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

Laina Lusk

Children's Hospital of Philadelphia

ORCID: 0000-0001-9799-9890
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 9 papers. Top paper: “A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism”.

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.11.002
N/A
0DataRank · unranked
33 citations

Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires +21 more

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.06.02.492389
N/A
0DataRank · unranked
1 citations

Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires +20 more

Developmental epileptic encephalopathy in DLG4‐related synaptopathy

Epilepsia(2023)10.1111/epi.17876
N/A
0DataRank · unranked
15 citations

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

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus

medRxiv(2023)10.1101/2023.12.21.23300383
N/A
0DataRank · unranked
4 citations

Clarrisa A. Bradley, Jennifer Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum +22 more

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

medRxiv(2023)10.1101/2023.03.27.23287689
N/A
0DataRank · unranked
3 citations

Sydney L. Michener, Hongling Pan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa Lerma +40 more

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004
N/A
0DataRank · unranked
14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.11.003
N/A
0DataRank · unranked
10 citations

Clarrisa A. Bradley, Jennifer Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum +29 more

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

Science Translational Medicine(2025)10.1126/scitranslmed.adr0024
N/A
0DataRank · unranked
3 citations

Lei Cui, Nikita Budnik, Siwei Chen, Erick Olivares, David Báez-Nieto +14 more

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.04.23.650298
N/A
0DataRank · unranked
0 citations

Lei Cui, Nikita Budnik, Siwei Chen, Erick Olivares, David Báez-Nieto +11 more