Publicacions en col·laboració amb investigadors/es de Rheinisch-Westfälische Technische Hochschule Aachen University (6)

2024

  1. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Clinical Epigenetics, Vol. 16, Núm. 1

  2. Technical Design Report for the LUXE experiment

    European Physical Journal: Special Topics, Vol. 233, Núm. 10, pp. 1709-1974

2023

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

    Nature

2022

  1. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

    Clinical Epigenetics, Vol. 14, Núm. 1

  2. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

    Clinical Epigenetics, Vol. 14, Núm. 1

2018

  1. Noncoding copy-number variations are associated with congenital limb malformation

    Genetics in Medicine, Vol. 20, Núm. 6, pp. 599-607