Author

Fátima Lopes

University of MinhoORCID 0000-0001-9028-5668Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Jennifer G. Reichert· 2 shared Mafalda BarbosaiD· 2 shared Patrı́cia MacieliD· 2 shared Silvia De RubeisiD· 2 shared Aarno V. PalotieiD· 1 shared Alejandro Martin-TrujilloiD· 1 shared Alexander KolevzoniD· 1 shared Alfredo BruscoiD· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Jennifer G. Reichert

Mutual co-authors in cluster

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2 papers

Recent·Most cited

GeneticsCellPeer-reviewedJan 1, 2019

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang…·Kaija Puura

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

2,321 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky

GenomicsNature CommunicationsPeer-reviewedMay 21, 2018

Identification of rare de novo epigenetic variations in congenital disorders

Mafalda Barbosa, Ricky S. Joshi, Paras Garg…·Andrew J. Sharp

The paper identifies de novo epigenetic variations in congenital disorders and shows their impact on gene expression and potential diagnostic relevance.

101 citationstop 4%

humanDNA methylation

𝕏 PostBluesky