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

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Jorune Balciuniene

Jorune Balciuniene

ORCID: 0000-0001-8063-5302

Biochemistry, Genetics and Molecular Biology

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 5 papers. Top paper: “Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior”.

Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

medRxiv(2020)10.1101/2020.09.09.20187104

N/A

0DataRank · unranked

9 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +71 more

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Genetics in Medicine(2021)10.1038/s41436-021-01114-z

N/A

0DataRank · unranked

93 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +76 more

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.12.006

N/A

0DataRank · unranked

29 citations

Jorune Balciuniene, Maria Alejandra Diaz‐Miranda, Elizabeth M. McCormick, Erfan Aref-Eshghi, Alison M. Muir +14 more

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Brain(2022)10.1093/brain/awac330

N/A

0DataRank · unranked

32 citations

Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M. Butler, Alison Schreiber +51 more

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

Genetics in Medicine(2025)10.1016/j.gim.2025.101618

N/A

0DataRank · unranked

4 citations

Julie Yeo, Thomas Minten, Rose Heald, Derek Ansel, Mei Baker +89 more