Alejandro Garanto

Also affiliated with Netherlands Institute for Sound and Vision, Radboud University Medical Center, Amalia Kinderziekenhuis, Newcastle University

Biochemistry, Genetics and Molecular BiologyMedicine

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: “De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa”.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Nature Genetics(2026)10.1038/s41588-025-02451-4

N/A

0.370DataRank · unranked

8 citations

Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero +212 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

Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.02.002

N/A

0DataRank · unranked

12 citations

Carlos R. Ferreira, Camiel J. F. Boon, Clara D.M. van Karnebeek, Nenad Blau, Alejandro Garanto

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

medRxiv(2025)10.1101/2025.01.06.24317169

N/A

0DataRank · unranked

15 citations

Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero +95 more