Author

Alfons Macaya

Universitat Autònoma de BarcelonaORCID 0000-0001-7998-4185Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Bru CormandiD· 2 shared Aaron Kleinman· 1 shared Adam AutoniD· 1 shared Adam JacksoniD· 1 shared Adele A. Mitchell· 1 shared Alba Tristán‐NogueroiD· 1 shared Alberto Fernández‐JaéniD· 1 shared Alessandra RenieriiD· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bru CormandORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineNeurobiology of DiseasePeer-reviewedMar 17, 2026

Genotype-Phenotype Correlations and Putative Modifier Genes in SYNGAP1 Encephalopathy

Selena Aranda, Juliana Ribeiro‐Constante, Alba Tristán‐Noguero…·Marina Mitjans

This study investigates genotype-phenotype correlations in SYNGAP1 Encephalopathy, finding that variant location and type, along with modifier genes, influence clinical severity and autistic traits.

2 citationstop 3%

humanstatistical model

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Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedMay 31, 2024

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

German M. Demidov, Steven Laurie, Annalaura Torella…·Stephan Ossowski

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.

22 citationstop 3%

humanwhole-exome sequencing

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GeneticsNeuronPeer-reviewedMay 1, 2018

Common variant burden contributes significantly to the familial aggregation of migraine in 1,589 families

Padhraig Gormley, Mitja Kurki, Marjo Eveliina Hiekkala…·George McMahon

This study shows common genetic variants significantly contribute to migraine family clustering, with higher burden in familial cases compared to population-based cases.

101 citationstop 1%

humanwhole-exome sequencing

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