Associated Papers
Reduced-intensity conditioning-based hematopoietic cell transplantation for dyskeratosis congenita: Single-center experience and literature review.
Bhoopalan SV et al.
Pediatric Blood & Cancer, 2021
Impact of clinical targeted sequencing on endocrine responsiveness in estrogen receptor-positive, HER2-negative metastatic breast cancer.
Hagio K et al.
Scientific Reports, 2021
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.
Dhindsa RS et al.
Communications Biology, 2021
33758299 (PubMed )
Supplement: 42003_2021_1910_MOESM4_ESM.xlsx › ExWAS_p_0.05
Genetic landscape of adult Langerhans cell histiocytosis with lung involvement.
Jouenne F et al.
The European Respiratory Journal, 2020
Somatic FGFR3 Mutations Distinguish a Subgroup of Muscle-Invasive Bladder Cancers with Response to Neoadjuvant Chemotherapy.
Yang Z et al.
Ebiomedicine, 2018
29941343 (PubMed )
Supplement: mmc1.pdf
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML.
Przychodzen B et al.
Oncotarget, 2018
29416752 (PubMed )
Supplement: oncotarget-09-2050-s001.pdf
ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.
Toy W et al.
Nature Genetics, 2013
24185512 (PubMed )
Supplement: NIHMS531250-supplement-2.xlsx › All_samples_N_36_
Many disease-associated variants of hTERT retain high telomerase enzymatic activity.
Zaug AJ et al.
Nucleic Acids Research, 2013
Short telomeres resulting from heritable mutations in the telomerase reverse transcriptase gene predispose for a variety of malignancies.
Hills M et al.
Annals of the New York Academy of Sciences, 2009
Genetic and environmental factors influencing human diseases with telomere dysfunction.
Ly H
International Journal of Clinical and Experimental Medicine, 2009
Telomere dysfunction in human diseases: the long and short of it!
Carroll KA et al.
International Journal of Clinical and Experimental Pathology, 2009
Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.
Calado RT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
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