Whole-genome sequencing of patients with rare diseases in a national health systemErnest Turro, Catherine Williamson, Karyn Mégy et al.|Nature|2020Cited by 581
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndromeCornelis A. Albers, Cédric Ghevaert, Dirk S. Paul et al.|Nature Genetics|2012Cited by 426
New gene functions in megakaryopoiesis and platelet formationChristian Gieger, Gail Davies, Aparna Radhakrishnan et al.|Nature|2011Cited by 424
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndromeCornelis A. Albers, Willem H. Ouwehand, Ana Cvejic et al.|Nature Genetics|2011Cited by 279
Whole-genome sequencing of a sporadic primary immunodeficiency cohortJames Thaventhiran, Felix Boschann, Hana Lango Allen et al.|Nature|2020Cited by 242