Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia
Michael Landowski(University of Wisconsin–Madison), Hanna T. Gazda(Boston Children's Hospital), Bertil Glader(Stanford University), Eva Atsidaftos(Feinstein Institute for Medical Research), Christopher Buros(Boston Children's Hospital), Edyta Niewiadomska(Medical University of Warsaw), Jeffrey M. Lipton(Feinstein Institute for Medical Research), Marie-Françoise O’Donohue(Centre National de la Recherche Scientifique), Alan H. Beggs(Broad Institute), Pierre‐Emmanuel Gleizes(Centre National de la Recherche Scientifique), Colin A. Sieff(Harvard University), Peter E. Newburger(UMass Memorial Health Care), Nathalie Montel-Lehry(Centre National de la Recherche Scientifique), Michał Matysiak(Children's Memorial Health Institute), Roxanne Ghazvinian, Adrianna Vlachos(Johns Hopkins University)
Cited by 110
Related Papers
Genotype-Phenotype Correlation in the Long-QT Syndrome
|Circulation|2001|1.8k
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
|Nature Genetics|2000|1.3k
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
|PubMed|1989|961
ACTN3 Genotype Is Associated with Human Elite Athletic Performance
|The American Journal of Human Genetics|2003|917
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
|Science Translational Medicine|2017|809