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

Eduardo Pérez‐Palma

Universidad del Desarrollo

ORCID: 0000-0003-0546-5141

Also affiliated with Clínica Alemana

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 4%percentile
0.764Author DataRank

Indexed papers

2in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology
Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Top data-sharing exemplar

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

Brain(2023)10.1093/brain/awad292
Top 30%
0.660DataRank
Top 30%23 citations

Eduardo Pérez‐Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Chiara Klöckner +41 more

Papers

Driven by 13 papers — median percentile 46. Top paper: “The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications”.

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Brain(2022)10.1093/brain/awac210
N/A
3.6DataRank · unranked
161 citations

Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki +30 more

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Brain(2020)10.1093/brain/awaa171
N/A
0.661DataRank · unranked
81 citations

Eduardo Pérez‐Palma, Daniel P. Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus +86 more

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

Brain(2023)10.1093/brain/awad292
Top 30%
0.660DataRank
Top 30%23 citations

Eduardo Pérez‐Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Chiara Klöckner +41 more

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A -Related Epilepsies

Neurology(2022)10.1212/wnl.0000000000200028
N/A
0.650DataRank · unranked
75 citations

Eduardo Pérez‐Palma, Ismael Ghanty, Xinge Ji, Eva H. Brilstra, Berten Ceulemans +17 more

Data-driven historical characterization of epilepsy-associated genes

European Journal of Paediatric Neurology(2022)10.1016/j.ejpn.2022.12.005
N/A
0.542DataRank · unranked
36 citations

Eduardo Pérez‐Palma, Javier A. López-Rivera, Alina Ivaniuk, Patrick May, Rikke S. Møller +2 more

Pathogenic paralogous variants can be used to apply the ACMG PS1 and PM5 variant interpretation criteria

medRxiv(2023)10.1101/2023.08.22.23294353
N/A
0.269DataRank · unranked
5 citations

Alina Ivaniuk, Eduardo Pérez‐Palma, Ludovica Montanucci, Stacey Cohen, Lacey Smith +6 more

Identification and quantification of oligogenic loss-of-function disorders

Genetics in Medicine(2021)10.1016/j.gim.2021.10.026
N/A
0.241DataRank · unranked
4 citations

Eduardo Pérez‐Palma, Marko Mrdjen, Megan McHugh, Costin Leu, Dennis Lal +1 more

Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson’s disease etiology across diverse ancestral populations

medRxiv(2025)10.1101/2025.05.21.25328076
Top 78%
0.104DataRank
Top 78%1 citations

Carlos F. Hernández, Esraa Eltaraifee, Ana J. Hernández-Medrano, Pin‐Jui Kung, Miriam Ostrožovičová +11 more

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

Brain(2022)10.1093/brain/awac305
N/A
0DataRank · unranked
26 citations

Eduardo Pérez‐Palma, Ludovica Montanucci, Michael Nothnagel, Rikke S. Møller, Stéphanie Schorge +8 more

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes

Research Square(2024)10.21203/rs.3.rs-5434140/v1
N/A
0DataRank · unranked
0 citations

Alina Ivanuk, Eduardo Pérez‐Palma, Ludovica Montanucci, Stacey Cohen, Lacey Smith +6 more

Polygenic score analysis identifies distinct genetic risk profiles in Alzheimer’s disease comorbidities

Scientific Reports(2025)10.1038/s41598-025-95755-8
N/A
0DataRank · unranked
5 citations

Camilo Villamán, Costin Leu, Dennis Lal, Ignácio F. Mata, Andrés D. Klein +2 more

Polygenic scores contribution to Parkinson’s disease comorbidities

Brain Communications(2025)10.1093/braincomms/fcaf325
N/A
0DataRank · unranked
2 citations

Camilo Villamán, Cristián Tejos, Gabriela M. Repetto, Costin Leu, Dennis Lal +4 more

Delineation of functionally essential protein regions for 242 neurodevelopmental genes

Brain(2022)10.1093/brain/awac381
N/A
0DataRank · unranked
17 citations

Tobias Brünger, Eduardo Pérez‐Palma, Marie Macnee, Andreas Brunklaus, Mark J. Daly +5 more