Luis Bermúdez-Guzmán

Publication Activity (10 Years)

Years Active: 2020-2021
Publications (10 Years): 5

Top Topics

Autism Spectrum Disorder

Cerebrospinal Fluid

Top Venues

Scientific reports

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Oscar Brenes, Raffaella Barbieri, Melissa Vásquez, Rebeca Vindas-Smith, Jeffrey Roig, Adarli Romero, Gerardo Del Valle, Luis Bermúdez-Guzmán, Sara Bertelli, Michael Pusch, Fernando Morales
Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients. Cells 10 (2) (2021)
Sonja Neuser, Ilona Krey, Annemarie Schwan, Rami Abou Jamra, Bartolomaeus Tobias, Jan Döring, Steffen Syrbe, Margit Plassmann, Stefan Rohde, Christian Roth, Helga Rehder, Maximilian Radtke, Diana Le Duc, Susanna Schubert, Luis Bermúdez-Guzmán, Alejandro Leal, Katharina Schoner, Bernt Popp
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain. European journal of human genetics : EJHG (2021)
Luis Bermúdez-Guzmán, Reiner A Veitia
Insights into the pathogenicity of missense variants in the forkhead domain of FOX proteins underlying Mendelian disorders. Human genetics 140 (7) (2021)
Luis Bermúdez-Guzmán
Pan-cancer analysis of non-oncogene addiction to DNA repair. Scientific reports 11 (1) (2021)
Luis Bermúdez-Guzmán, Gabriel Jimenez-Huezo, Andrés Arguedas, Alejandro Leal
Mutational survivorship bias: The case of PNKP. PloS one 15 (12) (2020)