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

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Mafalda Barbosa

Mafalda Barbosa

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: “Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism”.

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Cell(2020)10.1016/j.cell.2019.12.036

N/A

9.5DataRank · unranked

2470 citations

Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, Joon‐Yong An +95 more

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.07.003

N/A

0DataRank · unranked

54 citations

Paras Garg, Lara Tang, Danielle Mendonca, Tess Levy, Mafalda Barbosa +24 more

Episignatures stratifying ADNP syndrome show modest correlation with phenotype

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.04.01.014902

N/A

0DataRank · unranked

7 citations

Paras Garg, Lara Tang, Danielle Mendonca, Tess Levy, Mafalda Barbosa +23 more

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability

medRxiv(2023)10.1101/2023.05.03.23289461

N/A

0DataRank · unranked

7 citations

Paras Garg, Joke J.F.A. van Vugt, Kristina Ibáñez, Delia Gagliardi, William Lee +16 more

A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease

American Journal of Kidney Diseases(2024)10.1053/j.ajkd.2023.12.011

N/A

0DataRank · unranked

12 citations

Kayleigh D. Rutherford, Anisha J. Cooke, Malorie Meshkati, Vanessa Eddy-Abrams, Daniel Greene +20 more

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability

Nature Genetics(2024)10.1038/s41588-024-01917-1

N/A

0DataRank · unranked

11 citations

Paras Garg, Joke J.F.A. van Vugt, Kristina Ibáñez, Delia Gagliardi, William Lee +19 more

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Nature Communications(2025)10.1038/s41467-025-61712-2

N/A

0DataRank · unranked

5 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +95 more

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

medRxiv(2025)10.1101/2025.08.26.25334179

N/A

0DataRank · unranked

10 citations

Rodrigo Mendez, Jonathan Lees, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti +17 more