Publikationen, an denen er mitarbeitet Alejandro Brea Fernández (20)

2022

  1. Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability

    European Journal of Human Genetics, Vol. 30, Núm. 8, pp. 938-945

2019

  1. Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders

    American Journal of Medical Genetics, Part A, Vol. 179, Núm. 2, pp. 290-294

2017

  1. Candidate predisposing germline copy number variants in early onset colorectal cancer patients

    Clinical and Translational Oncology, Vol. 19, Núm. 5, pp. 625-632

2011

  1. An update of in Silico tools for the prediction of pathogenesis in Missense variants

    Current Bioinformatics, Vol. 6, Núm. 2, pp. 185-198

2008

  1. Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa

    British Journal of Ophthalmology, Vol. 92, Núm. 10, pp. 1419-1423