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

Alberto Fernández‐Jaén

Hospital Universitario Quirónsalud Madrid

ORCID: 0000-0003-3306-9832

Also affiliated with Universidad Europea de Madrid

MedicineBiochemistry, Genetics and Molecular BiologyPsychology

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 10 papers. Top paper: “An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome”.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.014
N/A
0.546DataRank · unranked
37 citations

Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Hans T. Björnsson +57 more

Developmental epileptic encephalopathy in DLG4‐related synaptopathy

Epilepsia(2023)10.1111/epi.17876
N/A
0.434DataRank · unranked
17 citations

Amanda M. Levy, Elena Gardella, Ángel Aledo‐Serrano, Amitha Ananth, Alejandro Brea‐Fernández +59 more

Autism-associated MDGA1 missense mutations impair distinct facets of central nervous system development

medRxiv(2025)10.1101/2025.06.07.25328825
N/A
0.104DataRank · unranked
1 citations

H. J. Kim, Javier Porta Pelayo, Sara Álvarez Solas, Gyubin Jang, Jinhu Kim +18 more

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

Nature Communications(2022)10.1038/s41467-022-31566-z
N/A
0DataRank · unranked
39 citations

Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim +35 more

GIGYF1 disruption associates with autism and impaired IGF-1R signaling

Journal of Clinical Investigation(2022)10.1172/jci159806
N/A
0DataRank · unranked
32 citations

Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Qiumeng Zhang +29 more

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.007
N/A
0DataRank · unranked
40 citations

Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha +77 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Research Square(2023)10.21203/rs.3.rs-3317938/v1
N/A
0DataRank · unranked
4 citations

Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin +57 more

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders

Genome Medicine(2025)10.1186/s13073-025-01513-w
N/A
0DataRank · unranked
4 citations

Hyunsoo Jang, Seungbok Lee, Se Song Jang, Soojin Park, Jaeso Cho +20 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Nature Communications(2025)10.1038/s41467-025-64838-5
N/A
0DataRank · unranked
4 citations

Keqin Yan, Raissa Relator, Mathieu Lévesque, P.S. Jayasinghe, Sara Timpano +61 more

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.018
N/A
0DataRank · unranked
93 citations

Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti +45 more