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List of works by Sharon A. Savage

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Osteosarcoma incidence and survival rates from 1973 to 2004: data from the Surveillance, Epidemiology, and End Results Program

scientific article
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma

scientific article
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013
Detectable clonal mosaicism and its relationship to aging and cancer

journal article published in 2012
The association of telomere length and cancer: a meta-analysis

scientific article
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

scientific article
Cancer in dyskeratosis congenita

scientific article
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

scientific article
International osteosarcoma incidence patterns in children and adolescents, middle ages and elderly persons

scientific article
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

scientific article
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells

scientific article
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

scientific article
Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.

scientific article
Genome-wide association study identifies two susceptibility loci for osteosarcoma

scientific article (publication date: July 2013)
Using epidemiology and genomics to understand osteosarcoma etiology

scientific article
The association between leukocyte telomere length and cigarette smoking, dietary and physical variables, and risk of prostate cancer

scientific article published on June 2009
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

scientific article published on 18 January 2013
The genetics and clinical manifestations of telomere biology disorders

scientific article published on December 2010
Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

scientific article (publication date: March 2012)
Dyskeratosis congenita

Telomere length in peripheral leukocyte DNA and gastric cancer risk

scientific article
A role for heterochromatin protein 1γ at human telomeres

scientific article
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome

scientific article
Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita

scientific article published on 12 April 2010
Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes

scientific article
Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types

journal article published in 2015
Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.

scientific article published on 6 August 2016
Toward a drug development path that targets metastatic progression in osteosarcoma.

scientific article
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

scientific article
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.

scientific article
The association of telomere length and genetic variation in telomere biology genes

scientific article
Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33

journal article published in 2014
Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.

scientific article
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders

scientific article published on June 2013
Leukocyte telomere length in a population-based case-control study of ovarian cancer: a pilot study

scientific article
Genome-wide association study of relative telomere length

scientific article
Height at diagnosis and birth-weight as risk factors for osteosarcoma

scientific article
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

scientific article
Epidemiologic evidence for a role of telomere dysfunction in cancer etiology

scientific article
Genetic variation in five genes important in telomere biology and risk for breast cancer

scientific article
H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.

scientific article published on 23 May 2013
A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma

scientific article
Characterization of large structural genetic mosaicism in human autosome

journal article published in 2015
Analysis of genes critical for growth regulation identifies Insulin-like Growth Factor 2 Receptor variations with possible functional significance as risk factors for osteosarcoma

scientific article published on August 2007
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder

scientific article
A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma

scientific article
Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita

scientific article published on 08 June 2013
The role of telomere biology in bone marrow failure and other disorders

scientific article published on 19 November 2007
Variants of the IL8 and IL8RB genes and risk for gastric cardia adenocarcinoma and esophageal squamous cell carcinoma

article
Association between donor leukocyte telomere length and survival after unrelated allogeneic hematopoietic cell transplantation for severe aplastic anemia

scientific article

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