Sharon A. Savage
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American pediatric hematologist/oncologist
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Sharon A. Savage's Degrees
- Bachelors Biology University of Pennsylvania
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Why Is Sharon A. Savage Influential?
(Suggest an Edit or Addition)According to Wikipedia, Sharon A. Savage is an American pediatric hematologist/oncologist. She is the clinical director of the National Cancer Institute's Division of Cancer Epidemiology and Genetics. Life Savage completed a B.S. in biochemistry at Worcester Polytechnic Institute. Savage earned her M.D. from the University of Vermont College of Medicine, completed residency training in pediatrics at Children’s National Medical Center, in Washington DC, and a fellowship in pediatric hematology/oncology at the National Cancer Institute Pediatric Oncology Branch and Johns Hopkins University. She is board-certified in both pediatrics and pediatric hematology-oncology.
Sharon A. Savage's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Osteosarcoma incidence and survival rates from 1973 to 2004 (2009) (1756)
- Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer (2013) (534)
- A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. (2009) (532)
- International osteosarcoma incidence patterns in children and adolescents, middle ages and elderly persons (2009) (527)
- Detectable clonal mosaicism and its relationship to aging and cancer (2012) (512)
- Cancer in dyskeratosis congenita. (2009) (422)
- The Association of Telomere Length and Cancer: a Meta-analysis (2011) (414)
- TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. (2008) (396)
- Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. (2007) (326)
- Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li‐Fraumeni syndrome cohort (2016) (320)
- Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome (2017) (302)
- Germline and somatic genetics of osteosarcoma — connecting aetiology, biology and therapy (2017) (301)
- Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study (2010) (293)
- Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma (2014) (275)
- Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. (2011) (249)
- The association between leukocyte telomere length and cigarette smoking, dietary and physical variables, and risk of prostate cancer (2009) (223)
- Using Epidemiology and Genomics to Understand Osteosarcoma Etiology (2011) (215)
- The genetics and clinical manifestations of telomere biology disorders (2010) (212)
- Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita (2013) (211)
- Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up (2017) (202)
- Telomere length is associated with disease severity and declines with age in dyskeratosis congenita (2012) (190)
- Genome-wide Association Study Identifies Two Susceptibility Loci for Osteosarcoma (2013) (181)
- Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders (2013) (144)
- Telomere shortening and loss of self-renewal in dyskeratosis congenita iPS cells (2011) (141)
- Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis (2017) (139)
- Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types. (2015) (133)
- Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. (2006) (126)
- Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes (2010) (123)
- Toward a Drug Development Path That Targets Metastatic Progression in Osteosarcoma (2014) (123)
- Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita (2011) (123)
- Telomere Length in Peripheral Leukocyte DNA and Gastric Cancer Risk (2009) (119)
- Tobacco Use: A Pediatric Disease (2009) (117)
- A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome (2013) (117)
- Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1 (2014) (112)
- H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation. (2013) (109)
- The association of telomere length and genetic variation in telomere biology genes a (2010) (109)
- Determination of atrazine residues in water and soil by enzyme immunoassay (1988) (109)
- Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita. (2013) (106)
- Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease. (2002) (106)
- Variants of the IL8 and IL8RB genes and risk for gastric cardia adenocarcinoma and esophageal squamous cell carcinoma. (2004) (102)
- Genome-Wide Association Study of Relative Telomere Length (2011) (101)
- Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma. (2020) (101)
- Height at diagnosis and birth-weight as risk factors for osteosarcoma (2011) (100)
- Unraveling the pathogenesis of Hoyeraal–Hreidarsson syndrome, a complex telomere biology disorder (2015) (98)
- Beginning at the ends: telomeres and human disease (2018) (97)
- Germline TP53 variants and susceptibility to osteosarcoma. (2015) (95)
- A role for heterochromatin protein 1γ at human telomeres. (2011) (94)
- An update on the biology and management of dyskeratosis congenita and related telomere biology disorders (2019) (92)
- Characterization of large structural genetic mosaicism in human autosomes. (2015) (91)
- Epidemiologic evidence for a role of telomere dysfunction in cancer etiology. (2012) (89)
- Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33. (2014) (88)
- Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. (2012) (87)
- A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma. (2015) (85)
- Response to androgen therapy in patients with dyskeratosis congenita (2014) (85)
- The genomics of inherited bone marrow failure: from mechanism to the clinic (2017) (83)
- Analysis of Genes Critical for Growth Regulation Identifies Insulin-like Growth Factor 2 Receptor Variations with Possible Functional Significance as Risk Factors for Osteosarcoma (2007) (80)
- Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders (2017) (80)
- Genetic variation in five genes important in telomere biology and risk for breast cancer (2007) (80)
- Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. (2014) (79)
- The role of telomere biology in bone marrow failure and other disorders (2008) (72)
- Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. (2010) (72)
- Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome (2016) (72)
- Association between donor leukocyte telomere length and survival after unrelated allogeneic hematopoietic cell transplantation for severe aplastic anemia. (2015) (71)
- Polymorphisms in interleukin -2, -6, and -10 are not associated with gastric cardia or esophageal cancer in a high-risk chinese population. (2004) (70)
- Telomeres and the natural lifespan limit in humans (2017) (70)
- A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma (2011) (70)
- Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation (2017) (69)
- Common genetic variants in the 9p21 region and their associations with multiple tumours (2013) (67)
- Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: A search for human papillomavirus (2013) (66)
- Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis (2018) (65)
- Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice. (2017) (64)
- Leukocyte telomere length in a population-based case–control study of ovarian cancer: a pilot study (2009) (64)
- Erythrocyte adenosine deaminase: diagnostic value for Diamond‐Blackfan anaemia (2013) (63)
- Lifetime Pesticide Use and Telomere Shortening among Male Pesticide Applicators in the Agricultural Health Study (2013) (63)
- LINE-1 methylation is inherited in familial testicular cancer kindreds (2010) (62)
- Telomere length in inherited bone marrow failure syndromes (2014) (62)
- Dyskeratosis congenita: The first NIH clinical research workshop (2009) (61)
- Interleukin-8 Polymorphisms Are Not Associated with Gastric Cancer Risk in a Polish Population (2006) (60)
- Human telomeres and telomere biology disorders. (2014) (57)
- Genomic characterization of the inherited bone marrow failure syndromes. (2013) (57)
- Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review (2011) (57)
- Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants (2020) (55)
- Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraint (2005) (53)
- Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia. (2017) (51)
- Telomere Length and the Risk of Cutaneous Malignant Melanoma in Melanoma-Prone Families with and without CDKN2A Mutations (2013) (50)
- Germ‐line genetic variation of TP53 in osteosarcoma (2007) (49)
- Effect of pre-analytic variables on the reproducibility of qPCR relative telomere length measurement (2017) (49)
- Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia. (2006) (47)
- Pesticide Use and Relative Leukocyte Telomere Length in the Agricultural Health Study (2015) (44)
- Telomere length and variation in telomere biology genes in individuals with osteosarcoma. (2011) (42)
- Comparison of Chromosome Breakage in Non-Mosaic and Mosaic Patients with Fanconi Anemia, Relatives, and Patients with Other Inherited Bone Marrow Failure Syndromes (2014) (41)
- Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT. (2017) (41)
- Genome-Wide Association Study Identifies Variants in Casein Kinase II (CSNK2A2) to be Associated With Leukocyte Telomere Length in a Punjabi Sikh Diabetic Cohort (2014) (41)
- Telomere biology in hematopoiesis and stem cell transplantation. (2011) (40)
- Higher‐than‐expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history (2017) (39)
- Germline mutations in Protection of Telomeres 1 in two families with Hodgkin lymphoma (2018) (39)
- The integral membrane protein, ponticulin, acts as a monomer in nucleating actin assembly (1993) (39)
- Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort (2017) (39)
- Promoter methylation of candidate genes associated with familial testicular cancer. (2012) (38)
- Parent decision‐making around the genetic testing of children for germline TP53 mutations (2015) (38)
- Contribution of the Regulatory Gene lemA to Field Fitness of Pseudomonas syringae pv. syringae (1997) (38)
- Current state of pediatric sarcoma biology and opportunities for future discovery: A report from the sarcoma translational research workshop. (2016) (36)
- Nucleotide diversity and population differentiation of the Melanocortin 1 Receptor gene, MC1R (2008) (36)
- Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies (2019) (36)
- Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders. (2015) (36)
- Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma. (2017) (35)
- Optimization of therapy for severe aplastic anemia based on clinical, biologic, and treatment response parameters: conclusions of an international working group on severe aplastic anemia convened by the Blood and Marrow Transplant Clinical Trials Network, March 2010. (2011) (35)
- Neonatal manifestations of inherited bone marrow failure syndromes. (2016) (35)
- The shelterin complex and hematopoiesis. (2016) (35)
- Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia. (2018) (35)
- Parathyroid tumor development involves deregulation of homeobox genes. (2008) (35)
- Determination of atrazine residues in food by enzyme immunoassay (1989) (34)
- Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders (2017) (33)
- Understanding the evolving phenotype of vascular complications in telomere biology disorders (2018) (32)
- Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives (2017) (32)
- Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndrome (2016) (32)
- The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita. (2012) (31)
- The Biomarkers of Exposure and Effect in Agriculture (BEEA) Study: Rationale, Design, Methods, and Participant Characteristics (2015) (29)
- Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set (2021) (28)
- The long and short of telomeres and cancer association studies. (2013) (28)
- Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders (2014) (28)
- XAF1 as a modifier of p53 function and cancer susceptibility (2020) (27)
- Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. (2016) (27)
- Immune status of patients with inherited bone marrow failure syndromes (2015) (26)
- Case-parent analysis of variation in pubertal hormone genes and pediatric osteosarcoma: a Children's Oncology Group (COG) study. (2012) (26)
- The relationship between DNA methylation and telomere length in dyskeratosis congenita (2012) (26)
- Inhibition of acetyl cholinesterase by solanaceous glycoalkaloids and alkaloids (1987) (25)
- Genome‐wide association study identifies the GLDC/IL33 locus associated with survival of osteosarcoma patients (2018) (25)
- Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations (2016) (25)
- Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita. (2018) (25)
- Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology? (2012) (25)
- Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hem (2017) (25)
- Novel FANCI mutations in Fanconi anemia with VACTERL association (2015) (24)
- Telomere length and risk of glioma. (2013) (24)
- Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome (2016) (24)
- Connecting complex disorders through biology (2012) (24)
- Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types (2015) (24)
- RTEL1 influences the abundance and localization of TERRA RNA (2020) (24)
- Effect of Recipient Age and Stem Cell Source on the Association between Donor Telomere Length and Survival after Allogeneic Unrelated Hematopoietic Cell Transplantation for Severe Aplastic Anemia. (2016) (24)
- Research participant interest in primary, secondary and incidental genomic findings (2016) (23)
- Re‐equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction (2020) (22)
- Structure and function of the human Gly1619Arg polymorphism of M6P/IGF2R domain 11 implicated in IGF2 dependent growth (2008) (22)
- Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes (2013) (22)
- Genetic variation at chromosome 8q24 in osteosarcoma cases and controls. (2010) (22)
- Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population (2015) (21)
- Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence (2019) (21)
- The international diffuse intrinsic pontine glioma registry: an infrastructure to accelerate collaborative research for an orphan disease (2017) (21)
- The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita (2016) (20)
- Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls (2018) (20)
- Telomeres in molecular epidemiology studies. (2014) (20)
- Determination of methyl 2-benzimidazolecarbamate in fruit juices by immunoassay (1990) (18)
- On the Interplay of Telomeres, Nevi and the Risk of Melanoma (2012) (18)
- Patterns of Bone Sarcomas as a Second Malignancy in Relation to Radiotherapy in Adulthood and Histologic Type (2012) (18)
- The TP53 Database: transition from the International Agency for Research on Cancer to the US National Cancer Institute (2022) (17)
- Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes. (2015) (17)
- Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries (2022) (17)
- Telomere Length Calibration from qPCR Measurement: Limitations of Current Method (2018) (17)
- Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance (2020) (17)
- Donor telomere length and causes of death after unrelated hematopoietic cell transplantation in patients with marrow failure. (2018) (17)
- Mouse Homolog of the Human TP53 R337H Mutation Reveals Its Role in Tumorigenesis. (2018) (17)
- Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort. (2017) (16)
- Relationship between plasma 25-hydroxyvitamin D and leucocyte telomere length by sex and race in a US study‡ (2016) (16)
- Penetrance of different cancer types in families with Li-Fraumeni syndrome: a validation study using multi-center cohorts. (2019) (16)
- Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study. (2021) (16)
- Risk of renal cell carcinoma in relation to blood telomere length in a population-based case–control study (2011) (16)
- Beyond the triad: Inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenita (2017) (16)
- Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report (2018) (15)
- Estimating TP53 Mutation Carrier Probability in Families with Li–Fraumeni Syndrome Using LFSPRO (2017) (15)
- Disease Progression and Clinical Outcomes in Telomere Biology Disorders. (2021) (15)
- Catheter-directed thrombolysis in a child with acute lymphoblastic leukemia and extensive deep vein thrombosis. (2000) (15)
- Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes. (2014) (14)
- Genetic association studies in cancer: Good, bad or no longer ugly? (2006) (14)
- Bone cancer: Is the osteosarcoma genome targetable? (2017) (14)
- Variants of the IL 8 and IL 8 RB Genes and Risk for Gastric Cardia Adenocarcinoma and Esophageal Squamous Cell Carcinoma (2004) (14)
- Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita (2011) (13)
- Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia. (2020) (13)
- Genetic association studies: where are we now? (2006) (12)
- Environmental Chemicals and Childhood Cancer (2011) (12)
- Alternative splicing is a developmental switch for hTERT expression. (2021) (12)
- Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines (2020) (12)
- The built environment (2018) (12)
- CNS manifestations in patients with telomere biology disorders (2019) (12)
- Genotype-phenotype association and variant characterization in Diamond Blackfan anemia caused by pathogenic variants in RPL35A (2020) (11)
- No Association between Donor Telomere Length and Outcomes after Allogeneic Unrelated Hematopoietic Cell Transplant in Patients with Acute Leukemia (2017) (11)
- A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma. (2011) (11)
- Chromosomal Aberrations and Survival after Unrelated Donor Hematopoietic Stem Cell Transplant in Patients with Fanconi Anemia. (2018) (10)
- Worldwide genetic structure in 37 genes important in telomere biology (2011) (10)
- Hereditary and environmental epidemiology of sarcomas (2012) (10)
- Telomere stability genes are not mutated in osteosarcoma cell lines. (2005) (10)
- Pediatric leukemia susceptibility disorders: manifestations and management. (2017) (10)
- The evidence for prostate cancer risk loci at 8q24 grows stronger. (2007) (10)
- Bone Mineral Density in Patients with Inherited Bone Marrow Failure Syndromes (2017) (9)
- Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes (2020) (9)
- Cancer in the National Cancer Institute Inherited Bone Marrow Failure Syndrome Cohort after 15 Years of Follow-up (2016) (9)
- Reproductive factors associated with breast cancer risk in Li-Fraumeni syndrome. (2019) (9)
- Family Health Leaders: Lessons on Living with Li-Fraumeni Syndrome across Generations. (2019) (8)
- Relative Telomere Length before Hematopoietic Cell Transplantation and Outcome after Unrelated Donor Hematopoietic Cell Transplantation for Acute Leukemia. (2017) (8)
- Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder (2019) (8)
- Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia (2020) (8)
- Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. (2020) (8)
- Using germ-line genetic variation to investigate and treat cancer. (2004) (8)
- Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants (2018) (8)
- Fundamental immune–oncogenicity trade-offs define driver mutation fitness (2022) (7)
- Pre‐transplant short telomeres are associated with high mortality risk after unrelated donor haematopoietic cell transplant for severe aplastic anaemia (2019) (7)
- Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure. (2017) (7)
- Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes. (2022) (7)
- Alternative splicing is a developmental switch for hTERT expression (2020) (6)
- Telomere length and epigenetic clocks as markers of cellular aging: a comparative study (2022) (6)
- Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes (2018) (6)
- Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study. (2021) (6)
- Regulation of cell spreading during differentiation in the muscarinic M5 receptor tumor‐suppressor model (1997) (6)
- RPS29 is Mutated in a Multi-Case Diamond Blackfan Anemia Family (2012) (6)
- HG-14CLINICAL, RADIOGRAPHIC, AND HISTOLOGIC CHARACTERISTICS OF LONG-TERM SURVIVORS OF DIFFUSE INTRINSIC PONTINE GLIOMA: A REPORT FROM THE INTERNATIONAL DIPG REGISTRY (2015) (5)
- Aplastic Anemia & MDS International Foundation (AA&MDSIF): bone marrow failure disease scientific symposium 2012. (2011) (5)
- DNA-methylation-based telomere length estimator: comparisons with measurements from flow FISH and qPCR (2021) (5)
- Association between coffee drinking and telomere length in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (2020) (4)
- Risk of Second Primary Bone and Soft-Tissue Sarcomas Among Young Adulthood Cancer Survivors. (2019) (4)
- Response to Androgen Therapy and Side Effects in Patients with Dyskeratosis Congenita. (2012) (4)
- Abstract 5574: High prevalence of germline TP53 mutations in young osteosarcoma cases (2015) (4)
- Cancer Epidemiology in the National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort: First Report (2008) (4)
- Telomere Length and the Risk of Cutaneous Malignant Melanoma in Melanoma-Prone Families with and without CDKN 2 A Mutations (2013) (4)
- Cancer genetic association studies in the genome-wide age. (2008) (4)
- 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes (2019) (3)
- The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature (2021) (3)
- Correlation of Telomere Length in Blood, Buccal Cells, and Fibroblasts From Patients with Inherited Bone Marrow Failure Syndromes. (2009) (3)
- Pilot Study Assessing Tolerability and Metabolic Effects of Metformin in Patients With Li-Fraumeni Syndrome. (2020) (3)
- 0127 Pesticide use and relative telomere length in the Agricultural Health Study (2014) (3)
- Population frequency of Fanconi pathway gene variants and their association with survival after hematopoietic cell transplant for severe aplastic anemia. (2020) (3)
- A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome (2020) (3)
- Donor Telomere Length and Outcomes after Allogeneic Unrelated Hematopoietic Cell Transplant in Patients with Acute Leukemia (2016) (3)
- Baseline cancer screening findings from the NCI Li-Fraumeni syndrome study. (2016) (3)
- Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features (2022) (3)
- Differential diagnosis of bone marrow failure syndromes guided by machine learning. (2022) (3)
- Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions (2018) (3)
- Structure and function of the h uman Gly 1619 Arg polymorphism of M 6 P / IGF 2 R domain 11 implicated in IGF 2 dependent growth (2009) (2)
- Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li–Fraumeni syndrome (2021) (2)
- Abstract LB-333: A case-parent-triad approach in assessing risk of osteosarcoma associated with genetic variation in insulin-like growth factor 1/growth hormone axis genes: a Children's Oncology Group (COG) study (2012) (2)
- Abstract 29: Design of a phase I chemoprevention study of metformin and Li-Fraumeni syndrome (LFS) (2014) (2)
- Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis (2022) (2)
- Association between zidovudine-containing antiretroviral therapy exposure in utero and leukocyte telomere length at birth. (2019) (2)
- Gynaecological and reproductive health of women with telomere biology disorders (2021) (2)
- Genomic clues to ethnic differences in ALL. (2014) (2)
- Secondary supratentorial primitive neuroectodermal tumor following treatment of childhood osteosarcoma (2009) (2)
- Faculty of 1000 evaluation for Short telomere length and ischemic heart disease: observational and genetic studies in 290 022 individuals. (2018) (2)
- Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome. (2021) (2)
- Disease associated perturbations of H/ACA small RNA activity reveal a functional role for specialized RNA modifications in hematopoietic stem cell differentiation (2013) (1)
- Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita (2021) (1)
- Abstract 4654: Telomere length as a biomarker of cancer risk: Review and meta-analysis (2011) (1)
- De Novo RPS20 Mutations in Diamond Blackfan Anemia (2014) (1)
- Faculty of 1000 evaluation for Stressful life events and leucocyte telomere length: Do lifestyle factors, somatic and mental health, or low grade inflammation mediate this relationship? Results from a cohort of Danish men born in 1953. (2018) (1)
- Telomere biology disorders gain a family member. (2022) (1)
- Principles of Genetics and Genomics (2013) (1)
- Author Correction: Fundamental immune–oncogenicity trade-offs define driver mutation fitness (2022) (1)
- TINF2 , a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita. (2007) (1)
- Spectrum and incidence of skin cancer among individuals with Li-Fraumeni syndrome. (2022) (1)
- Abstract LB-307: Translational and mechanistic implications of osteosarcoma genomics: A TARGET report (2020) (1)
- Fertility and Pregnancy Outcomes in Females with Dyskeratosis Congenita (2014) (1)
- Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic (2019) (1)
- Clonal Alterations and Survival after Unrelated Donor Allogeneic Hematopoietic Stem Cell Transplant in Patients with Fanconi Anemia (2018) (1)
- Inflated expectations: Rare-variant association analysis using public controls (2023) (1)
- Dyskeratosis congenita and telomere biology disorders. (2022) (1)
- Novel and Known Ribosomal Causes of Diamond-Blackfan Anemia Identified through Comprehensive Genomic Characterization (2016) (1)
- Genomic-Based Machine Learning Towards Prediction of the Etiology of Bone Marrow Failure Syndromes (2021) (1)
- Evaluating The Utility Of Telomere Length Measurement By Qpcr As a Diagnostic Test For Dyskeratosis Congenita (2013) (1)
- Corrigendum re "Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma" [Eur Urol 2017;72:747-54]. (2018) (1)
- Large Genomic Deletions in Shwachman-Diamond Syndrome (2018) (1)
- Prognostic Significance of Pulmonary Function Test Abnormalities in Patients with Dyskeratosis Congenita (2016) (1)
- Clinical outcomes in transient epileptic amnesia: A 10‐year follow‐up cohort study of 47 cases (2022) (1)
- Bone marrow skeletal stem / progenitor cell defects in patients with dyskeratosis congenita and telomere biology disorders (2014) (1)
- Very Short Telomeres Are Characteristic of Dyskeratosis Congenita and Not Other Inherited Bone Marrow Failure Syndromes (2008) (1)
- identifies patients with dyskeratosis congenita Very short telomere length by flow fluorescence in situ hybridization (2011) (1)
- Effect of breastfeeding on the risk of breast cancer in Li-Fraumeni syndrome. (2018) (1)
- Corrigendum: 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes (2019) (1)
- Faculty of 1000 evaluation for Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148. (2018) (1)
- Abstract 2532: Pediatric osteosarcoma patients are taller than average from birth to age twelve: a report from the Children's Oncology Group. (2013) (1)
- Faculty of 1000 evaluation for Telomeres, aging and exercise: guilty by association? (2018) (1)
- Telomere Length Measurement by Flow-FISH Distinguishes Dyskeratosis Congenita from Other Bone Marrow Failure Syndromes. (2006) (1)
- Faculty Opinions recommendation of Telomere and telomerase stability in human diseases and cancer. (2018) (0)
- Abstract 4871: Whole-exome sequencing identifies a high frequency of germline deleterious variants in cancer predisposition genes in individuals with osteosarcoma (2017) (0)
- Abstract 1668: Understanding cancer associated SNPs in the TERT-CLPTM1L locus through population genetics (2012) (0)
- Faculty of 1000 evaluation for Mutations, cancer and the telomere length paradox. (2018) (0)
- Whole Exome Sequencing in Severe Aplastic Anemia Identifies Unrecognized Inherited Subset with Inferior Survival after Hematopoietic Cell Transplant (2021) (0)
- Studies of Immune Function In the Inherited Bone Marrow Failure Syndromes. (2010) (0)
- Abstract 2406: A general probabilistic algorithm to predict de novo mutations in familial diseases as demonstrated in Li-Fraumeni Syndrome (2019) (0)
- Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita (2013) (0)
- Faculty of 1000 evaluation for Genome-wide association studies of cancer: current insights and future perspectives. (2018) (0)
- Next‐generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17 (2022) (0)
- Abstract 4167: Harvesting knowledge from unexploited genomic data: Estimating relative telomere length from targeted-resequencing (2014) (0)
- Abstract 5100: Development of a direct-measurement molecular assay to determine telomere length in human samples (2014) (0)
- Germline Mutations in Patients Receiving Unrelated Donor Hematopoietic Cell Transplant for Severe Aplastic Anemia (2016) (0)
- Understanding the evolving phenotype of vascular complications in telomere biology disorders (2018) (0)
- Faculty of 1000 evaluation for The wide-ranging clinical implications of the short telomere syndromes. (2018) (0)
- Functional Consequences Of RPS29 Germline Mutations In Diamond-Blackfan Anemia (2013) (0)
- Cover Image, Volume 176A, Number 6, June 2018 (2018) (0)
- Donor Lymphocyte Cell-Specific Telomere Length and Causes of Death after Unrelated Hematopoietic Cell Transplant in Patients with Marrow Failure (2017) (0)
- Faculty Opinions recommendation of Post-hematopoietic stem cell transplant immunization practices in the Pediatric Blood and Marrow Transplant Consortium. (2010) (0)
- Abstract 2036: The Bull's Eye: A research tool to characterize family, friends and social networks within a Li-Fraumeni Syndrome family (2020) (0)
- Who Should Have Multigene Germline Testing for Hereditary Cancer? (2022) (0)
- HIGH GRADE GLIOMAS AND DIPG (2014) (0)
- 202 TINF2 mutations are associated with severe mucocutaneous disease in dyskeratosis congenita (2017) (0)
- Telomere length and epigenetic clocks as markers of cellular aging: a comparative study (2022) (0)
- Characterization of population-based variation and putative functional elements for the multiple-cancer susceptibility loci at 5p15.33 (2014) (0)
- Telomere Shortest Length Assay (TeSLA) Defines the Distribution and Accumulation of the Shortest Telomeres in Dyskeratosis Congenita (2022) (0)
- Abstract 941: Exome sequencing identifiedPOT1, a telomere shelterin gene, as a major susceptibility gene for familial cutaneous malignant melanoma (2014) (0)
- Abstract 1383: Li-Fraumeni syndrome: Clinical experience with family psycho-social issues. (2013) (0)
- cell disease gene and risk for symptomatic stroke in sickle VCAM1 Variants in the (2011) (0)
- Uncovering the genetic etiology of the (post-therapy) broken heart. (2022) (0)
- Cancer-Prone Inherited Bone Marrow Failure, Myelodysplastic, and Acute Myeloid Leukemia Syndromes (2021) (0)
- Faculty of 1000 evaluation for Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. (2018) (0)
- Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles (2021) (0)
- Faculty of 1000 evaluation for Means to the ends: The role of telomeres and telomere processing machinery in metastasis. (2018) (0)
- Abstract 4282: GermlineTP53p.R337H mutations and Li-Fraumeni syndrome: A new variant form of the disease (2017) (0)
- Organization of the shelterin complex and telomerase at chromosomal ends (2016) (0)
- Mutations In TCAB1 Cause Dyskeratosis Congenita (2010) (0)
- Abstract 2749: Cumulative cancer risk in the NCI Li-Fraumeni Syndrome Cohort (2015) (0)
- Longitudinal Changes In Telomere Length In Patients with Dyskeratosis Congenita (2010) (0)
- Faculty Opinions recommendation of Telomere length and risk of incident cancer and cancer mortality. (2010) (0)
- Abstract 3473: Psychosocial functioning in research participants at enrollment in a Li-Fraumeni syndrome study (2016) (0)
- Disease Progression and Outcomes in Patients with Telomere Biology Disorders (2020) (0)
- Abstract 1428: DNA methylation predicts early onset of primary tumor in patients with Li-Fraumeni syndrome (2022) (0)
- EP1236: UNDERSTANDING LIVER DISEASE AND IT'S PROGRESSION IN DYSKERATOSIS CONGENITA AND RELATED TELOMERE BIOLOGY DISORDERS (2022) (0)
- Faculty of 1000 evaluation for Genome-wide association study of telomere length among South Asians identifies a second RTEL1 association signal. (2018) (0)
- Figure 2. [MRI of cerebellar hypoplasia in...]. (2016) (0)
- Table 3. [RTEL1 Pathogenic Variants Discussed in This GeneReview]. (2016) (0)
- Genetic Variation in TERF1 but Not TERF2 Is Associated with Aplastic Anemia Risk. (2005) (0)
- Abstract 5748: Height, birth-weight, and osteosarcoma risk in a large meta-analysis (2010) (0)
- Abstract CT156: Safety and tolerability of metformin for chemoprevention in Li-Fraumeni syndrome (LFS) (2016) (0)
- Pre-HCT Telomere Abnormalities and Mortality after Unrelated Donor Hematopoietic Cell Transplant for Severe Aplastic Anemia (2019) (0)
- Figure 3. [Telomere length and structure are...]. (2016) (0)
- Stress Erythropoiesis and Genetic Regulation of Fetal Hemoglobin in Inherited Bone Marrow Failure Syndromes (2011) (0)
- CANCER GENETICS 1. NEW CHALLENGES IN TREATMENT FOCUSED GENETIC TESTING: A GENETIC COUNSELING PERSPECTIVE (2017) (0)
- Characterization of Novel Natural Mutations in Telomere Binding Protein Factor (TIN2) Identified in Patients with Bone-Marrow Failure Syndromes (2008) (0)
- Faculty of 1000 evaluation for Telomere Length and the Cancer-Atherosclerosis Trade-Off. (2018) (0)
- Abstract LB-172: Understanding the mechanism underlying vitamin D and prostate cancer: Exploring telomere length (2019) (0)
- Faculty Opinions recommendation of Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. (2013) (0)
- Short Communication Variants of the IL8 and IL8RB Genes and Risk for Gastric Cardia Adenocarcinoma and Esophageal Squamous Cell Carcinoma (2004) (0)
- Abstract 2753: The germline TP53 p.R337H mutation: a putative selective advantage (2015) (0)
- Abstract 5801: Rates of risk reducing mastectomy in women with Li-Fraumeni Syndrome (2020) (0)
- Faculty Opinions recommendation of Depressive and anxiety disorders and short leukocyte telomere length: mediating effects of metabolic stress and lifestyle factors. (2018) (0)
- Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome (2023) (0)
- Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome (2023) (0)
- Abstract 2434: Characterizing age-of-onset of multiple primary cancers and specific cancer types in families with Li-Fraumeni syndrome (2019) (0)
- Faculty Opinions recommendation of Prenatal air pollution and newborns' predisposition to accelerated biological aging. (2018) (0)
- Abstract LB-330: Genetic variants in the 9p21 region in relation to the risk of multiple tumors (2012) (0)
- Germline-Somatic Interactions in Myelofibrosis Susceptibility (2021) (0)
- TIN2 Mutations In Dyskeratosis Congenita Cause Telomere Shortening In Induced Pluripotent Stem Cells Through Potent Dominant Negative Inhibition Of Telomerase (2013) (0)
- Abstract 2860: Identification of genes associated with osteosarcoma using a genetic pathway approach (2010) (0)
- Fundamental immune–oncogenicity trade-offs define driver mutation fitness (2022) (0)
- Faculty of 1000 evaluation for Association between exposure to second-hand smoke and telomere length: cross-sectional study of 1303 non-smokers. (2018) (0)
- Faculty of 1000 evaluation for Evolution of telomere maintenance and tumour suppressor mechanisms across mammals. (2018) (0)
- Relationship between plasma 25-hydroxymitamin D and leucocyte telomere length by sex and race in a US study – CORRIGENDUM (2018) (0)
- Avascular Necrosis and Minimal Trauma Bone Fractures in Patients with Dyskeratosis Congenita (2022) (0)
- Genes Encoding Telomere-Binding Proteins TERF1, TERF2 and TIN2 Are mutated in Patients with Acquired Aplastic Anemia. (2004) (0)
- Faculty Opinions recommendation of Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21. (2018) (0)
- Understanding the mechanism underlying vitamin D and prostate cancer: Exploring telomere length (2019) (0)
- Faculty Opinions recommendation of Short Leukocyte Telomere Length Precedes Clinical Expression of Atherosclerosis: The Blood-and-Muscle Model. (2018) (0)
- ESTABLISHMENT OF AN INTERNATIONAL DIFFUSE INTRINSIC PONTINE GLIOMA (DIPG) REGISTRY (2014) (0)
- Faculty Opinions recommendation of Telomere length and telomerase activity impact the UV sensitivity syndrome xeroderma pigmentosum C. (2013) (0)
- The First Single Center Phenotypic Comparison of Fanconi Anemia, Dyskeratosis Congenita, Diamond-Blackfan Anemia, and Shwachman- Diamond Syndrome: The NCI IBMFS Cohort. (2008) (0)
- Faculty Opinions recommendation of Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. (2012) (0)
- Bone Marrow Cellular Composition and Inflammatory Cytokine Expression in Patients with Inherited Bone Marrow Failure Syndromes (2012) (0)
- Genome-Wide Association Study Identifies an Immune-Related Etiology for Severe Aplastic Anemia (2019) (0)
- Genome-wide association study identifies novel loci associated with osteosarcoma (2013) (0)
- Null Results in Brief Polymorphisms in Interleukin -2, -6, and -10 Are Not Associated with Gastric Cardia or Esophageal Cancer in a High-Risk Chinese Population (2004) (0)
- Calcium signal transduction targets in invasion and metastasis : Metastases (1994) (0)
- Significance of Bone Marrow Karyotype and Morphology in Patients with Inherited Bone Marrow Failure Syndromes (2011) (0)
- Identifying Children With Leukemia Predisposition Syndromes (2017) (0)
- Abstract 4108: Understanding the role of telomere biology gene variation in cancer etiology (2022) (0)
- Risk of differential cancer types over age in families with Li-Fraumeni syndrome: a validation study using multi-center cohorts (2019) (0)
- Faculty of 1000 evaluation for Telomere length dynamics in early life: the blood-and-muscle model. (2018) (0)
- Abstract 1202: Genetically inferred telomere length is associated with clonal copy number alterations in peripheral leukocytes (2020) (0)
- Faculty Opinions recommendation of A telomerase component is defective in the human disease dyskeratosis congenita. (2018) (0)
- Table 1B. [Molecular Genetics of DC: Less Common Genetic Causes]. (2016) (0)
- Donor Telomere Length Predicts Recipient Survival after Allogeneic Hematopoietic Cell Transplantation in Patients with Bone Marrow Failure Syndromes (2014) (0)
- Abstract CN10-02: Rare disorders informing cancer biology: Lessons learned from dyskeratosis congenita (2015) (0)
- Abstract 2077: Genome-wide association study identifies theGLDC/IL33locus associated with survival of osteosarcoma patients (2018) (0)
- OI0422 Oral leukoplakia in dyskeratosis congenita: associations between genotype and phenotype (2014) (0)
- Abstract 2542: Evidence for large somatic structural events detected as autosomal genetic mosaicism in GWAS data. (2013) (0)
- Figure 1. [Examples of the dyskeratosis congenita...]. (2016) (0)
- Faculty Opinions recommendation of Prenatal tobacco exposure shortens telomere length in children. (2018) (0)
- Telomere length shortening and gastric cancer risk in a high risk Polish population (2008) (0)
- Dyskeratosis Congenita with a Novel Variant in the DKC1 Gene (2018) (0)
- Genetic variation and hematopoietic stem cell transplantation: expansion of the paradigm (2003) (0)
- Buildup from birth onward of short telomeres in human hematopoietic cells. (2023) (0)
- Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls (2018) (0)
- [Table, GeneReview Scope]. (2016) (0)
- F1000Prime recommendation of Cigarette smoking and telomere length: A systematic review of 84 studies and meta-analysis. (2018) (0)
- Germline Mutations in RTEL1 cause Dyskeratosis Congenita (2012) (0)
- Publication of Second Edition Telomere Biology Disorders: Diagnosis and Management Guidelines (2022) (0)
- Bone Marrow Fibrosis in Patients with Inherited Bone Marrow Failure Syndromes. (2009) (0)
- Abstract 3316: Screening blood tests and cancer detection in Li-Fraumeni syndrome (2019) (0)
- Ophthalmic Manifestations of the Inherited Bone Marrow Failure Syndromes (2009) (0)
- Recipient Pre-HCT Telomere Length and Outcomes after Unrelated Donor HCT for Acute Leukemia (2017) (0)
- Faculty of 1000 evaluation for Telomere length and depression: prospective cohort study and Mendelian randomisation study in 67 306 individuals. (2018) (0)
- TINF2 Mutations In Patients with Aplastic Anemia Result In Low TIN2 Expression In Hematopoietic Cells and Very Short Telomeres. (2010) (0)
- Faculty of 1000 evaluation for Comparison of telomere length measurement methods. (2018) (0)
- Hemochromatosis mutations, dementia and brain iron deposition: a prospective cohort study (2020) (0)
- Fundamental immune–oncogenicity trade-offs define driver mutation fitness (2022) (0)
- F1000Prime recommendation of Perceived stress and telomere length: A systematic review, meta-analysis, and methodologic considerations for advancing the field. (2018) (0)
- Five Novel Deleterious Variants in FANCA, FANCF and FANCG Identified in Pakistani Fanconi Anemia Families Using Exome Sequencing (2020) (0)
- Abstract 4159: Gonadal mosaicism in a family withTP53-associated Li-Fraumeni syndrome (2019) (0)
- Faculty Opinions recommendation of Extensive Proliferation of Human Cancer Cells with Ever-Shorter Telomeres. (2018) (0)
- F1000Prime recommendation of Mediterranean diet and telomere length in high cardiovascular risk subjects from the PREDIMED-NAVARRA study. (2018) (0)
- Chronic Inflammation Drives p53 Mutant Clonal Hematopoiesis Via Activating the NLRP1 Inflammasome (2022) (0)
- Faculty of 1000 evaluation for Shorter telomere length in Europeans than in Africans due to polygenetic adaptation. (2018) (0)
- Faculty Opinions recommendation of Telomeres in cancer: tumour suppression and genome instability. (2018) (0)
- Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome (2021) (0)
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