Author

Roberta Battini

University of PisaORCID 0000-0002-7889-1355Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:cell type annotation· 1 Research Focus:clustering· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Aditi Shah ParikhiD· 1 shared Alberto DanieliiD· 1 shared Alexandra LautarescuiD· 1 shared Amanda Openshaw· 1 shared Ana Blázquez Hinojosa· 1 shared Ana Pina RodriguesiD· 1 shared Andrea AccogliiD· 1 shared Ange‐Line BrueliD· 1 shared

Activity by Year

2022-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aditi Shah ParikhORCID

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3 papers

Recent·Most cited

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Angela Peron, Felice D’Arco, Kimberly A. Aldinger, Constance L. Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek, Kimberley Bradbury, Andrea Accogli, Erica Andersen, Ping Yee Billie Au, Roberta Battini, Daniah T. Beleford, Lynne M. Bird, Arjan Bouman, Ange‐Line Bruel, , Cristina Dias

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

European Journal of Human Genetics · Oct 24, 2024Peer-reviewedGenetic & Genomic Medicine

European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry

Madeleine Bloomfield, Alexandra Lautarescu, Síofra Heraty, Sarah Douglas, Pierre Violland, Jan Roderik Derk Plas, Anjuli Ghosh, Katrien Van den Bosch, Eliza Eaton, Michael Absoud, Roberta Battini, Ana Blázquez Hinojosa, Nadia Bolshakova, Sven Bölte, Paolo Bonanni, , Tony Charman

EAGER establishes a registry of autistic individuals and those with rare genetic conditions for genomic and phenotypic research, aiming to improve clinical trials and health outcomes through data sharing.

BMJ Open · Jun 1, 2024Peer-reviewedGenetic & Genomic Medicine

The amplitude of fNIRS hemodynamic response in the visual cortex unmasks autistic traits in typically developing children

Raffaele Mario Mazziotti, Elena Scaffei, Eugenia Conti, Viviana Marchi, Riccardo Rizzi, Giovanni Cioni, Roberta Battini, Laura Baroncelli

The paper measures fNIRS hemodynamic responses in children to correlate with autistic traits, finding HDR amplitude linked to social and communication features.

Translational Psychiatry · Feb 8, 2022Peer-reviewedNeuroscience