Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients
Hanna T. Gazda(Boston Children's Hospital), Alan H. Beggs(Boston Children's Hospital), Valérie Choesmel(Centre National de la Recherche Scientifique), Adrianna Vlachos(Johns Hopkins University), Bertil Glader(Stanford University), Catherine Hasman(Boston Children's Hospital), Eva Atsidaftos(Feinstein Institute for Medical Research), Edyta Niewiadomska(Medical University of Warsaw), Jeffrey M. Lipton(Northwell Health), Sarah E. Ball(St George's, University of London), Joerg J Meerpohl(University Medical Center Freiburg), Pierre‐Emmanuel Gleizes(Centre National de la Recherche Scientifique), Colin A. Sieff(Harvard University), Peter E. Newburger(UMass Memorial Health Care), Michał Matysiak(Children's Memorial Health Institute), Mee Rie Sheen(Harvard University), Natasha Darras(Boston Children's Hospital), Charlotte M. Niemeyer(University of Freiburg), Marie-Françoise O’Donohue(Centre National de la Recherche Scientifique), Hal E. Schneider(Boston Children's Hospital), Jan Maciej Zaucha(Gdańsk Medical University)
Cited by 417
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