Publicacións en colaboración con investigadores/as de Hannover Medical School (14)

2024

  1. Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Frontiers in Genetics

2023

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

    Nature

2022

  1. A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

    Communications Biology, Vol. 5, Núm. 1

2021

  1. Breast cancer risk genes - Association analysis in more than 113,000 women

    New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439

  2. Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study

    The Lancet Diabetes and Endocrinology, Vol. 9, Núm. 7, pp. 427-435

2019

  1. Genome-wide association study of germline variants and breast cancer-specific mortality

    British Journal of Cancer, Vol. 120, Núm. 6, pp. 647-657

2017

  1. Association analysis identifies 65 new breast cancer risk loci

    Nature, Vol. 551, Núm. 7678, pp. 92-94

  2. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

2016

  1. Inference of biogeographical ancestry across central regions of Eurasia

    International Journal of Legal Medicine, Vol. 130, Núm. 1, pp. 73-79

2015

  1. Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

    Human Molecular Genetics, Vol. 24, Núm. 5, pp. 1478-1492

  2. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1

    Scientific Reports, Vol. 5

  3. RNA/DNA co-analysis from human skin and contact traces - Results of a sixth collaborative EDNAP exercise

    Forensic Science International: Genetics, Vol. 16, pp. 139-147

2014

  1. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1

2010

  1. Management of phenylketonuria in Europe: Survey results from 19 countries

    Molecular Genetics and Metabolism, Vol. 99, Núm. 2, pp. 109-115