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Lista de obras de Sharon A. Savage

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes

scientific article published on 13 December 2019

A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma

artículo científico publicado en 2015

A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma

artículo científico publicado en 2011

A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma

artículo científico publicado en 2011

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

artículo científico publicado en 2009

A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome

artículo científico publicado en 2020

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

artículo científico publicado en 2013

A role for heterochromatin protein 1γ at human telomeres

artículo científico publicado en 2011

Abstract 2753: The germline TP53 p.R337H mutation: a putative selective advantage

Abstract 2860: Identification of genes associated with osteosarcoma using a genetic pathway approach

article

Abstract 4167: Harvesting knowledge from unexploited genomic data: Estimating relative telomere length from targeted-resequencing

article

Abstract 4282: GermlineTP53p.R337H mutations and Li-Fraumeni syndrome: A new variant form of the disease

Abstract 4593: Genome-wide association study identifies novel loci associated with osteosarcoma

Abstract 5574: High prevalence of germline TP53 mutations in young osteosarcoma cases

Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies

scientific article published on 08 January 2020

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes

artículo científico publicado en 2013

Aplastic Anemia & MDS International Foundation (AA&MDSIF): bone marrow failure disease scientific symposium 2012.

artículo científico publicado en 2013

Association between coffee drinking and telomere length in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial

scientific article published on 08 January 2020

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

artículo científico publicado en 2015

Association between zidovudine-containing antiretroviral therapy exposure in utero and leukocyte telomere length at birth

artículo científico publicado en 2019

Author Correction: Fundamental immune–oncogenicity trade-offs define driver mutation fitness

artículo científico publicado en 2022

Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis

artículo científico publicado en 2017

Beginning at the ends: telomeres and human disease.

artículo científico publicado en 2018

Beyond the triad: inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenita

artículo científico publicado en 2017

Bone cancer: Is the osteosarcoma genome targetable?

artículo científico publicado en 2017

Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.

artículo científico publicado en 2014

Bone mineral density in patients with inherited bone marrow failure syndromes

artículo científico publicado en 2017

CNS manifestations in patients with telomere biology disorders

scientific article published on 29 October 2019

Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome

artículo científico publicado en 2017

Cancer genetic association studies in the genome-wide age.

artículo científico publicado en 2008

Cancer in dyskeratosis congenita

artículo científico publicado en 2009

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.

artículo científico publicado en 2017

Case-parent analysis of variation in pubertal hormone genes and pediatric osteosarcoma: a Children's Oncology Group (COG) study

artículo científico publicado en 2012

Characterization of large structural genetic mosaicism in human autosome

artículo científico publicado en 2015

Characterization of population-based variation and putative functional elements for the multiple-cancer susceptibility loci at 5p15.33

artículo científico publicado en 2014

Chromosomal Aberrations and Survival after Unrelated Donor Hematopoietic Stem Cell Transplant in Patients with Fanconi Anemia

artículo científico publicado en 2018

Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia.

artículo científico publicado en 2017

Common genetic variants in the 9p21 region and their associations with multiple tumours

artículo científico publicado en 2013

Communication behaviors associated with successful conversation in semantic variant primary progressive aphasia

artículo científico

Comparison of chromosome breakage in non-mosaic and mosaic patients with Fanconi anemia, relatives, and patients with other inherited bone marrow failure syndromes

artículo científico publicado en 2014

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.

artículo científico publicado en 2018

Connecting complex disorders through biology.

artículo científico publicado en 2012

Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives.

artículo científico publicado en 2017

Corrigendum re “Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma” [Eur Urol 2017;72:747–54]

scholarly article published in European Urology

Corrigendum: 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes

artículo científico publicado en 2020

Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence.

artículo científico publicado en 2018

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 Internati

artículo científico publicado en 2017

Current state of pediatric sarcoma biology and opportunities for future discovery: A report from the sarcoma translational research workshop.

artículo científico publicado en 2016

DNA-methylation-based telomere length estimator: comparisons with measurements from flow FISH and qPCR

artículo científico publicado en 2021

Detectable clonal mosaicism and its relationship to aging and cancer

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

artículo científico publicado en 2011

Donor Telomere Length and Causes of Death after Unrelated Hematopoietic Cell Transplant in Patients with Marrow Failure.

artículo científico publicado en 2018

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders

artículo científico publicado en 2014

Dyskeratosis congenita

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.

artículo científico publicado en 2018

Dyskeratosis congenita: the first NIH clinical research workshop

artículo científico publicado en 2009

Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Effect of breastfeeding on the risk of breast cancer in Li-Fraumeni syndrome

Effect of pre-analytic variables on the reproducibility of qPCR relative telomere length measurement

artículo científico publicado en 2017

Epidemiologic evidence for a role of telomere dysfunction in cancer etiology

artículo científico publicado en 2012

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia

artículo científico publicado en 2012

Estimating TP53 Mutation Carrier Probability in Families with Li-Fraumeni Syndrome Using LFSPRO.

artículo científico publicado en 2017

Expansion of germline RPS20 mutation phenotype to include Diamond Blackfan anemia

artículo científico publicado en 2020

Family Health Leaders: Lessons on Living with Li-Fraumeni Syndrome across Generations

artículo científico publicado en 2019

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

artículo científico publicado en 2016

Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma

scientific article published on 19 March 2020

Fundamental immune-oncogenicity trade-offs define driver mutation fitness

artículo científico publicado en 2022

Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders

scientific article published on 21 September 2020

Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma ⬇️

artículo científico publicado en 2017

Genetic association studies in cancer: good, bad or no longer ugly?

artículo científico publicado en 2006

Genetic association studies: where are we now?

article by Sharon Savage published November 2006 in Personalized Medicine

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes

artículo científico publicado en 2013

Genetic regulation of nonsense-mediated decay underlies association with risk of severe COVID-19

artículo científico publicado en 2021

Genetic variation and hematopoietic stem cell transplantation: expansion of the paradigm

artículo científico publicado en 2003

Genetic variation at chromosome 8q24 in osteosarcoma cases and controls

artículo científico publicado en 2010

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

artículo científico publicado en 2007

Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia.

artículo científico publicado en 2006

Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraint

artículo científico publicado en 2005

Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes

artículo científico publicado en 2020

Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia

scientific article published on 30 January 2020

Genome-wide association study identifies the GLDC/IL33 locus associated with survival of osteosarcoma patients

artículo científico publicado en 2017

Genome-wide association study identifies two susceptibility loci for osteosarcoma

artículo científico publicado en 2013

Genome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with leukocyte telomere length in a Punjabi Sikh diabetic cohort

artículo científico publicado en 2014

Genome-wide association study of relative telomere length

artículo científico publicado en 2011

Genomic characterization of the inherited bone marrow failure syndromes

artículo científico publicado en 2013

Genomic clues to ethnic differences in ALL.

artículo científico publicado en 2014

Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A

artículo científico publicado en 2020

Germ-line genetic variation ofTP53 in osteosarcoma

article

Germline TP53 variants and susceptibility to osteosarcoma.

artículo científico publicado en 2015

Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.

artículo científico publicado en 2017

Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance

scientific article published on 10 April 2020

Germline mutations in Protection of Telomeres 1 in two families with Hodgkin lymphoma.

artículo científico publicado en 2018

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

artículo científico publicado en 2013

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

HG-14CLINICAL, RADIOGRAPHIC, AND HISTOLOGIC CHARACTERISTICS OF LONG-TERM SURVIVORS OF DIFFUSE INTRINSIC PONTINE GLIOMA: A REPORT FROM THE INTERNATIONAL DIPG REGISTRY.

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.

artículo científico

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Human telomeres and telomere biology disorders

artículo científico publicado en 2014

Immune status of patients with inherited bone marrow failure syndromes

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndrome

artículo científico publicado en 2016

Interleukin-8 Polymorphisms Are Not Associated with Gastric Cancer Risk in a Polish Population

artículo científico publicado en 2006

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

artículo científico publicado en 2009

Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations

artículo científico publicado en 2016

LINE-1 methylation is inherited in familial testicular cancer kindreds

artículo científico publicado en 2010

Late Effects Screening Guidelines after Hematopoietic Cell Transplantation (HCT) for Inherited Bone Marrow Failure Syndromes (IBMFS): Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on La

artículo científico publicado en 2017

Leukocyte telomere length in a population-based case-control study of ovarian cancer: a pilot study

artículo científico publicado en 2009

Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium

artículo científico publicado en 2012

Lifetime pesticide use and telomere shortening among male pesticide applicators in the Agricultural Health Study

artículo científico publicado en 2013

Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Mouse Homolog of the Human TP53 R337H Mutation Reveals Its Role in Tumorigenesis

scientific article published on 24 July 2018

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

artículo científico publicado en 2013

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

artículo científico publicado en 2006

Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia

artículo científico publicado en 2018

Neonatal manifestations of inherited bone marrow failure syndromes

artículo científico publicado en 2015

Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology?

artículo científico publicado en 2012

No association between donor telomere length and outcomes after allogeneic unrelated hematopoietic cell transplant in patients with acute leukemia.

artículo científico publicado en 2017

Novel FANCI mutations in Fanconi anemia with VACTERL association.

artículo científico publicado en 2015

Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.

artículo científico

Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

artículo científico publicado en 2008

Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita

artículo científico publicado en 2009

On the interplay of telomeres, nevi and the risk of melanoma

artículo científico publicado en 2012

On the nose: Olfactory disturbances in patients with transient epileptic amnesia.

artículo científico publicado en 2016

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 Ne

artículo científico publicado en 2010

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

artículo científico publicado en 2009

Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita

artículo científico publicado en 2013

Parathyroid tumor development involves deregulation of homeobox genes

artículo científico publicado en 2008

Parent decision-making around the genetic testing of children for germline TP53 mutations

artículo científico publicado en 2014

Patterns of bone sarcomas as a second malignancy in relation to radiotherapy in adulthood and histologic type

artículo científico publicado en 2012

Pediatric leukemia susceptibility disorders: manifestations and management.

artículo científico publicado en 2017

Penetrance of Different Cancer Types in Families with Li-Fraumeni Syndrome: A Validation Study Using Multicenter Cohorts

scientific article published on 12 November 2019

Pesticide Use and Relative Leukocyte Telomere Length in the Agricultural Health Study

artículo científico publicado en 2015

Polymorphisms in interleukin -2, -6, and -10 are not associated with gastric cardia or esophageal cancer in a high-risk chinese population

article

Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia

scientific article published on 23 January 2020

Pre-transplant short telomeres are associated with high mortality risk after unrelated donor haematopoietic cell transplant for severe aplastic anaemia

scientific article published on 19 August 2019

Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort

artículo científico publicado en 2017

Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.

artículo científico publicado en 2017

Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort

artículo científico publicado en 2017

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

article

Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder

scientific article published on 01 October 2019

Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure.

artículo científico publicado en 2017

Promoter methylation of candidate genes associated with familial testicular cancer

artículo científico publicado en 2012

Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.

artículo científico publicado en 2016

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

artículo científico publicado en 2014

Re-equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction

scientific article published on 16 September 2020

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.

artículo científico publicado en 2017

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice

artículo científico publicado en 2017

Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes

artículo científico publicado en 2014

Regulation of cell spreading during differentiation in the muscarinic M5 receptor tumor-suppressor model

artículo científico publicado en 1997

Relationship between plasma 25-hydroxymitamin D and leucocyte telomere length by sex and race in a US study - CORRIGENDUM

artículo científico publicado en 2018

Relationship between plasma 25-hydroxymitamin D and leucocyte telomere length by sex and race in a US study.

artículo científico publicado en 2016

Relative Telomere Length before Hematopoietic Cell Transplantation and Outcome after Unrelated Donor Hematopoietic Cell Transplantation for Acute Leukemia.

artículo científico publicado en 2017

Reproductive factors associated with breast cancer risk in Li-Fraumeni syndrome

scientific article published on 15 June 2019

Research participant interest in primary, secondary, and incidental genomic findings.

artículo científico publicado en 2016

Response to androgen therapy in patients with dyskeratosis congenita

artículo científico publicado en 2014

Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic

artículo científico publicado en 2019

Risk of Second Primary Bone and Soft-Tissue Sarcomas Among Young Adulthood Cancer Survivors

scientific article published on 20 June 2019

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

artículo científico publicado en 2016

Secondary supratentorial primitive neuroectodermal tumor following treatment of childhood osteosarcoma

artículo científico publicado en 2009

Semantic dementia (semantic variant primary progressive aphasia)

scholarly article

Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita

artículo científico publicado en 2011

Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

scientific article published on 10 December 2020

Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirus

artículo científico publicado en 2013

Structure and function of the human Gly1619Arg polymorphism of M6P/IGF2R domain 11 implicated in IGF2 dependent growth

artículo científico publicado en 2009

Successful short-term re-learning and generalisation of concepts in semantic dementia

artículo científico

Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

artículo científico publicado en 2020

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

artículo científico publicado en 2008

Telomere Length Calibration from qPCR Measurement: Limitations of Current Method

artículo científico publicado en 2018

Telomere biology in hematopoiesis and stem cell transplantation

artículo científico publicado en 2011

Telomere length and risk of glioma

artículo científico publicado en 2013

Telomere length and the risk of cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations

artículo científico publicado en 2013

Telomere length and variation in telomere biology genes in individuals with osteosarcoma

artículo científico publicado en 2010

Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes

artículo científico publicado en 2010

Telomere length in inherited bone marrow failure syndromes

artículo científico publicado en 2014

Telomere length in peripheral leukocyte DNA and gastric cancer risk

artículo científico publicado en 2009

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Telomere stability genes are not mutated in osteosarcoma cell lines

artículo científico publicado en 2005

Telomeres and the natural lifespan limit in humans

artículo científico publicado en 2017

Telomeres in molecular epidemiology studies.

artículo científico publicado en 2014

The Biomarkers of Exposure and Effect in Agriculture (BEEA) Study: Rationale, Design, Methods, and Participant Characteristics

artículo científico publicado en 2015

The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita

artículo científico publicado en 2011

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

artículo científico publicado en 2009

The association of telomere length and cancer: a meta-analysis

artículo científico publicado en 2011

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

artículo científico publicado en 2010

The evidence for prostate cancer risk loci at 8q24 grows stronger

artículo científico publicado en 2007

The genetics and clinical manifestations of telomere biology disorders

artículo científico publicado en 2010

The genomics of inherited bone marrow failure: from mechanism to the clinic.

artículo científico publicado en 2017

The international diffuse intrinsic pontine glioma registry: an infrastructure to accelerate collaborative research for an orphan disease.

artículo científico publicado en 2017

The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita

artículo científico publicado en 2016

The long and short of telomeres and cancer association studies

artículo científico publicado en 2013

The relationship between DNA methylation and telomere length in dyskeratosis congenita

artículo científico publicado en 2011

The role of telomere biology in bone marrow failure and other disorders

artículo científico publicado en 2007

The shelterin complex and hematopoiesis.

artículo científico publicado en 2016

Toward a drug development path that targets metastatic progression in osteosarcoma.

artículo científico publicado en 2014

Understanding the evolving phenotype of vascular complications in telomere biology disorders

artículo científico publicado en 2018

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder

artículo científico publicado en 2015

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

artículo científico

Using epidemiology and genomics to understand osteosarcoma etiology

artículo científico publicado en 2011

Using germ-line genetic variation to investigate and treat cancer

artículo científico publicado en 2004

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis

article

Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease

artículo científico publicado en 2002

Variants of the IL8 and IL8RB genes and risk for gastric cardia adenocarcinoma and esophageal squamous cell carcinoma

article

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

Worldwide genetic structure in 37 genes important in telomere biology

artículo científico publicado en 2011

XAF1 as a modifier of p53 function and cancer susceptibility

scientific article published on 24 June 2020

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