Shinya Yamamoto

Also affiliated with Kyoto University, Neurological Research Institute, Baylor Genetics

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 2%percentile

3.1Author DataRank

Indexed papers

3in 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 3 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 →

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

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01839-9

Top 9%

2.3DataRank

Top 9%84 citations

Dustin Baldridge, Michael F. Wangler, Angela N. Bowman, Shinya Yamamoto, Tim Schedl +7 more

Papers

Driven by 42 papers — median percentile 60. Top paper: “Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision”.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01839-9

Top 9%

2.3DataRank

Top 9%84 citations

Dustin Baldridge, Michael F. Wangler, Angela N. Bowman, Shinya Yamamoto, Tim Schedl +7 more

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

Human Molecular Genetics(2020)10.1093/hmg/ddaa081

N/A

1.1DataRank · unranked

41 citations

Lauren C. Briere, Oguz Kanca, Paul C. Marcogliese, Melissa Walker, Frances A. High +13 more

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0.564DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins

Cell Reports(2023)10.1016/j.celrep.2023.112842

Top 40%

0.475DataRank

Top 40%12 citations

Shenzhao Lu, Oguz Kanca, Daniel Bressan, Yan Huang, Mengqi Ma +22 more

ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

Human Mutation(2022)10.1002/humu.24364

N/A

0.425DataRank · unranked

16 citations

Lucian Li, Sanja Rogić, Guillaume Poirier‐Morency, Seon-Young Kim, Undiagnosed Diseases Network +8 more

Whole organism snRNA-seq reveals systemic peripheral changes in Alzheimer’s Disease fly models

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.03.10.584317

Top 45%

0.407DataRank

Top 45%9 citations

Tzu‐Chiao Lu, Tyler Jackson, Lindsey D. Goodman, L. Ran, Jiaye Chen +9 more

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

Genetics(2023)10.1093/genetics/iyad110

N/A

0.396DataRank · unranked

13 citations

Lauren C. Briere, Kristy L. Jay, Jonathan C. Andrews, Melissa Walker, Lance H. Rodan +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

0.292DataRank · unranked

6 citations

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

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

Brain(2021)10.1093/brain/awab409

N/A

0DataRank · unranked

17 citations

Jolien Roovers, Noor Smal, Candace T. Myers, Dilşad Türkdoğan, Filip Roelens +29 more

TM2D genes regulate Notch signaling and neuronal function in Drosophila

PLoS Genetics(2021)10.1371/journal.pgen.1009962

N/A

0DataRank · unranked

11 citations

Sheng-An Yang, Yong Lin, David Li‐Kroeger, Paul C. Marcogliese, Samantha L. Deal +3 more

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2020.12.30.424813

N/A

0DataRank · unranked

3 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +39 more

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.09.30.462504

N/A

0DataRank · unranked

3 citations

Lucian Li, Sanja Rogić, Guillaume Poirier‐Morency, Seon-Young Kim, Undiagnosed Diseases Network +8 more

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Cell Reports(2022)10.1016/j.celrep.2022.110517

N/A

0DataRank · unranked

52 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +56 more

Epithelial morphogenesis in the Drosophila egg chamber requires Parvin and ILK

Frontiers in Cell and Developmental Biology(2022)10.3389/fcell.2022.951082

N/A

0DataRank · unranked

2 citations

Evgenia Golegou, Eleni Psarra, Nikolaos Paschalidis, Konstantina Kalodimou, Shinya Yamamoto +4 more

De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.06.518921

N/A

0DataRank · unranked

0 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +9 more

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.009

N/A

0DataRank · unranked

13 citations

Ashish R. Deshwar, Yan Huang, Scott Barish, Xi Zhang, Sanaa Choufani +30 more

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

eLife(2023)10.7554/elife.89891

N/A

0DataRank · unranked

8 citations

Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael Crawford, Lauren C. Briere +8 more

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

(2023)10.7554/elife.89891.1

N/A

0DataRank · unranked

3 citations

Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael Crawford, Lauren C. Briere +8 more

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

(2023)10.7554/elife.89891.2

N/A

0DataRank · unranked

2 citations

Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael Crawford, Lauren C. Briere +8 more

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

medRxiv(2023)10.1101/2023.01.31.23285113

N/A

0DataRank · unranked

0 citations

Lauren C. Briere, Kristy Jay, Jonathan C. Andrews, Melissa Walker, Lance H. Rodan +6 more

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

medRxiv(2023)10.1101/2023.07.17.23292782

N/A

0DataRank · unranked

0 citations

Albert N. Alvarez, Mengqi Ma, Shenzhao Lu, Michael Crawford, Lauren C. Briere +8 more

AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders

NEJM AI(2024)10.1056/aioa2300009

N/A

0DataRank · unranked

45 citations

Chaozhong Liu, Linhua Wang, Rami AI-Ouran, Cole A. Deisseroth, Sasidhar Pasupuleti +18 more

Comparative exploration of mammalian deafness gene homologues in the Drosophila auditory organ shows genetic correlation between insect and vertebrate hearing

PLoS ONE(2024)10.1371/journal.pone.0297846

N/A

0DataRank · unranked

1 citations

Jonathan C. Andrews, Dylan M. Dolezal, Ye-Jin Park, Hongjie Li, Daniel F. Eberl +3 more

Loss of function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.06.578086

N/A

0DataRank · unranked

2 citations

Kristy Jay, Alden Y. Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +23 more

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

eLife(2024)10.7554/elife.95887

N/A

0DataRank · unranked

2 citations

Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo +25 more

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

medRxiv(2024)10.1101/2024.01.08.23300523

N/A

0DataRank · unranked

0 citations

Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo +25 more

Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models

medRxiv(2024)10.1101/2024.09.27.24314092

N/A

0DataRank · unranked

0 citations

Nikhita Gogate, Kim Ezell, Jonathan C. Andrews, Sharayu Jangam, Paige I. Hall +19 more

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome

Brain(2025)10.1093/brain/awaf035

N/A

0DataRank · unranked

9 citations

Sharayu Jangam, Martin MC Chui, Kayla Treat, Lorenzo Graziani, Alessia Soldano +24 more

Glucose uptake in pigment glia suppresses Tau-induced inflammation and photoreceptor degeneration

Disease Models & Mechanisms(2025)10.1242/dmm.052057

N/A

0DataRank · unranked

5 citations

Sho Nakajima, Emiko Suzuki, Shinya Yamamoto, Kanae Ando, Mikiko Oka

Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype–phenotype correlations and suggests its role in glial cells

Human Molecular Genetics(2025)10.1093/hmg/ddaf050

N/A

0DataRank · unranked

2 citations

H Hashimoto, Mikiko Oka, Jung-Wan Mok, Marium Waqar, Brigitte Dauwalder +4 more

Functional assays inDrosophilafacilitate classification of variants of uncertain significance associated with rare diseases

Genome Research(2025)10.1101/gr.278291.123

N/A

0DataRank · unranked

1 citations

Shelley Gibson, Haley A Dostalik, Shinya Yamamoto, Jung-Wan Mok

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Neuron(2020)10.1016/j.neuron.2020.02.021

N/A

0DataRank · unranked

165 citations

Michael F. Wangler, Paul C. Marcogliese, Ju-Yeon Jo, Thomas A. Ravenscroft, Zhongyuan Zuo +29 more

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101429

N/A

0DataRank · unranked

0 citations

Laura Mackay, Maria Blazo, Elizabeth Mizerik, Jozef Gécz, Renée Carroll +34 more

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.003

N/A

0DataRank · unranked

48 citations

Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia +48 more

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.04.001

N/A

0DataRank · unranked

45 citations

Xiao Mao, Hua Wang, Ye-Jin Park, Paul C. Marcogliese, Jill A. Rosenfeld +12 more

Post-Developmental Roles of Notch Signaling in the Nervous System

Biomolecules(2020)10.3390/biom10070985

N/A

0DataRank · unranked

43 citations

Sheng-An Yang, Shinya Yamamoto, Jose L. Salazar

Making sense out of missense mutations: Mechanistic dissection of Notch receptors through structure‐function studies inDrosophila

Development Growth & Differentiation(2020)10.1111/dgd.12640

N/A

0DataRank · unranked

25 citations

Shinya Yamamoto

Drosophila as a Model for Infectious Diseases

International Journal of Molecular Sciences(2021)10.3390/ijms22052724

N/A

0DataRank · unranked

72 citations

Nichole Link, Shinya Yamamoto, J. Michael Harnish

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.019

N/A

0DataRank · unranked

47 citations

Heidi Cope, Zelha Nil, Thomas A. Ravenscroft, Wu‐Lin Charng, Shenzhao Lu +42 more

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features

Human Molecular Genetics(2021)10.1093/hmg/ddab110

N/A

0DataRank · unranked

29 citations

Kelly Schoch, Sharayu Jangam, Venkata Hemanjani Bhavana, Hillary K. Graves, Sujay Kansagra +11 more

Shinya Yamamoto

Indexed papers

Top data-sharing exemplar

Papers