Associated Papers
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Reticular dysgenesis caused by an intronic pathogenic variant in AK2.
Ichikawa S et al.
Cold Spring Harbor Molecular Case Studies, 2020
Recent advances in understanding the pathogenesis and management of reticular dysgenesis.
Hoenig M et al.
British Journal of Haematology, 2018
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.
Hoenig M et al.
Blood, 2017
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.
Lagresle-Peyrou C et al.
Nature Genetics, 2009
Select a paper to view details