Author

Alessia Fiorentino

University College LondonORCID 0000-0002-1403-4581Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 3 Bioinformatics· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:statistical model· 4 Research Focus:GWAS / association mapping· 3 Assay:GWAS summary statistics· 3 Organism:human· 3 Research Focus:database / resource· 2 Research Focus:polygenic risk· 2 Assay:scRNA-seq· 2 Approach:Bayesian inference· 1

Frequent Co-Authors

Jakob GroveiD· 3 shared Jonas Bybjerg‐GrauholmiD· 3 shared Mariam M. AlEissaiD· 3 shared Nelson B. FreimeriD· 3 shared Nicholas James BassiD· 3 shared Tim B. BigdeliiD· 3 shared Alison J. HardcastleiD· 2 shared Andrea Hilary NemethiD· 2 shared

Activity by Year

2017-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Jakob GroveORCID

Mutual co-authors in cluster

Author profile →

5 papers

Recent·Most cited

Genetic & Genomic MedicineNaturePeer-reviewedApr 8, 2022

✦ In-depth digest

Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia

Vassily Trubetskoy, Antonio F. Pardiñas, Ting Qi…·Elliot S. Gershon

A genome-wide association study of 69,369 schizophrenia cases and 236,642 controls identifies 270 risk loci, prioritizes 130 genes, and links common and rare risk variants to neuronal synaptic biology.

2,956 citationstop 1%

humanmouse

𝕏 PostBluesky

Genetic & Genomic MedicineNaturePeer-reviewedApr 8, 2022

✦ In-depth digest

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

Tarjinder Singh, Timothy Poterba, David Curtis…·David St Clair

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.

979 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMay 17, 2021

✦ In-depth digest

Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology

Niamh Mullins, Andreas J. Forstner, Kevin Sean O’Connell…·Janos L. Kalman

Meta-analysis of 41,917 European-ancestry bipolar disorder cases versus 371,549 controls yields 64 risk loci (33 novel), neuronal and synaptic gene enrichment, and 15 eQTL-prioritized genes.

1,517 citationstop 1%

humanGWAS summary statistics

𝕏 PostBluesky

BioinformaticsBioinformaticsPeer-reviewedJun 13, 2017

Pheno4J: A Gene To Phenotype Graph Database

Sajid Mughal, Ismail Moghul, Jing Yu…·David S Gregory

Pheno4J stores and queries genetic and phenotypic data in a graph database to improve efficiency for clinical genetic research.

13 citations

graph neural networkdatabase / resource

𝕏 PostBluesky

BioinformaticsBioinformaticsPeer-reviewedMar 14, 2017

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Nikolas Pontikos, Jing Yu, Ismail Moghul…·Vincent Plagnol

Phenopolis provides an open platform for integrating and analyzing sequencing and phenotype data to aid in clinical diagnosis and gene discovery.

52 citationstop 4%

whole-genome sequencingstatistical model

𝕏 PostBluesky