Author

Célia Barreto Carvalho

Universidade dos AçoresORCID 0000-0003-4453-8139Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Ayman H. FanousiD· 2 shared Hamed KazemiiD· 2 shared Helena MedeirosiD· 2 shared John Drake· 2 shared Michele T. PatoiD· 2 shared Silviu‐Alin BacanuiD· 2 shared Vladimir I. VladimiroviD· 2 shared Alison K. MerikangasiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ayman H. FanousORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenomic psychiatry :Peer-reviewedJun 16, 2026

Multiplex Portuguese Families as a Lens into rare mutations and the Shared Genetic Architecture of Schizophrenia, Mood Disorders, and Autism Spectrum Disorders

Carlos N. Pato, Michele T. Pato, Jennifer Mulle…·Ayman H. Fanous

This study analyzes 173 multiplex Portuguese families to identify rare genetic variants associated with schizophrenia, mood disorders, and autism, finding a CHD2 mutation linked to diverse mental illness phenotypes.

1 citation

humanwhole-genome sequencing

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Genetic & Genomic MedicinemedRxivPreprintJun 1, 2026

Gene-Set Based Rare Variant Association Analysis of Whole Genome Sequencing Data in the Portuguese Island Collection for Schizophrenia and Bipolar Disorder

Hamed Kazemi, John Drake, Tim Bigdeli…·Ayman H. Fanous

The paper performs rare variant association analysis using whole-genome sequencing data from the Portuguese Island Collection to identify shared genetic pathways in schizophrenia and bipolar disorder.

DOI 10.64898/2026.05.28.26354351

humanwhole-genome sequencing

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