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Author Details
Full Name
Sharon A Savage
Affiliation
Clinical Genetics Branch, National Cancer Institute (NCI)
ORCID
Career Start Year
1988
Papers
245
H Index
62
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
36627407
Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome.
Fam Cancer
2023
37596165
Genetically inferred birthweight, height, and puberty timing and risk of osteosarcoma.
Cancer Epidemiol
2023
36696392
Inflated expectations: Rare-variant association analysis using public controls.
PLoS One
2023
36627407
Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome.
Fam Cancer
2023
37191632
What is the future of telomere length testing in telomere biology disorders?
Expert Rev Hematol
2023
37377903
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Cancer Res Commun
2023
37184208
Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.
Hepatology
2023
37118904
Buildup from birth onward of short telomeres in human hematopoietic cells.
Aging Cell
2023
36542832
Differential diagnosis of bone marrow failure syndromes guided by machine learning.
Blood
2023
37354000
The distribution and accumulation of the shortest telomeres in telomere biology disorders.
Br J Haematol
2023
37506213
Control of protein synthesis through mRNA pseudouridylation by dyskerin.
Sci Adv
2023
37596165
Genetically inferred birthweight, height, and puberty timing and risk of osteosarcoma.
Cancer Epidemiol
2023
37506213
Control of protein synthesis through mRNA pseudouridylation by dyskerin.
Sci Adv
2023
37354000
The distribution and accumulation of the shortest telomeres in telomere biology disorders.
Br J Haematol
2023
37191632
What is the future of telomere length testing in telomere biology disorders?
Expert Rev Hematol
2023
37118904
Buildup from birth onward of short telomeres in human hematopoietic cells.
Aging Cell
2023
37184208
Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.
Hepatology
2023
37377903
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Cancer Res Commun
2023
36696392
Inflated expectations: Rare-variant association analysis using public controls.
PLoS One
2023
36542832
Differential diagnosis of bone marrow failure syndromes guided by machine learning.
Blood
2023
34076823
Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome.
Fam Cancer
2022
35585300
Telomere length and epigenetic clocks as markers of cellular aging: a comparative study.
Geroscience
2022
35835913
Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries.
Nat Genet
2022
36166722
Who Should Have Multigene Germline Testing for Hereditary Cancer?
J Clin Oncol
2022
35698269
Uncovering the Genetic Etiology of the (Posttherapy) Broken Heart.
J Natl Cancer Inst
2022
35641605
Author Correction: Fundamental immune-oncogenicity trade-offs define driver mutation fitness.
Nature
2022
36075929
Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis.
Nat Commun
2022
35545680
Fundamental immune-oncogenicity trade-offs define driver mutation fitness.
Nature
2022
35352025
The TP53 Database: transition from the International Agency for Research on Cancer to the US National Cancer Institute.
Cell Death Differ
2022
36116037
Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17.
Hum Mutat
2022
35776903
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
Blood
2022
36485133
Dyskeratosis congenita and telomere biology disorders.
Hematology Am Soc Hematol Educ Program
2022
34076823
Utility of interim blood tests for cancer screening in Li-Fraumeni syndrome.
Fam Cancer
2022
35322185
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Pediatr Res
2022
34852175
Disease progression and clinical outcomes in telomere biology disorders.
Blood
2022
35175322
Telomere biology disorders gain a family member.
Blood
2022
35183552
Spectrum and Incidence of Skin Cancer among Individuals with Li-Fraumeni Syndrome.
J Invest Dermatol
2022
34652547
Uptake and timing of bilateral and contralateral risk-reducing mastectomy in women with Li-Fraumeni syndrome.
Breast Cancer Res Treat
2022
34929494
Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita.
EBioMedicine
2022
35585300
Telomere length and epigenetic clocks as markers of cellular aging: a comparative study.
Geroscience
2022
35352025
The TP53 Database: transition from the International Agency for Research on Cancer to the US National Cancer Institute.
Cell Death Differ
2022
35545680
Fundamental immune-oncogenicity trade-offs define driver mutation fitness.
Nature
2022
35835913
Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries.
Nat Genet
2022
35641605
Author Correction: Fundamental immune-oncogenicity trade-offs define driver mutation fitness.
Nature
2022
35698269
Uncovering the Genetic Etiology of the (Posttherapy) Broken Heart.
J Natl Cancer Inst
2022
35776903
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
Blood
2022
36485133
Dyskeratosis congenita and telomere biology disorders.
Hematology Am Soc Hematol Educ Program
2022
36075929
Germline-somatic JAK2 interactions are associated with clonal expansion in myelofibrosis.
Nat Commun
2022
36166722
Who Should Have Multigene Germline Testing for Hereditary Cancer?
J Clin Oncol
2022
36116037
Next-generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17.
Hum Mutat
2022
1 - 50 of 490
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