Associated Papers
Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition.
Zhang T et al.
Biorxiv : the Preprint Server for Biology, 2025
40161734 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_4
Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia.
Voit RA et al.
Cell Stem Cell, 2025
39532107 (PubMed )
Supplement: NIHMS2031095-supplement-1.pdf
Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications.
Park C et al.
Esmo Open, 2025
39778225 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_2
Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
Lin F et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Recurrent mutations in topoisomerase IIα cause a previously undescribed mutator phenotype in human cancers.
Boot A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
35058360 (PubMed )
Supplement: pnas.2114024119.sd08.xlsx › Dataset.S8
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
Arbiv OA et al.
Clinical Genetics, 2018
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.
Gerrard G et al.
British Journal of Haematology, 2013
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.
Pospisilova D et al.
Blood Cells, Molecules & Diseases, 2012
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I et al.
Human Mutation, 2010
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Quarello P et al.
Haematologica, 2010
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.
Cmejla R et al.
Human Mutation, 2009
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Gazda HT et al.
American Journal of Human Genetics, 2008
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