Autism subtypes identified using cross-species functional connectivity analyses.
The 14 matches · 6 of them tie a paragraph to a whole file, not to given lines: weak matches, whose lines are not tinted
- [1] § Methods › Resting-state fMRI connectivity mapping ↔ rsfmri_preprocess_08_regress_nuisance.sh, lines 24–56 · score 0.85 · fsl_regfilt, nuisance regressed, ventricular mask, motion traces, fslmeants, template
- [2] § Results › fMRI dysconnectivity in 20 autism mouse models clusters into dominant hypoconnectivity and hyperconnectivity subtypes ↔ cluster-analysis/rsfmri_etiologies_clustering_04_hierarchical_clustering.R, lines 1–45 · score 0.83 · Ube3a, p11.2, q11.2, hierarchical clustering, En2, Fmr1
- [3] § Methods › Brain decoding and gene enrichment analyses ↔ gene_decoding_and_enrichment_analysis/01_initialization.r, the whole file · a weak match · score 0.78 · NeuroVault, FDR corrected, spatially correlated, donor, hypergeometric, decoding
- [4] § Methods › Resting-state fMRI connectivity mapping ↔ rsfmri_connectivity_mapping_01_global_connectivity.sh, lines 1–43 · score 0.72 · weighted degree centrality, global connectivity mapping, Python, Pearson, preprocessed, voxelwise
- [5] § Methods › Gene enrichment analysis ↔ cluster-analysis/rsfmri_etiologies_clustering_04_hierarchical_clustering.R, lines 1–45 · score 0.67 · p11.2, q11.2, Cntnap2, Shank3, BTBR, etiology
- [6] § Methods › fMRI dysconnectivity subtyping in autism-relevant mouse models ↔ cluster-analysis/rsfmri_etiologies_clustering_04_hierarchical_clustering.R, lines 48–105 · score 0.66 · hierarchical clustering, dendrogram, Euclidean, agglomerative, rows, heatmap
- [7] § Methods › Gene enrichment analysis ↔ gene_decoding_and_enrichment_analysis/02_enrichmentAnalyses.r, the whole file · a weak match · score 0.66 · mTOR, protein interaction, DB, seed, enrichment, gene
- [8] § Methods › Autism subtyping using fMRI connectivity ↔ cognitive_maps/conjunction_maps.sh, the whole file · a weak match · score 0.64 · conjunction map, global connectivity maps, components, subcortical, discover, voxels
- [9] § Methods › Brain decoding and gene enrichment analyses ↔ gene_decoding_and_enrichment_analysis/02_enrichmentAnalyses.r, the whole file · a weak match · score 0.64 · co expression modules, NeuroVault, tissues, enrichment, decoding, enriched
- [10] § Methods › fMRI dysconnectivity subtyping in autism-relevant mouse models ↔ cluster-analysis/rsfmri_etiologies_clustering_02_NbClust.R, lines 41–93 · score 0.61 · NbClust, Euclidean, optimal, rows, distance, etiological
- [11] § Methods › Resting-state fMRI preprocessing ↔ rsfmri_preprocess_06_skull_stripping.sh, lines 18–70 · score 0.60 · skull stripped, Brain mask, FAST, FSL, preprocessed
- [12] § Methods › Replicability of subtyping ↔ cognitive_maps/conjunction_maps.sh, the whole file · a weak match · score 0.60 · conjunction maps, brain maps, connectivity maps, thresholding, discovery, cluster
- [13] § Results › fMRI dysconnectivity in 20 autism mouse models clusters into dominant hypoconnectivity and hyperconnectivity subtypes ↔ cluster-analysis/rsfmri_etiologies_clustering_01_feature_extraction.sh, the whole file · a weak match · score 0.55 · ube3a, En2, Fmr1, Sgsh, Tsc2, Voxelwise
- [14] § Methods › Resting-state fMRI preprocessing ↔ rsfmri_preprocess_00_extract_from_bruker.sh, lines 1–78 · score 0.52 · AFNI, tool, preprocessed, FSL, timeseries, MRI
Paper
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The authors' code
R · 108 lines · 4.1 KB · no license · 3 matches
- # this procedure performs agglomerative cluster analysis and gives cluster membership
- #
- # quarda anche questo pacchetto nel caso
- # https://www.datanovia.com/en/lessons/heatmap-in-r-static-and-interactive-visualization/
- # https://www.rdocumentation.org/packages/stats/versions/3.6.2/topics/hclust
- # https://www.rdocumentation.org/packages/stats/versions/3.6.2/topics/dist
- #
- # ricordati che se hai troppe colonne (voxels), la visualizzazione crasha di conseguenza fai downsampling!)
- # https://www.rdocumentation.org/packages/grDevices/versions/3.4.1/topics/png
- # loading required libraries
- library('gplots')
- library('corrplot')
- library('RColorBrewer')
- library('ggplot2')
- # loading feature matrix
- feature_by_etiology_matrix <- as.matrix(read.table("/media/DATA1/rsfMRI_all_autism_mutations_Marie_Curie/06_20_etiologies_IL6/03_clustering/02/02_features_for_clustering_txt/feature_etiology_matrix.txt", sep = " "))
- # renaming etiologies
- colnames(feature_by_etiology_matrix)[1] <- '16p11.2'
- colnames(feature_by_etiology_matrix)[2] <- 'Btbr'
- colnames(feature_by_etiology_matrix)[3] <- 'Cdkl5 [ht]'
- colnames(feature_by_etiology_matrix)[4] <- 'Cdkl5 [ko]'
- colnames(feature_by_etiology_matrix)[5] <- 'Chd8'
- colnames(feature_by_etiology_matrix)[6] <- 'Cntnap2'
- colnames(feature_by_etiology_matrix)[7] <- 'En2'
- colnames(feature_by_etiology_matrix)[8] <- 'Fmr1'
- colnames(feature_by_etiology_matrix)[9] <- 'Il6'
- colnames(feature_by_etiology_matrix)[10] <- '22q11.2'
- colnames(feature_by_etiology_matrix)[11] <- 'Mecp2'
- colnames(feature_by_etiology_matrix)[12] <- 'Nlgn3-R451'
- colnames(feature_by_etiology_matrix)[13] <- 'Nlgn3 [ko]'
- colnames(feature_by_etiology_matrix)[14] <- 'Oxtr'
- colnames(feature_by_etiology_matrix)[15] <- 'Sgsh'
- colnames(feature_by_etiology_matrix)[16] <- 'Shank3'
- colnames(feature_by_etiology_matrix)[17] <- 'Syn2'
- colnames(feature_by_etiology_matrix)[18] <- 'Trem2'
- colnames(feature_by_etiology_matrix)[19] <- 'Tsc2'
- colnames(feature_by_etiology_matrix)[20] <- 'Ube3a'
- # transposing the matrix. Here I transpose because I want
- # etiologies to be the raws
- etiology_by_feature_matrix <- t(feature_by_etiology_matrix)
- # dimensions of the matrix
- dim(etiology_by_feature_matrix)
- # in case needed, this subsets the matrix - too large matrices don't get visualised by R
- # etiology_by_feature_matrix_subset <- etiology_by_feature_matrix[c(1:20),c(1:100)]
- # loading and reversing color palettes
- hmcol <- rev(colorRampPalette(brewer.pal(11, "RdBu"))(256))
- # set the maximum and minimum value of the colorbar
- range_colors = seq(from = -1.2, to = 1.2, by = 0.009375)
- # saving the figure in tiff
- png(filename = "/media/DATA1/rsfMRI_all_autism_mutations_Marie_Curie/06_20_etiologies_IL6/03_clustering/02/dendrogram.png",
- width = 15,
- height = 10,
- units = "cm",
- res= 600,
- pointsize = 4)
- # visualising the matrix with agglomerative clustering (about 1 minute to plot)
- matrix_with_dendrogram <- heatmap.2(etiology_by_feature_matrix,
- Rowv = T, # cluster rows
- Colv = T, # don't cluster columns
- symm = F, # matrix is not symmetrical
- revC = T,
- distfun = function(x) dist(x, method = "euclidean"), # define distance metrics
- hclustfun = function(x) hclust(x, method = "ward.D2"), # define clustering method (complete, ward.D2)
- trace = c("none"), # don't display trace
- dendrogram = "row", # show dendrogram
- col = hmcol, # color of the cells
- key = T,
- key.title = NA,
- key.xlab = "Cohen's d",
- density.info = "none",
- keysize = 1,
- cexRow = 3.5, # size labels x-axis
- cexCol = 0.01, # size labels y-axis, practically not visible
- breaks = range_colors,
- margins = c(1,15),
- labRow=as.expression(lapply(rownames(etiology_by_feature_matrix), function(a) bquote(italic(.(a)))))
- )
- dev.off()
- # save and write sorted matrix
- sorted_matrix_csv <- etiology_by_feature_matrix[rev(matrix_with_dendrogram$rowInd), matrix_with_dendrogram$colInd]
- write.table(sorted_matrix_csv, file = "sorted_etiology_by_feature_matrix.csv", sep = ",", dec = ".", row.names = TRUE, col.names = FALSE)
rsfmri_etiologies_clustering_04_hierarchical_clustering.R at commit ef58cf1, no license · at the source
Overview
27 affiliations
- Functional Neuroimaging Laboratory, Istituto Italiano di Tecnologia, Center for Neuroscience and Cognitive Systems,Rovereto, Italy
- Autism Center, Child Mind Institute,New York, NY USA
- IMT School for Advanced Studies,Lucca, Italy
- Department of Psychiatry, University of Geneva,Geneva, Switzerland
- Department of Basic Neurosciences, University of Geneva,Geneva, Switzerland
- Center for Mind and Brain Sciences (CIMeC), University of Trento,Rovereto, Italy
- Brain Research Institute, University of Zurich,Zurich, Switzerland
- Adaptive Decisions Lab, Blizard Institute, Queen Mary University of London,London, UK
- Department of Pharmacology, University of Oxford,Oxford, UK
- Synaptic Plasticity of Inhibitory Networks, Istituto Italiano di Tecnologia,Genova, Italy
- Centre for Craniofacial and Regenerative Biology, King’s College London,London, UK
- Department of Clinical and Biomedical Sciences, University of Exeter,Exeter, UK
- Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital,Toronto, Ontario Canada
- Boston Children’s Hospital, Harvard Medical School,Boston, MA USA
- International Research Center for Neurointelligence, University of Tokyo,Tokyo, Japan
- Oxford Centre for Integrative Neuroimaging, FMRIB, Nuffield Department of Clinical Neurosciences, University of Oxford,Oxford, UK
- Mouse Imaging Centre, The Hospital for Sick Children,Toronto, Ontario Canada
- Department of Medical Biophysics, University of Toronto,Toronto, Ontario Canada
- Department of Biomedical Sciences, Humanitas University,Milan, Italy
- IRCCS Humanitas Research Hospital,Milan, Italy
- Present Address: IRCCS Ospedale Policlinico San Martino,Genova, Italy
- Department of Cellular, Computational and Integrative Biology. University of Trento,Trento, Italy
- National Center for Rare Diseases, Istituto Superiore di Sanità,Rome, Italy
- Neural Control of Movement Lab, ETH Zürich,Zurich, Switzerland
- Center for Integrative Developmental Neuroscience, Child Mind Institute,New York, NY USA
- Laboratory for Autism and Neurodevelopmental Disorders, Istituto Italiano di Tecnologia, Center for Neuroscience and Cognitive Systems,Rovereto, Italy
- Center for Biomedical Imaging and Neuromodulation, Nathan S. Kline Institute for Psychiatric Research,Orangeburg, NY USA
Abstract
It is often assumed that phenotypic heterogeneity in autism reflects underlying pathobiological variation. However, direct evidence supporting this link is lacking. Leveraging cross-species functional neuroimaging, we show that brain dysconnectivity patterns in autism can be parsed into biologically dissociable subtypes. Specifically, we found that functional magnetic resonance imaging (fMRI) connectivity alterations in 20 distinct genetic mouse models of autism cluster into hypoconnectivity-dominan
Reproduced under the paper's license (CC BY), from the paper cited above.
Repositories
Its files are read in the Code ↔ Paper reader above, with 14 matches between paragraphs and lines of code.
functional-neuroimaging/rsfMRI-preprocessing
fee4517511eb1ab7858ef0ec87e868df84e47852, 26 October 2022Availability: 1 check, the latest on 28 September 2026: the link answers
- 28 September 2026: the link answers
12 files
- rsfmri_preprocess_00_ext
ract_from_bruker.sh , Shell, 193 lines, 1 match - rsfmri_preprocess_01_del
ete_folders.sh , Shell, 21 lines - rsfmri_preprocess_02_cha
nge_tr.sh , Shell, 33 lines - rsfmri_preprocess_03_rem
ove_first_50_volumes.sh , Shell, 29 lines - rsfmri_preprocess_04_des
pike.sh , Shell, 35 lines - rsfmri_preprocess_05_mot
ion_correct.sh , Shell, 47 lines - rsfmri_preprocess_06_sku
ll_stripping.sh , Shell, 79 lines, 1 match - rsfmri_preprocess_07_reg
istration.sh , Shell, 99 lines - rsfmri_preprocess_08_reg
ress_nuisance.sh , Shell, 66 lines, 1 match - rsfmri_preprocess_09_ban
dpass_filter.sh , Shell, 63 lines - rsfmri_preprocess_10_smo
oth.sh , Shell, 37 lines - README.md, Text, 105 lines
functional-neuroimaging/rsfMRI-global-local-connectivity
d93d2145761f46e2542bbec52b0976928164d659, 8 July 2021Availability: 1 check, the latest on 28 September 2026: the link answers
- 28 September 2026: the link answers
5 files
- dcbc.py, Python, 80 lines
- rsfmri_connectivity_mapp
ing_01_global_connectivi , Shell, 68 lines, 1 matchty.sh - rsfmri_connectivity_mapp
ing_02_local_connectivit , Shell, 48 linesy.sh - rsfmri_connectivity_mapp
ing_03_two_sample_ttest. , Shell, 69 linessh - rsfmri_connectivity_mapp
ing_04_cluster_correctio , Shell, 84 linesn.sh
functional-neuroimaging/gene_decoding_and_enrichment
3594ce91c8222e51f7d9ec16402ab26baf14baab, 17 September 2021Availability: 1 check, the latest on 28 September 2026: the link answers
- 28 September 2026: the link answers
5 files
- gene_decoding_and_enrich
ment_analysis/ , R, 22 lines, 1 match01_initialization.r - gene_decoding_and_enrich
ment_analysis/ , R, 62 lines, 2 matches02_enrichmentAnalyses.r - gene_decoding_and_enrich
ment_analysis/ , R, 69 linesgene_decode.r - gene_decoding_and_enrich
ment_analysis/ , R, 100 linesgenelistOverlap.r - README.md, Text, 2 lines
functional-neuroimaging/biological_subtyping
ef58cf1622e5b60885919d108b6033d78be84d52, 28 April 2026Availability: 1 check, the latest on 28 September 2026: the link answers
- 28 September 2026: the link answers
10 files
- cluster-analysis/
rsfmri_etiologies_cluste , Shell, 87 lines, 1 matchring_01_feature_extracti on.sh - cluster-analysis/
rsfmri_etiologies_cluste , R, 94 lines, 1 matchring_02_NbClust.R - cluster-analysis/
rsfmri_etiologies_cluste , R, 37 linesring_03_elbow_method.R - cluster-analysis/
rsfmri_etiologies_cluste , R, 108 lines, 3 matchesring_04_hierarchical_clu stering.R - cognitive_maps/
conjunction_maps.sh , Shell, 55 lines, 2 matches - connectograms/
rsfmri_human_clustering_ , Shell, 55 lines00_extract_mean_connecti vity.sh - connectograms/
rsfmri_human_clustering_ , Shell, 17 lines01_extract_voxelwise_mea n_connectivity_across_su bjects.sh - connectograms/
rsfmri_human_clustering_ , R, 103 lines02_regressing_out_mean_c onnectivity.R - connectograms/
rsfmri_human_clustering_ , Shell, 35 lines03_adding_back_the_mean_ of_voxels_cross_subjects .sh - connectograms/
rsfmri_human_clustering_ , Shell, 1 line04_use_GUI_of_NBS.sh
Code availability
The code used for preprocessing mouse fMRI data is available at https://
Reproduced under the paper's license (CC BY), from the paper cited above.
Tracing map
Proposed by the machine: these links were found in the paper and verified at the source, without human review. The map will receive a Zenodo DOI once one of the paper's authors has validated it with their ORCID.
What the map holds:
- 4 repositories of the authors' code, each at its verified commit, with its license and how the link was found in the paper;
- 30 scripts, each with its path and the digest of its content;
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Its JSON (tracing-map.json) is deposited on Zenodo with its DOI once the map is validated.
Data
No dataset and no data link were found in the paper.
Data availability
Raw mouse fMRI timeseries can be download from https://
Reproduced under the paper's license (CC BY), from the paper cited above.
Versions
The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.
Version 2, 28 September 2026
- Publisher: n/a → Nature Portfolio
Version 1, 28 September 2026: the first record
Recorded: type, language, journal, volume, issue, pages, dates, 23 authors, 2 keywords, 12 MeSH terms, 1 funder, 124 references.
Cite
This paper
Pagani, M., Zerbi, V., Gini, S., Alvino, F. G., Banerjee, A., Barberis, A., Basson, M. A., Bozzi, Y., Galbusera, A., Ellegood, J., Fagiolini, M., Lerch, J. P., Matteoli, M., Montani, C., Pozzi, D., Provenzano, G., Scattoni, M. L., Wenderoth, N., Xu, T., . . . Gozzi, A. (2026). Autism subtypes identified using cross-species functional connectivity analyses. Nature neuroscience, 29(6), 1476-1487. https://
BibTeX
@article{pagani2026autis
author = {Pagani, Marco and Zerbi, Valerio and Gini, Silvia and Alvino, Filomena Grazia and Banerjee, Abhishek and Barberis, Andrea and Basson, M. Albert and Bozzi, Yuri and Galbusera, Alberto and Ellegood, Jacob and Fagiolini, Michela and Lerch, Jason P. and Matteoli, Michela and Montani, Caterina and Pozzi, Davide and Provenzano, Giovanni and Scattoni, Maria Luisa and Wenderoth, Nicole and Xu, Ting and Lombardo, Michael V. and Milham, Michael P. and Di Martino, Adriana and Gozzi, Alessandro},
title = {{Autism subtypes identified using cross-species functional connectivity analyses}},
journal = {Nature neuroscience},
year = {2026},
month = may,
volume = {29},
number = {6},
pages = {1476--1487},
publisher = {Nature Portfolio},
issn = {1097-6256},
doi = {10.1038/
url = {https://
pmid = {42141307},
pmcid = {PMC13246445}
}
RIS
TY - JOUR
AU - Pagani, Marco
AU - Zerbi, Valerio
AU - Gini, Silvia
AU - Alvino, Filomena Grazia
AU - Banerjee, Abhishek
AU - Barberis, Andrea
AU - Basson, M. Albert
AU - Bozzi, Yuri
AU - Galbusera, Alberto
AU - Ellegood, Jacob
AU - Fagiolini, Michela
AU - Lerch, Jason P.
AU - Matteoli, Michela
AU - Montani, Caterina
AU - Pozzi, Davide
AU - Provenzano, Giovanni
AU - Scattoni, Maria Luisa
AU - Wenderoth, Nicole
AU - Xu, Ting
AU - Lombardo, Michael V.
AU - Milham, Michael P.
AU - Di Martino, Adriana
AU - Gozzi, Alessandro
TI - Autism subtypes identified using cross-species functional connectivity analyses
T2 - Nature neuroscience
J2 - Nat Neurosci
PY - 2026
DA - 2026/
VL - 29
IS - 6
SP - 1476
EP - 1487
SN - 1097-6256
PB - Nature Portfolio
DO - 10.1038/
UR - https://
LA - en
ER -
CSL-JSON
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