Author

Alejandro Leal

Universidad de Costa RicaORCID 0000-0002-5384-8166Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Frequent Co-Authors

Luis Bermúdez-GuzmániD· 2 shared Andrés ArguedasiD· 1 shared Annemarie Schwan· 1 shared Bernt PoppiD· 1 shared Christian RothiD· 1 shared Diana Le DuciD· 1 shared Gabriel Jiménez-Huezo· 1 shared Helga RehderiD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 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

2 shared papersGenetic & Genomic Medicine

Luis Bermúdez-GuzmánORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA and Phosphatase domain

Sonja Neuser, Ilona Krey, Annemarie Schwan, Rami Abou Jamra, Tobias Bartolomaeus, Jan Henje Döring, Steffen Syrbe, Margit Plassmann, Stefan Rohde, Christian Roth, Helga Rehder, Maximilian Radtke, Diana Le Duc, Susanna Schubert, Luis Bermúdez-Guzmán, , Bernt Popp

The paper describes the prenatal phenotype of PNKP-related primary microcephaly and characterizes the effects of variants using RNA analysis and structural modeling.

European Journal of Human Genetics · Oct 25, 2021Peer-reviewedGenetic & Genomic Medicine

Mutational Survivorship Bias: The case of PNKP

Luis Bermúdez-Guzmán, Gabriel Jiménez-Huezo, Andrés Arguedas, Alejandro Leal

The paper identifies a survivorship bias in mutational analysis of PNKP, showing the phosphatase domain is less mutation-tolerant despite being less associated with disease.

PLoS ONE · Dec 17, 2020Peer-reviewedMolecular Biology