James F. Gusella

Also affiliated with Harvard University, Massachusetts General Hospital, Boston VA Research Institute, Center for Systems Biology, Harvard Stem Cell Institute

NeuroscienceBiochemistry, 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 1%percentile

4.9Author 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.

A cross-disorder dosage sensitivity map of the human genome

Cell(2022)10.1016/j.cell.2022.06.036

Top 5%

4.7DataRank

Top 5%367 citations

Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella +46 more

Papers

Driven by 41 papers — median percentile 30. Top paper: “Amyloid Formation by Mutant Huntingtin: Threshold, Progressivity and Recruitment of Normal Polyglutamine Proteins”.

Amyloid Formation by Mutant Huntingtin: Threshold, Progressivity and Recruitment of Normal Polyglutamine Proteins

Somatic Cell and Molecular Genetics(1998)10.1023/b:scam.0000007124.19463.e5

N/A

11.4DataRank · unranked

278 citations

Peter W. Faber, Francesca Persichetti, Vivek Mittal, Jean-Paul Vonsattel, Marcy E. MacDonald +2 more

A cross-disorder dosage sensitivity map of the human genome

Cell(2022)10.1016/j.cell.2022.06.036

Top 5%

4.7DataRank

Top 5%367 citations

Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella +46 more

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out

Human Molecular Genetics(2020)10.1093/hmg/ddaa196

N/A

2.1DataRank · unranked

95 citations

Ricardo Mouro Pinto, Kyung‐Hee Kim, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Marissa A Andrew +11 more

A cross-disorder dosage sensitivity map of the human genome

medRxiv(2021)10.1101/2021.01.26.21250098

N/A

2.0DataRank · unranked

54 citations

Joseph Glessner, Eleonora Porcu, Lisa‐Marie Niestroj, Jacob C. Ulirsch, Georgios Kellaris +28 more

Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs

Human Molecular Genetics(2021)10.1093/hmg/ddaa283

N/A

1.2DataRank · unranked

38 citations

Yejin Lee, Douglas Barker, Kevin Correia, Baehyun Shin, Jacob M. Loupe +15 more

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Nature(2012)10.1038/nature11091

N/A

0.911DataRank · unranked

434 citations

Jason Willer, Michael E. Talkowski, Edwin C. Oh, Yu Taniguchi, Sébastien Jacquemont +10 more

Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat

Nature Communications(2024)10.1038/s41467-024-47485-0

N/A

0.832DataRank · unranked

40 citations

Dadi Gao, Kevin Correia, Jennie C. L. Roy, Shota Shibata, Iris N. Farnum +14 more

Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.05.012

N/A

0.652DataRank · unranked

76 citations

Eun Pyo Hong, Jun Wan Shin, Michael J. Chao, Jacob M. Loupe, Tammy Gillis +12 more

A Cdk5-derived peptide inhibits Cdk5/p25 activity and improves neurodegenerative phenotypes

Proceedings of the National Academy of Sciences(2023)10.1073/pnas.2217864120

N/A

0.617DataRank · unranked

60 citations

Jinsoo Seo, Audrey Lee, Oleg Kritskiy, Debasis Patnaik, Jay Penney +13 more

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects

Nature Genetics(2025)10.1038/s41588-025-02191-5

N/A

0.578DataRank · unranked

46 citations

Jong-Min Lee, Zachariah L. McLean, Kevin Correia, Jun Wan Shin, Sujin Lee +38 more

Significant underascertainment in Huntington’s disease

Brain Communications(2025)10.1093/braincomms/fcaf194

N/A

0.165DataRank · unranked

2 citations

Ben Weisburd, Jiwoo Lee, Kevin Correia, Sophia Zeng, Seri S. Park +10 more

The timing and impact of psychiatric, cognitive and motor abnormalities in Huntington’s disease

ORCA Online Research @Cardiff (Cardiff University)(2020)10.1101/2020.05.26.116798

Top 70%

0.150DataRank

Top 70%1 citations

James F. Gusella, G. Bernhard Landwehrmeyer, Jong-Min Lee, Marcy E. MacDonald, Michael Orth +6 more

Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.07.16.452643

N/A

0DataRank · unranked

1 citations

Branduff McAllister, Mia McDade‐Kumar, G. Bernhard Landwehrmeyer, Michael Orth, Anne Rosser +13 more

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.06.22.449452

N/A

0DataRank · unranked

0 citations

Rachita Yadav, Shivangi Shah, William T. Hendriks, Serkan Erdin, Dadi Gao +9 more

Genetic modifiers of Huntington disease differentially influence motor and cognitive domains

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.004

N/A

0DataRank · unranked

121 citations

Yuan Huang, Michael Orth, Tammy Gillis, Jacqueline Siciliano, Eunpyo Hong +23 more

Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset

Nature Neuroscience(2022)10.1038/s41593-022-01033-5

N/A

0DataRank · unranked

92 citations

Jasmine Donaldson, Caroline S. Binda, Sophie Powell, Uroosa Chughtai, Gareth Edwards +29 more

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.09.015

N/A

0DataRank · unranked

30 citations

Rachita Yadav, Eva D’haene, Philip M. Boone, Serkan Erdin, Dadi Gao +18 more

Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder

Nature Communications(2022)10.1038/s41467-022-30968-3

N/A

0DataRank · unranked

27 citations

Yingleong Chan, Pepper Dawes, Xiaoge Guo, Serkan Erdin, Derek J.C. Tai +15 more

CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing

Nucleic Acids Research(2022)10.1093/nar/gkac1134

N/A

0DataRank · unranked

26 citations

Michele Arnoldi, Takshashila Tripathi, Miguel Pellegrini, Samuele Maturi, Serkan Erdin +16 more

Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1

npj Genomic Medicine(2022)10.1038/s41525-022-00317-w

N/A

0DataRank · unranked

21 citations

Branduff McAllister, Mia McDade‐Kumar, G. Bernhard Landwehrmeyer, Michael Orth, Anne Rosser +13 more

Genetic modifiers of Huntington’s disease differentially influence motor and cognitive domains

medRxiv(2022)10.1101/2022.01.03.22268687

N/A

0DataRank · unranked

1 citations

Yuan Huang, Michael Orth, Tammy Gillis, Jacqueline Siciliano, Eunpyo Hong +23 more

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.02.15.480098

N/A

0DataRank · unranked

0 citations

Rachita Yadav, Eva D’haene, Philip M. Boone, Serkan Erdin, Dadi Gao +15 more

Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries

Cell Reports Methods(2023)10.1016/j.crmeth.2023.100672

N/A

0DataRank · unranked

4 citations

Nicholas D. Burt, Benjamin B Currall, Mariana Moysés‐Oliveira, Kiana Mohajeri, Riya Bhavsar +6 more

PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington’s disease

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.07.25.550489

N/A

0DataRank · unranked

2 citations

Dadi Gao, Kevin Correia, Jennie C. L. Roy, Shota Shibata, Iris N. Farnum +13 more

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.09.07.555775

N/A

0DataRank · unranked

0 citations

Philip M. Boone, Yongqing Huang, Kiran Garimella, Kar‐Tong Tan, Bianca Russell +13 more

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.006

N/A

0DataRank · unranked

23 citations

Philip M. Boone, Yongqing Huang, Kiran Garimella, Kar‐Tong Tan, Bianca Russell +17 more

Modification of Huntington’s disease by short tandem repeats

Brain Communications(2024)10.1093/braincomms/fcae016

N/A

0DataRank · unranked

12 citations

Eliana Marisa Ramos, N. Ahmad Aziz, Thomas H. Massey, Branduff McAllister, S. V. Lobanov +16 more

Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington’s disease

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322924121

N/A

0DataRank · unranked

10 citations

Eun Pyo Hong, Yukyeong Lee, Zachariah L. McLean, Emanuela Elezi, Ramee Lee +15 more

In vivo CRISPR–Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington’s disease

Nature Genetics(2025)10.1038/s41588-024-02054-5

N/A

0DataRank · unranked

59 citations

Ryan Murtha, António Azevedo, Cameron J. Douglas, Marina Kovalenko, Jessica Ulloa +17 more

Huntington’s disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.07.15.664798

N/A

0DataRank · unranked

0 citations

Wonju Kim, David H. Beier, Yejin Lee, Marina Kovalenko, Faaiza Saif +17 more

mTOR kinase inhibition disrupts neuregulin 1-ERBB3 autocrine signaling and sensitizes NF2-deficient meningioma cellular models to IGF1R inhibition

Journal of Biological Chemistry(2020)10.1074/jbc.ra120.014960

N/A

0DataRank · unranked

18 citations

Serkan Erdin, Luke Witt, Justin T. Jordan, Scott R. Plotkin, James F. Gusella +2 more

Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons

Molecular Autism(2020)10.1186/s13229-020-00354-1

N/A

0DataRank · unranked

21 citations

Tatsiana Aneichyk, Serkan Erdin, Derek J.C. Tai, Celine de Esch, Parisa Razaz +10 more

CHD8 Suppression Impacts on Histone H3 Lysine 36 Trimethylation and Alters RNA Alternative Splicing

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.03.14.992032

N/A

0DataRank · unranked

0 citations

Takshashila Tripathi, Serkan Erdin, Elisa Salviato, Francesca Di Leva, Endre Sebestyén +9 more

Data integration of bulk and single-cell transcriptomics from cerebral organoids and post-mortem brains to identify cell types and cell type specific driver genes in autism

Research Square(2020)10.21203/rs.3.rs-113869/v1

Top 100%

0DataRank

Top 100%0 citations

Yingleong Chan, Mannix J. Burns, Xiaoge Guo, Serkan Erdin, Derek J.C. Tai +13 more

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

UNC Libraries(2020)10.17615/tdb3-bx52

N/A

0DataRank · unranked

0 citations

Hemant Bengani, Joseph A. Marsh, Angela M. Kaindl, Koh-ichiro Yoshiura, Katharina Steindl +73 more

Huntington’s Disease Pathogenesis: Two Sequential Components

Journal of Huntington s Disease(2021)10.3233/jhd-200427

N/A

0DataRank · unranked

114 citations

Marcy E. MacDonald, Vanessa C. Wheeler, Lesley Jones, Peter Holmans, Michael Orth +6 more

16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

Nature Communications(2021)10.1038/s41467-021-23113-z

N/A

0DataRank · unranked

63 citations

Hannah Pinson, Richard S. Smith, Kellen D. Winden, Pooja Venugopal, Derek J.C. Tai +6 more

Huntington’s disease: nearly four decades of human molecular genetics

Human Molecular Genetics(2021)10.1093/hmg/ddab170

N/A

0DataRank · unranked

51 citations

Jong-Min Lee, Marcy E. MacDonald, James F. Gusella

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.09.017

N/A

0DataRank · unranked

23 citations

Rachita Yadav, Shivangi Shah, William T. Hendriks, Serkan Erdin, Dadi Gao +9 more

Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington’s Disease

Journal of Huntington s Disease(2021)10.3233/jhd-210485

N/A

0DataRank · unranked

8 citations

Michael J. Chao, Thomas H. Massey, Branduff McAllister, S. V. Lobanov, Lesley Jones +12 more

FAN1 nuclease activity affects CAG expansion and age at onset of Huntington’s disease

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.04.13.439716

N/A

0DataRank · unranked

3 citations

Jasmine Donaldson, Caroline S. Binda, Sophie Powell, Uroosa Chughtai, Gareth Edwards +29 more

James F. Gusella

Indexed papers

Top data-sharing exemplar

Papers