Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario de Donostia (21)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

2022

  1. Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

  2. Detailed stratified GWAS analysis for severe COVID-19 in four European populations

    Human Molecular Genetics, Vol. 31, Núm. 23, pp. 3945-3966

  3. Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

    Ophthalmic genetics, Vol. 43, Núm. 6, pp. 809-816

  4. Initial study of anaemia profile for primary care centres with automated laboratory algorithms reduces the demand for ferritin, iron, transferrin, vitamin B 12 and folate tests

    Journal of Clinical Pathology, Vol. 75, Núm. 2, pp. 94-98

  5. Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant

    Clinical Genetics

  6. The Prevention of Ischemia-Reperfusion Injury in Elderly Rats after Lower Limb Tourniquet Use

    Antioxidants, Vol. 11, Núm. 10

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Engraftment after autologous hematopoietic stem cell transplantation in patients mobilized with Plerixafor: A retrospective, multicenter study of a large series of patients

    Transfusion and Apheresis Science, Vol. 60, Núm. 3

  3. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  4. Mapping the human genetic architecture of COVID-19

    Nature, Vol. 600, Núm. 7889, pp. 472-477

  5. Specific leukocyte differential and morphological alarms a clue for the detection of SARS-CoV-2 infection

    Journal of Laboratory and Precision Medicine

  6. Streptococcus dysgalactiae subsp. equisimilis from invasive and non-invasive infections in Spain: combining epidemiology, molecular characterization, and genetic diversity

    European Journal of Clinical Microbiology and Infectious Diseases, Vol. 40, Núm. 5, pp. 1013-1021

2020

  1. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

    Journal of Medical Genetics, Vol. 57, Núm. 4, pp. 258-268

2019

  1. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

  2. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

2016

  1. Local verification between the hematological analyzers Sysmex XN-series and XE-5000

    International Journal of Laboratory Hematology, Vol. 38, Núm. 3, pp. 256-264

  2. Luminal B breast cancer subtype displays a dicotomic epigenetic pattern

    SpringerPlus, Vol. 5, Núm. 1

2015

  1. Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients

    Journal of Medical Genetics, Vol. 52, Núm. 10, pp. 647-656