve Laurie, et al. · GigaScience · 11

The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations

2025 · Maria Francesca Di Feo, Ida Paramonov, et al. · Genetics in Medicine · 5

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

2025 · Steven Laurie, Wouter Steyaert, et al. · Nature Medicine · 2

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

2021 · Elke de Boer, Charlotte W. Ockeloen, et al. · European Journal of Human Genetics · 2

Works count: 11

Citation count: 322

H-index: 6

I10-index: 6