RNA and protein evidence for haplo‐insufficiency in Diamond–Blackfan anaemia patients with <i>RPS19</i> mutations
Hanna T. Gazda(Boston Children's Hospital), Colin A. Sieff(Harvard University), David Viskochil(University of Utah), Edyta Niewiadomska(Medical University of Warsaw), Jeffrey M. Lipton(Northwell Health), Alan H. Beggs(Boston Children's Hospital), Joerg J Meerpohl(University Medical Center Freiburg), Rong Zhong(Ministry of Ecology and Environment), Evangelia Atsidaftos(Albert Einstein College of Medicine), Anna Płoszyńska(Gdańsk Medical University), W Wiktor-Jędrzejczak(Medical University of Warsaw), Charlotte M. Niemeyer(University of Freiburg), Dagmar Pospı́šilová(Palacký University Olomouc), R Rokicka-Milewska(Medical University of Warsaw), Jan Maciej Zaucha(Gdańsk Medical University), David G. Nathan(Children's Hospital of Philadelphia), Adrianna Vlachos(Johns Hopkins University)
Cited by 106
Related Papers
International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data
|Blood|2022|2.7k
Genotype-Phenotype Correlation in the Long-QT Syndrome
|Circulation|2001|1.8k
GRADE guidelines: 15. Going from evidence to recommendation—determinants of a recommendation's direction and strength
|Journal of Clinical Epidemiology|2013|1.3k
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
|Nature Genetics|2000|1.3k