Stefania Bigoni

Biochemistry, Genetics and Molecular BiologyNeuroscience

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: “PURA- Related Developmental and Epileptic Encephalopathy”.

PURA- Related Developmental and Epileptic Encephalopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000613

N/A

0.596DataRank · unranked

52 citations

Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders +95 more

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge

Human Genetics(2025)10.1007/s00439-025-02733-1

N/A

0.312DataRank · unranked

7 citations

Alessio Del Conte, Roberta Polli, Demetrio Baldo, Francesco Benedicenti, Elisa Bettella +18 more

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.02.001

N/A

0DataRank · unranked

48 citations

Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard +32 more

Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patients

Research Square(2023)10.21203/rs.3.rs-3139796/v1

N/A

0DataRank · unranked

2 citations

Alessio Del Conte, Roberta Polli, Demetrio Baldo, Francesco Benedicenti, Elisa Bettella +17 more