Genomic Medicine: A Decade of Successes, Challenges, and Opportunities

Multicenter Validation of the Diagnostic Accuracy of a Blood-Based Gene Expression Test for Assessing Obstructive Coronary Artery Disease in Nondiabetic Patients

(2013) Steven Rosenberg   ANNALS OF INTERNAL MEDICINE

Strategies to Identify the Lynch Syndrome Among Patients With Colorectal Cancer

(2013) Uri Ladabaum et al.   ANNALS OF INTERNAL MEDICINE

Utility of prognostic genomic tests in breast cancer practice: The IMPAKT 2012 Working Group Consensus Statement†

(2013) H. A. Azim et al.   ANNALS OF ONCOLOGY

Rebooting Cancer Tissue Handling in the Sequencing Era

(2013) Laura Goetz et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Crossing the Omic Chasm

(2013) Justin Starren et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease

(2013) Chee-Seng Ku et al.   JOURNAL OF MEDICAL GENETICS

Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer

(2013) Sarah-Jane Dawson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Predictive ability of direct-to-consumer pharmacogenetic testing: when is lack of evidence really lack of evidence?

(2013) Rachel RJ Kalf et al.   PHARMACOGENOMICS

Cancer Pharmacogenomics: Early Promise, But Concerted Effort Needed

(2013) H. L. McLeod   SCIENCE

Identifying Personal Genomes by Surname Inference

(2013) M. Gymrek et al.   SCIENCE

Lineage Structure of the Human Antibody Repertoire in Response to Influenza Vaccination

(2013) N. Jiang et al.   Science Translational Medicine

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

(2012) Michael J. Bamshad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diagnostic Applications of High-Throughput DNA Sequencing

(2012) Scott D. Boyd   Annual Review of Pathology-Mechanisms of Disease

The Genetic Basis for Cancer Treatment Decisions

(2012) Janet E. Dancey et al.   CELL

Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes

(2012) Rui Chen et al.   CELL

Primary care physicians' knowledge of and experience with pharmacogenetic testing

(2012) SB Haga et al.   CLINICAL GENETICS

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Personalized medicine and pharmacogenetic biomarkers: progress in molecular oncology testing

(2012) Frank S Ong et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Enhancing exposure to genetics and genomics through an innovative medical school curriculum

(2012) Shweta U. Dhar et al.   GENETICS IN MEDICINE

The Ethical Hazards and Programmatic Challenges of Genomic Newborn Screening

(2012) Aaron J. Goldenberg et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Comparative Effectiveness Research, Genomics-Enabled Personalized Medicine, and Rapid Learning Health Care: A Common Bond

(2012) Geoffrey S. Ginsburg et al.   JOURNAL OF CLINICAL ONCOLOGY

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

(2012) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Whole-genome sequencing for analysis of an outbreak of meticillin-resistant Staphylococcus aureus: a descriptive study

(2012) Simon R Harris et al.   LANCET INFECTIOUS DISEASES

Politics and fetal diagnostics collide

(2012) Jaime S. King   NATURE

Non-invasive prenatal measurement of the fetal genome

(2012) H. Christina Fan et al.   NATURE

A metagenome-wide association study of gut microbiota in type 2 diabetes

(2012) Junjie Qin et al.   NATURE

Structure, function and diversity of the healthy human microbiome

(2012)   NATURE

Genomic approaches to studying the human microbiota

(2012) George M. Weinstock   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Architecture of the human regulatory network derived from ENCODE data

(2012) Mark B. Gerstein et al.   NATURE

Use of genome-wide association studies for drug repositioning

(2012) Philippe Sanseau et al.   NATURE BIOTECHNOLOGY

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

(2012) Mary J Emond et al.   NATURE GENETICS

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges

(2012) Diana W Bianchi   NATURE MEDICINE

IBD—what role do Proteobacteria play?

(2012) Indrani Mukhopadhya et al.   Nature Reviews Gastroenterology & Hepatology

BRAF Inhibition in Refractory Hairy-Cell Leukemia

(2012) Sascha Dietrich et al.   NEW ENGLAND JOURNAL OF MEDICINE

The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency

(2012) Wendy S. Rubinstein et al.   NUCLEIC ACIDS RESEARCH

Law and Science Collide Over Human Gene Patents

(2012) R. Cook-Deegan   SCIENCE

Genome Sequencing Identifies a Basis for Everolimus Sensitivity

(2012) G. Iyer et al.   SCIENCE

Noninvasive Whole-Genome Sequencing of a Human Fetus

(2012) J. O. Kitzman et al.   Science Translational Medicine

Mechanisms of Acquired Crizotinib Resistance in ALK-Rearranged Lung Cancers

(2012) R. Katayama et al.   Science Translational Medicine

Detection of Chromosomal Alterations in the Circulation of Cancer Patients with Whole-Genome Sequencing

(2012) R. J. Leary et al.   Science Translational Medicine

High-Throughput Sequencing Detects Minimal Residual Disease in Acute T Lymphoblastic Leukemia

(2012) D. Wu et al.   Science Translational Medicine

Tracking a Hospital Outbreak of Carbapenem-Resistant Klebsiella pneumoniae with Whole-Genome Sequencing

(2012) E. S. Snitkin et al.   Science Translational Medicine

Pharmacogenomics of hepatitis C infections: personalizing therapy

(2012) David R Booth et al.   Genome Medicine

Comparison of Family History and SNPs for Predicting Risk of Complex Disease

(2012) Chuong B. Do et al.   PLoS Genetics

Research Conducted Using Data Obtained through Online Communities: Ethical Implications of Methodological Limitations

(2012) A. Cecile J. W. Janssens et al.   PLOS MEDICINE

Point of Care Diagnostics: Status and Future

(2011) Vladimir Gubala et al.   ANALYTICAL CHEMISTRY

The 2008 WHO classification of lymphoid neoplasms and beyond: evolving concepts and practical applications

(2011) E. Campo et al.   BLOOD

Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives

(2011) Elisa JF Houwink et al.   BMC Family Practice

Physician Barriers to Incorporating Pharmacogenetic Treatment Strategies for Nicotine Dependence Into Clinical Practice

(2011) R A Schnoll et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network

(2011) M V Relling et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Facilitating Clinical Implementation of Pharmacogenomics

(2011) David A. Mrazek et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

CYP2C19 Genotype, Clopidogrel Metabolism, Platelet Function, and Cardiovascular Events

(2011) Michael V. Holmes et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Primary Care Physicians’ Awareness, Experience and Opinions of Direct-to-Consumer Genetic Testing

(2011) Karen P. Powell et al.   Journal of Genetic Counseling

International Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society International Multidisciplinary Classification of Lung Adenocarcinoma

(2011) William D. Travis et al.   Journal of Thoracic Oncology

Initial impact of the sequencing of the human genome

(2011) Eric S. Lander   NATURE

Intestinal homeostasis and its breakdown in inflammatory bowel disease

(2011) Kevin J. Maloy et al.   NATURE

Charting a course for genomic medicine from base pairs to bedside

(2011) Eric D. Green et al.   NATURE

Preemptive genotyping trialed to prevent adverse drug reactions

(2011) Elie Dolgin   NATURE MEDICINE

Fecal microbiota transplantation and emerging applications

(2011) Thomas J. Borody et al.   Nature Reviews Gastroenterology & Hepatology

BRAFMutations in Hairy-Cell Leukemia

(2011) Enrico Tiacci et al.   NEW ENGLAND JOURNAL OF MEDICINE

Microbial Genomics and Infectious Diseases

(2011) David A. Relman   NEW ENGLAND JOURNAL OF MEDICINE

Whole-Genome Sequencing and Social-Network Analysis of a Tuberculosis Outbreak

(2011) Jennifer L. Gardy et al.   NEW ENGLAND JOURNAL OF MEDICINE

High-throughput VDJ sequencing for quantification of minimal residual disease in chronic lymphocytic leukemia and immune reconstitution assessment

(2011) A. C. Logan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Universal noninvasive detection of solid organ transplant rejection

(2011) T. M. Snyder et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Academic Medical Centers: Ripe for Rapid-Learning Personalized Health Care

(2011) G. S. Ginsburg et al.   Science Translational Medicine

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Electronic Medical Records for Genetic Research: Results of the eMERGE Consortium

(2011) A. N. Kho et al.   Science Translational Medicine

Computational Repositioning of the Anticonvulsant Topiramate for Inflammatory Bowel Disease

(2011) J. T. Dudley et al.   Science Translational Medicine

Discovery and Preclinical Validation of Drug Indications Using Compendia of Public Gene Expression Data

(2011) M. Sirota et al.   Science Translational Medicine

“Genes to Society”—The Logic and Process of the New Curriculum for the Johns Hopkins University School of Medicine

(2010) Charles M. Wiener et al.   ACADEMIC MEDICINE

Outcomes of interest in evidence-based evaluations of genetic tests

(2010) Jeffrey R Botkin et al.   GENETICS IN MEDICINE

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

A window into third-generation sequencing

(2010) E. E. Schadt et al.   HUMAN MOLECULAR GENETICS

Prediction of Risk of Distant Recurrence Using the 21-Gene Recurrence Score in Node-Negative and Node-Positive Postmenopausal Patients With Breast Cancer Treated With Anastrozole or Tamoxifen: A TransATAC Study

(2010) Mitch Dowsett et al.   JOURNAL OF CLINICAL ONCOLOGY

International network of cancer genome projects

(2010) Thomas J. Hudson (Chairperson) et al.   NATURE

The Origin of the Haitian Cholera Outbreak Strain

(2010) Chen-Shan Chin et al.   NEW ENGLAND JOURNAL OF MEDICINE

Pharmacogenomics and bioinformatics: PharmGKB

(2010) Caroline F Thorn et al.   PHARMACOGENOMICS

Communicating Genetic and Genomic Information: Health Literacy and Numeracy Considerations

(2010) D.H. Lea et al.   Public Health Genomics

Development of Personalized Tumor Biomarkers Using Massively Parallel Sequencing

(2010) R. J. Leary et al.   Science Translational Medicine

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

(2010) Y. M. D. Lo et al.   Science Translational Medicine

Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits

(2010) Nicholas Eriksson et al.   PLoS Genetics

The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes

(2009) J. W. Vardiman et al.   BLOOD

A national clinical decision support infrastructure to enable the widespread and consistent practice of genomic and personalized medicine

(2009) Kensaku Kawamoto et al.   BMC Medical Informatics and Decision Making

Gene Expression Signatures Diagnose Influenza and Other Symptomatic Respiratory Viral Infections in Humans

(2009) Aimee K. Zaas et al.   Cell Host & Microbe

Ethical implications of the use of whole genome methods in medical research

(2009) Jane Kaye et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health–Centers for Disease Control and Prevention Multidisciplinary Workshop

(2009) Muin J Khoury et al.   GENETICS IN MEDICINE

Personal utility and genomic information: Look before you leap

(2009) Scott D Grosse et al.   GENETICS IN MEDICINE

Evaluating the utility of personal genomic information

(2009) Morris W Foster et al.   GENETICS IN MEDICINE

American Society of Clinical Oncology Provisional Clinical Opinion: Testing forKRASGene Mutations in Patients With Metastatic Colorectal Carcinoma to Predict Response to Anti–Epidermal Growth Factor Receptor Monoclonal Antibody Therapy

(2009) Carmen J. Allegra et al.   JOURNAL OF CLINICAL ONCOLOGY

Prognostic and predictive value of the 21-gene recurrence score assay in postmenopausal women with node-positive, oestrogen-receptor-positive breast cancer on chemotherapy: a retrospective analysis of a randomised trial

(2009) Kathy S Albain et al.   LANCET ONCOLOGY

Origins and evolutionary genomics of the 2009 swine-origin H1N1 influenza A epidemic

(2009) Gavin J. D. Smith et al.   NATURE

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy

(2009) Colin J D Ross et al.   NATURE GENETICS

The HER-2 Receptor and Breast Cancer: Ten Years of Targeted Anti-HER-2 Therapy and Personalized Medicine

(2009) J. S. Ross et al.   ONCOLOGIST

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Testing Before Serologic Screening in Relatives of Patients With Celiac Disease as a Cost Containment Method

(2008) Matthew Chang et al.   JOURNAL OF CLINICAL GASTROENTEROLOGY

HLA-B*5701 Screening for Hypersensitivity to Abacavir

(2008) Simon Mallal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

(2008) R. W. K. Chiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

(2008) H. C. Fan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA