Publicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (46)

2024

  1. Clinical and Genetic Analysis of Patients With TK2 Deficiency

    Neurology: Genetics, Vol. 10, Núm. 2

  2. Design, synthesis and validation of a new Crimped Head-Piece for DNA-Encoded libraries generation

    Bioorganic and Medicinal Chemistry, Vol. 99

  3. Prevalence and population genetic analyses of parasites in invasive Vespa velutina and native Hymenoptera

    Journal of Invertebrate Pathology, Vol. 207

2023

  1. Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing

    Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113

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

2021

  1. CSVS, a crowdsourcing database of the Spanish population genetic variability

    Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137

  2. Exploring the biological role of postzygotic and germinal de novo mutations in ASD

    Scientific Reports, Vol. 11, Núm. 1

  3. Normalization of DNA encoded library affinity selection results driven by high throughput sequencing and HPLC purification

    Bioorganic and Medicinal Chemistry, Vol. 40

2020

  1. A compilation of tri-allelic SNPs from 1000 Genomes and use of the most polymorphic loci for a large-scale human identification panel

    Forensic Science International: Genetics, Vol. 46

  2. Broadening the Applicability of a Custom Multi-Platform Panel of Microhaplotypes: Bio-Geographical Ancestry Inference and Expanded Reference Data

    Frontiers in Genetics, Vol. 11

  3. Building a custom large-scale panel of novel microhaplotypes for forensic identification using MiSeq and Ion S5 massively parallel sequencing systems

    Forensic Science International: Genetics, Vol. 45

  4. Longitudinal analysis on parasite diversity in honeybee colonies: new taxa, high frequency of mixed infections and seasonal patterns of variation

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. Early colorectal cancers provide new evidence for a lynch syndrome-to-CMMRD phenotypic continuum

    Cancers, Vol. 11, Núm. 8

2018

  1. Identification of genes carrying rare variants of moderate to large effect in schizophrenia: A replication study

    Schizophrenia Research

  2. Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples

    European Archives of Psychiatry and Clinical Neuroscience, Vol. 268, Núm. 6, pp. 585-592

  3. Whole exome sequencing identifies new host genomic susceptibility factors in empyema caused by streptococcus pneumoniae in children: A pilot study

    Genes, Vol. 9, Núm. 5

  4. tagFinder: A Novel Tag Analysis Methodology That Enables Detection of Molecules from DNA-Encoded Chemical Libraries

    SLAS Discovery, Vol. 23, Núm. 5, pp. 397-404

2017

  1. Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection

    International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219

  2. Whole Exome Sequencing reveals new candidate genes in host genomic susceptibility to Respiratory Syncytial Virus Disease

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. D5S2500 is an ambiguously characterized STR: Identification and description of forensic microsatellites in the genomics age.

    Forensic Science International: Genetics, Vol. 23, pp. 19-24