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Authors whose works are in public domain in at least one jurisdiction

List of works by 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.

scientific article published on 25 July 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.

scientific article published on 20 June 2013

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

scientific article published on 5 September 2013

Antiplatelet drug interactions with proton pump inhibitors

scientific article

Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans

scientific article published on March 2017

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

scientific article published on January 2016

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

scientific article published on 04 October 2011

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 29 June 2015

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

scientific article published on 16 December 2016

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

scientific article published on 22 May 2013

Clinical Pharmacogenomics: Opportunities and Challenges at Point of Care ⬇️

scientific article published on December 5, 2012

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

scientific article

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

scientific article published on 16 May 2013

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

scientific article

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

scientific article published on 11 May 2017

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

scientific article published on December 21, 2011

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

scientific article published on 27 October 2010

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

scientific article published in January 2017

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

scientific article

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

scientific article published on 23 July 2020

Digital Health Applications for Pharmacogenetic Clinical Trials

scientific article published on 26 October 2020

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

scientific article published on 17 February 2019

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

scientific article published on 6 February 2018

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

scientific article published in July 2017

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

scientific article published on November 1, 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.

scientific article published on 29 July 2013

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

scientific article published on 05 June 2013

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

scientific article published on 05 March 2020

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

scientific article published on March 1, 2011

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

scientific article

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

scientific article published on 9 July 2016

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

scientific article

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

scientific article published on July 2011

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

scientific article published in February 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

scientific article published on 27 January 2020

Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy.

scientific article published on 06 September 2012

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

scientific article

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

scientific article

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

scientific article published on 20 March 2017

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

scientific article published in December 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

scientific article published on 01 January 2003

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

scientific article published on 30 January 2017

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

scientific article published on 23 May 2018

Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation ⬇️

scientific article published on November 20, 2012

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

scientific article

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.

scientific article published on 26 December 2017

Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.

scientific article published on 17 November 2014

Personalizing medicine with clinical pharmacogenetics ⬇️

scientific article published on December 1, 2011

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

scientific article

Pharmacogene Variation Consortium Gene Introduction: NUDT15

article

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

scientific article published on 19 October 2015

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

scientific article published on 8 June 2018

Pharmacogenetics in Jewish populations.

scientific article

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

scientific article published on May 15, 2012

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

scientific article published on 12 November 2020

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

scientific article published on 22 February 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

scientific article published on 20 February 2018

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

scientific article published on 21 July 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

scientific article published on 03 April 2013

The CYP2D6 VCF Translator.

scientific article published on 15 March 2016

The pharmacogenetic control of antiplatelet response: candidate genes and CYP2C19

scientific article (publication date: 2015)

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on February 2007

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