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

Kosuke Izumi

Ehime University

ORCID: 0000-0002-7922-7480

Also affiliated with The University of Texas Southwestern Medical Center

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 3%percentile
0.930Author DataRank

Indexed papers

2in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology
Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Top data-sharing exemplar

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Clinical variants paired with phenotype: A rich resource for brain gene curation

Genetics in Medicine(2023)10.1016/j.gim.2023.101035
Top 35%
0.557DataRank
Top 35%11 citations

Juliann M. Savatt, Taylor I. Bingaman, Molly Good, Alexis Morgan, Caitlin Cooney +37 more

Papers

Driven by 19 papers — median percentile 58. Top paper: “Clinical variants paired with phenotype: A rich resource for brain gene curation”.

Clinical variants paired with phenotype: A rich resource for brain gene curation

Genetics in Medicine(2023)10.1016/j.gim.2023.101035
Top 35%
0.557DataRank
Top 35%11 citations

Juliann M. Savatt, Taylor I. Bingaman, Molly Good, Alexis Morgan, Caitlin Cooney +37 more

The Brain Gene Registry: a data snapshot

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09530-3
Top 48%
0.373DataRank
Top 48%11 citations

Levi Kaster, Catherine Sancimino, Siddharth Srivastava, Sophie Molholm, Aditi Gupta +58 more

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Human Mutation(2021)10.1002/humu.24308
N/A
0DataRank · unranked
20 citations

Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane Yeboa +54 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00373-5
N/A
0DataRank · unranked
1 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

The Journal of Experimental Medicine(2023)10.1084/jem.20221755
N/A
0DataRank · unranked
114 citations

Daniel Leung, Mana Momenilandi, Lauren C.W. Jones, Lucia Pacillo, Alyssa James +89 more

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63247
N/A
0DataRank · unranked
41 citations

Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence +92 more

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation

Journal of Biological Chemistry(2023)10.1016/j.jbc.2023.105012
N/A
0DataRank · unranked
17 citations

Anika L. Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Simon Edvardson +6 more

Expansion of clinical and variant spectrum of EEF2‐related neurodevelopmental disorder: Report of two additional cases

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63230
N/A
0DataRank · unranked
4 citations

Alyssa L. Rippert, Edward Cook, Cesar Alves, Lynne M. Bird, Kosuke Izumi +1 more

Dominant-negative variants in CBX1 cause a neurodevelopmental disorder

Genetics in Medicine(2023)10.1016/j.gim.2023.100861
N/A
0DataRank · unranked
7 citations

Aiko Iwata‐Otsubo, Kerith‐Rae Dias, Suzanna E.L. Temple, Koji Nagao, Lachlan De Hayr +28 more

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development

Molecular Syndromology(2023)10.1159/000530197
N/A
0DataRank · unranked
5 citations

Rebecca Ganetzky, Gerald Wertheim, Cara Skraban, Emma Bedoukian, Alisha Wilkens +7 more

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.15.532669
N/A
0DataRank · unranked
4 citations

Anika L. Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Simon Edvardson +6 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121
N/A
0DataRank · unranked
6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174
N/A
0DataRank · unranked
4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

Human Genetics(2024)10.1007/s00439-024-02656-3
N/A
0DataRank · unranked
2 citations

Cara Skraban, Atsunori Yoshimura, Toyonori Sakata, Cesar Alves, Sarah K. Fiordaliso +16 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

medRxiv(2024)10.1101/2024.01.09.23300329
N/A
0DataRank · unranked
1 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +67 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Nature Communications(2025)10.1038/s41467-025-56876-w
N/A
0DataRank · unranked
2 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +77 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62124
N/A
0DataRank · unranked
72 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

An Unusual Cause of Hexokinase 1 Deficiency—Case Report

eJHaem(2025)10.1002/jha2.70123
N/A
0DataRank · unranked
0 citations

Kelly Maurer, Tanaya Jadhav, Tejas Jammihal, Zhe Zhang, Helge Hartung +11 more

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.010
N/A
0DataRank · unranked
21 citations

Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman +23 more