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

Giulia Barcia

Hôpital Necker-Enfants Malades

ORCID: 0000-0001-6657-5040

Also affiliated with Université de Pau et des Pays de l'Adour, Inserm, Université Paris Cité, Institut Necker Enfants Malades, Assistance Publique – Hôpitaux de Paris, Center for Genomic Science, Institut des Maladies Génétiques Imagine

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 8 papers. Top paper: “Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes”.

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

medRxiv(2025)10.1101/2025.08.13.25333306
N/A
0.269DataRank · unranked
5 citations

Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard +69 more

De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies

medRxiv(2021)10.1101/2021.12.07.21266342
N/A
0DataRank · unranked
3 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +67 more

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Brain(2022)10.1093/brain/awac145
N/A
0DataRank · unranked
36 citations

Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen +48 more

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Genetics in Medicine(2022)10.1016/j.gim.2022.09.015
N/A
0DataRank · unranked
17 citations

Yael Mozer‐Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger +56 more

Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51062
N/A
0DataRank · unranked
28 citations

Giulia Barcia, Manuela Pendziwiat, Shiva Ganesan, Stefanie H. Mueller, Katherine L. Helbig +14 more

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Science Translational Medicine(2023)10.1126/scitranslmed.abo3189
N/A
0DataRank · unranked
36 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +69 more

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology(2025)10.1002/ana.27272
N/A
0DataRank · unranked
8 citations

María Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual +75 more

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.013
N/A
0DataRank · unranked
43 citations

Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood +63 more