Author

Alberto Barros

Universidade do PortoORCID 0000-0002-8700-3698Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:gene regulatory network inference· 1 Assay:scRNA-seq· 1

Frequent Co-Authors

Alexandra Manuel LopesiD· 2 shared Antoni Riera‐EscamillaiD· 2 shared Corinna FriedrichiD· 2 shared Csilla Gabriella KrausziD· 2 shared Donald F. ConradiD· 2 shared Douglas T. CarrelliD· 2 shared Emily S. JungheimiD· 2 shared Ewa Rajpert‐De MeytsiD· 2 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexandra Manuel LopesORCID

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2 papers

Recent·Most cited

Diverse Monogenic Subforms of Human Spermatogenic Failure

Liina Nagirnaja, Alexandra Manuel Lopes, Wu‐Lin Charng, Brian Miller, Rytis Stakaitis, Ieva Golubickaitė, Alexandra M. Stendahl, Tianpengcheng Luan, Corinna Friedrich, Eisa Mahyari, Eloise Fadial, Laura Kasak, Katinka A. Vigh‐Conrad, Manon S. Oud, Miguel Joao Xavier, , Donald F. Conrad

This study identifies genetic subforms of non-obstructive azoospermia using exome sequencing and single-cell RNA sequencing, revealing molecular groups of genes involved in spermatogenesis.

Nature Communications · Dec 26, 2022Peer-reviewedGenetic & Genomic Medicine

A de novo paradigm for male infertility

Manon S. Oud, RM Smits, H E Smith, Francesco Kumara Mastrorosa, Giles S. Holt, Brendan J. Houston, Petra F. de Vries, B. Alobaidi, Lois E. Batty, H. Ismail, J. Greenwood, Harsh J. Sheth, Aneta Mikulášová, Galuh Astuti, Christian Gilissen, , Joris Andre Veltman

The paper identifies de novo mutations as a significant genetic cause of male infertility, finding several candidate genes and an enrichment of loss-of-function and missense mutations in intolerant genes.

Nature Communications · Jan 10, 2022Peer-reviewedGenetics