Publikationen in Zusammenarbeit mit Forschern von University of Birmingham (3)

2024

  1. ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies

    Blood, Vol. 144, Núm. 11, pp. 1193-1205

2018

  1. Molecular genetics of the transcription factor GLIS3 identifies its dual function in beta cells and neurons

    Genomics, Vol. 110, Núm. 2, pp. 98-111

2016

  1. Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

    Blood, Vol. 128, Núm. 9, pp. 1282-1289