Publikationen in Zusammenarbeit mit Forschern von Leiden University Medical Center (30)

2024

  1. European pollen reanalysis, 1980-2022, for alder, birch, and olive

    Scientific data, Vol. 11, Núm. 1, pp. 1082

  2. Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

    Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338

  3. The role of automatic pollen and fungal spore monitoring across major end-user domains

    Aerobiologia, Vol. 40, Núm. 1, pp. 57-75

2023

  1. Author Correction: Palaeogenomics of Upper Palaeolithic to Neolithic European hunter-gatherers (Nature, (2023), 615, 7950, (117-126), 10.1038/s41586-023-05726-0)

    Nature

  2. Palaeogenomics of Upper Palaeolithic to Neolithic European hunter-gatherers

    Nature, Vol. 615, Núm. 7950, pp. 117-126

2022

  1. Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants

    Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101

  2. Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants

    Journal of Pathology, Vol. 256, Núm. 3, pp. 321-334

2021

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  2. Recommendations for the introduction of metagenomic high-throughput sequencing in clinical virology, part I: Wet lab procedure

    Journal of Clinical Virology, Vol. 134

  3. Recommendations for the introduction of metagenomic next-generation sequencing in clinical virology, part II: bioinformatic analysis and reporting

    Journal of Clinical Virology, Vol. 138

  4. Sin título en SCOPUS

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 118, Núm. 12

2020

  1. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Nature Genetics, Vol. 52, Núm. 1, pp. 56-73

2019

  1. Epithelial dysregulation in obese severe asthmatics with gastro-oesophageal reflux

    European Respiratory Journal

  2. Parabrachial Interleukin-6 Reduces Body Weight and Food Intake and Increases Thermogenesis to Regulate Energy Metabolism

    Cell Reports, Vol. 26, Núm. 11, pp. 3011-3026.e5

2018

  1. Bone morphogenetic protein 9 as a key regulator of liver progenitor cells in DDC-induced cholestatic liver injury

    Liver International, Vol. 38, Núm. 9, pp. 1664-1675

2017

  1. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

    Nature Genetics, Vol. 49, Núm. 5, pp. 680-691

2014

  1. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

    Breast Cancer Research, Vol. 16

  2. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    PLoS Genetics, Vol. 10, Núm. 4

2013

  1. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

    PLoS Genetics, Vol. 9, Núm. 3

  2. Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles

    PLoS ONE, Vol. 8, Núm. 2