Lista de obras - Stuart A Scott - Dominio Público Uruguay

5-Aza-2'-deoxycytidine (decitabine) can relieve p21WAF1 repression in human acute myeloid leukemia by a mechanism involving release of histone deacetylase 1 (HDAC1) without requiring p21WAF1 promoter demethylation.

artículo científico publicado en 2005

A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype.

scientific article published on 02 March 2016

An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.

artículo científico publicado en 2013

An allele-specific PCR system for rapid detection and discrimination of the CYP2C19∗4A, ∗4B, and ∗17 alleles: implications for clopidogrel response testing.

artículo científico publicado en 2013

Antiplatelet drug interactions with proton pump inhibitors

artículo científico publicado en 2013

Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans

artículo científico publicado en 2017

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

artículo científico publicado en 2016

CYP2C19 But Not PON1 Genetic Variants Influence Clopidogrel Pharmacokinetics, Pharmacodynamics, and Clinical Efficacy in Post–Myocardial Infarction Patients

artículo científico publicado en 2011

CYP2C9 allelic variants and frequencies in a pediatric sickle cell disease cohort: implications for NSAIDs pharmacotherapy

artículo científico publicado en 2014

CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population.

artículo científico publicado en 2007

Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project

artículo científico publicado en 2015

Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA.

artículo científico publicado en 2017

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors

artículo científico publicado en 2015

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C19 and Voriconazole Therapy.

artículo científico publicado en 2016

Clinical Pharmacogenetics Implementation Consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update.

artículo científico publicado en 2013

Clinical determinants of clopidogrel responsiveness in a heterogeneous cohort of Puerto Rican Hispanics.

artículo científico publicado en 2017

Combined and independent impact of diabetes mellitus and chronic kidney disease on residual platelet reactivity

artículo científico publicado en 2013

Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population.

artículo científico publicado en 2010

Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.

artículo científico publicado en 2017

Copy Number Variation and Warfarin Dosing: Evaluation of CYP2C9 , VKORC1 , CYP4F2 , GGCX and CALU ⬇️

artículo científico publicado el 21 de diciembre de 2011

Correlation between imatinib pharmacokinetics and clinical response in Japanese patients with chronic-phase chronic myeloid leukemia.

artículo científico publicado en 2010

DNA Methylation Profiling Using Long-Read Single Molecule Real-Time Bisulfite Sequencing (SMRT-BS).

artículo científico publicado en 2017

Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems

artículo científico publicado en 2014

Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection

artículo científico publicado en 2020

Digital Health Applications for Pharmacogenetic Clinical Trials

artículo científico publicado en 2020

Effect of CYP4F2, VKORC1, and CYP2C9 in Influencing Coumarin Dose: A Single-Patient Data Meta-Analysis in More Than 15,000 Individuals

artículo científico publicado en 2019

Effect of cilostazol on platelet reactivity among patients with peripheral artery disease on clopidogrel therapy.

artículo científico publicado en 2018

Erratum: Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

artículo científico publicado en 2017

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases ⬇️

artículo científico publicado el 1 de noviembre de 2010

Familial inheritance of the 3q29 microdeletion syndrome: case report and review

article

Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

artículo científico publicado en 2013

Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study

artículo científico publicado en 2013

Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects

artículo científico publicado en 2020

Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness ⬇️

artículo científico publicado el 1 de marzo de 2011

Impact of the CYP4F2 p.V433M polymorphism on coumarin dose requirement: systematic review and meta-analysis

artículo científico publicado en 2012

Implementing Algorithm-Guided Warfarin Dosing in an Ethnically Diverse Patient Population Using Electronic Health Records and Preemptive CYP2C9 and VKORC1 Genetic Testing

artículo científico publicado en 2016

Incorporation of pharmacogenomics into routine clinical practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process

artículo científico publicado en 2014

Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia.

artículo científico publicado en 2011

Induction of ID1 expression and apoptosis by the histone deacetylase inhibitor (trichostatin A) in human acute myeloid leukaemic cells.

artículo científico publicado en 2008

Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection

scientific article published on 06 December 2018

Interpreting and Implementing Clinical Pharmacogenetic Tests: Perspectives From Service Providers

scientific article published on 04 June 2019

Knowledge and attitudes on pharmacogenetics among pediatricians

artículo científico publicado en 2020

Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy.

artículo científico publicado en 2012

Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.

artículo científico publicado en 2010

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

artículo científico publicado en 2017

Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.

artículo científico publicado en 2017

Methylation status of cyclin-dependent kinase inhibitor genes within the transforming growth factor beta pathway in human T-cell lymphoblastic lymphoma/leukemia.

artículo científico publicado en 2004

Microsatellite mutations of transforming growth factor-beta receptor type II and caspase-5 occur in human precursor T-cell lymphoblastic lymphomas/leukemias in vivo but are not associated with hMSH2 or hMLH1 promoter methylation

artículo científico publicado en 2003

Modeling susceptibility to drug-induced long QT with a panel of subject-specific induced pluripotent stem cells

artículo científico publicado en 2017

Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification

artículo científico publicado en 2018

Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes.

artículo científico publicado en 2012

Multi-ethnic genome-wide association study for atrial fibrillation

article

Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing

scientific article published on 21 March 2019

Multisite Investigation of Strategies for the Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy.

artículo científico publicado en 2017

Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.

artículo científico publicado en 2014

Personalizing medicine with clinical pharmacogenetics ⬇️

artículo científico publicado el 1 de diciembre de 2011

PharmGKB summary: very important pharmacogene information for cytochrome P450, family 2, subfamily C, polypeptide 19.

artículo científico publicado en 2012

Pharmacogene Variation Consortium Gene Introduction: NUDT15

article

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.

artículo científico publicado en 2015

Pharmacogenetic association study on clopidogrel response in Puerto Rican Hispanics with cardiovascular disease: a novel characterization of a Caribbean population.

artículo científico publicado en 2018

Pharmacogenetics in Jewish populations.

artículo científico publicado en 2014

Pharmacokinetics of dasatinib for Philadelphia-positive acute lymphocytic leukemia with acquired T315I mutation ⬇️

artículo científico publicado el 15 de mayo de 2012

Phased Haplotype Resolution of the SLC6A4 Promoter Using Long-Read Single Molecule Real-Time (SMRT) Sequencing

artículo científico publicado en 2020

Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach

artículo científico publicado en 2016

Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints

scientific article published on 19 June 2019

Recommendations for Clinical CYP2C19 Genotyping Allele Selection: A Report of the Association for Molecular Pathology.

artículo científico publicado en 2018

Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)

artículo científico publicado en 2016

Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles

scientific article published on 01 November 2019

The CLIPMERGE PGx Program: clinical implementation of personalized medicine through electronic health records and genomics-pharmacogenomics

artículo científico publicado en 2013

The CYP2D6 VCF Translator.

artículo científico publicado en 2016

The pharmacogenetic control of antiplatelet response: candidate genes and CYP2C19

artículo científico publicado en 2015

Warfarin Anticoagulation Therapy in Caribbean Hispanics of Puerto Rico: A Candidate Gene Association Study

artículo científico publicado en 2017

Warfarin pharmacogenetic trials: is there a future for pharmacogenetic-guided dosing?

artículo científico publicado en 2014

Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.

artículo científico publicado en 2008

Zebularine inhibits human acute myeloid leukemia cell growth in vitro in association with p15INK4B demethylation and reexpression.

artículo científico publicado en 2007

Lista de obras de Stuart A Scott

5-Aza-2'-deoxycytidine (decitabine) can relieve p21WAF1 repression in human acute myeloid leukemia by a mechanism involving release of histone deacetylase 1 (HDAC1) without requiring p21WAF1 promoter demethylation.

A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype.

An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.

An allele-specific PCR system for rapid detection and discrimination of the CYP2C19∗4A, ∗4B, and ∗17 alleles: implications for clopidogrel response testing.

Antiplatelet drug interactions with proton pump inhibitors

Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

CYP2C19 But Not PON1 Genetic Variants Influence Clopidogrel Pharmacokinetics, Pharmacodynamics, and Clinical Efficacy in Post–Myocardial Infarction Patients

CYP2C9 allelic variants and frequencies in a pediatric sickle cell disease cohort: implications for NSAIDs pharmacotherapy

CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population.

Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project

Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA.

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C19 and Voriconazole Therapy.

Clinical Pharmacogenetics Implementation Consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update.

Clinical determinants of clopidogrel responsiveness in a heterogeneous cohort of Puerto Rican Hispanics.

Combined and independent impact of diabetes mellitus and chronic kidney disease on residual platelet reactivity

Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population.

Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.

Copy Number Variation and Warfarin Dosing: Evaluation of CYP2C9 , VKORC1 , CYP4F2 , GGCX and CALU ⬇️

Correlation between imatinib pharmacokinetics and clinical response in Japanese patients with chronic-phase chronic myeloid leukemia.

DNA Methylation Profiling Using Long-Read Single Molecule Real-Time Bisulfite Sequencing (SMRT-BS).

Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems

Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection

Digital Health Applications for Pharmacogenetic Clinical Trials

Effect of CYP4F2, VKORC1, and CYP2C9 in Influencing Coumarin Dose: A Single-Patient Data Meta-Analysis in More Than 15,000 Individuals

Effect of cilostazol on platelet reactivity among patients with peripheral artery disease on clopidogrel therapy.

Erratum: Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases ⬇️

Familial inheritance of the 3q29 microdeletion syndrome: case report and review

Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study

Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects

Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness ⬇️

Impact of the CYP4F2 p.V433M polymorphism on coumarin dose requirement: systematic review and meta-analysis

Implementing Algorithm-Guided Warfarin Dosing in an Ethnically Diverse Patient Population Using Electronic Health Records and Preemptive CYP2C9 and VKORC1 Genetic Testing

Incorporation of pharmacogenomics into routine clinical practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process

Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia.

Induction of ID1 expression and apoptosis by the histone deacetylase inhibitor (trichostatin A) in human acute myeloid leukaemic cells.

Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection

Interpreting and Implementing Clinical Pharmacogenetic Tests: Perspectives From Service Providers

Knowledge and attitudes on pharmacogenetics among pediatricians

Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy.

Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome.

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.

Methylation status of cyclin-dependent kinase inhibitor genes within the transforming growth factor beta pathway in human T-cell lymphoblastic lymphoma/leukemia.

Microsatellite mutations of transforming growth factor-beta receptor type II and caspase-5 occur in human precursor T-cell lymphoblastic lymphomas/leukemias in vivo but are not associated with hMSH2 or hMLH1 promoter methylation

Modeling susceptibility to drug-induced long QT with a panel of subject-specific induced pluripotent stem cells

Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification

Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes.

Multi-ethnic genome-wide association study for atrial fibrillation

Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing

Multisite Investigation of Strategies for the Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy.

Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.

Personalizing medicine with clinical pharmacogenetics ⬇️

PharmGKB summary: very important pharmacogene information for cytochrome P450, family 2, subfamily C, polypeptide 19.

Pharmacogene Variation Consortium Gene Introduction: NUDT15

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.

Pharmacogenetic association study on clopidogrel response in Puerto Rican Hispanics with cardiovascular disease: a novel characterization of a Caribbean population.

Pharmacogenetics in Jewish populations.

Pharmacokinetics of dasatinib for Philadelphia-positive acute lymphocytic leukemia with acquired T315I mutation ⬇️

Phased Haplotype Resolution of the SLC6A4 Promoter Using Long-Read Single Molecule Real-Time (SMRT) Sequencing

Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach

Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints

Recommendations for Clinical CYP2C19 Genotyping Allele Selection: A Report of the Association for Molecular Pathology.

Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)

Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles

The CLIPMERGE PGx Program: clinical implementation of personalized medicine through electronic health records and genomics-pharmacogenomics

The CYP2D6 VCF Translator.

The pharmacogenetic control of antiplatelet response: candidate genes and CYP2C19

Warfarin Anticoagulation Therapy in Caribbean Hispanics of Puerto Rico: A Candidate Gene Association Study

Warfarin pharmacogenetic trials: is there a future for pharmacogenetic-guided dosing?

Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.

Zebularine inhibits human acute myeloid leukemia cell growth in vitro in association with p15INK4B demethylation and reexpression.