4.8 Article

Charting a course for genomic medicine from base pairs to bedside

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record

Marylyn D. Ritchie et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Review Public, Environmental & Occupational Health

Future Health Applications of Genomics Priorities for Communication, Behavioral, and Social Sciences Research

Colleen M. McBride et al.

AMERICAN JOURNAL OF PREVENTIVE MEDICINE (2010)

Review Biochemical Research Methods

Microfluidics in macro-biomolecules analysis: macro inside in a nano world

Iuliana Oita et al.

ANALYTICAL AND BIOANALYTICAL CHEMISTRY (2010)

Review Medicine, Research & Experimental

Using Genetic Diagnosis to Determine Individual Therapeutic Utility

C. Thomas Caskey

ANNUAL REVIEW OF MEDICINE (2010)

Review Medicine, Research & Experimental

Structural Variation in the Human Genome and its Role in Disease

Pawel Stankiewicz et al.

ANNUAL REVIEW OF MEDICINE (2010)

Review Pharmacology & Pharmacy

Pharmacogenetics of antiretrovirals

Valerio Tozzi

ANTIVIRAL RESEARCH (2010)

Article Biochemical Research Methods

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

Joshua C. Denny et al.

BIOINFORMATICS (2010)

Review Medicine, Research & Experimental

Autophagy and Crohn's Disease: At the Crossroads of Infection, Inflammation, Immunity, and Cancer

P. Brest et al.

CURRENT MOLECULAR MEDICINE (2010)

Article Endocrinology & Metabolism

Genetics of type 2 diabetes

Galina Smushkin et al.

CURRENT OPINION IN CLINICAL NUTRITION AND METABOLIC CARE (2010)

Review Biochemistry & Molecular Biology

PhenX: a toolkit for interdisciplinary genetics research

Patrick J. Stover et al.

CURRENT OPINION IN LIPIDOLOGY (2010)

Review Pharmacology & Pharmacy

Emerging therapies for cystic fibrosis lung disease

Hartmut Grasemann et al.

EXPERT OPINION ON EMERGING DRUGS (2010)

Article Health Care Sciences & Services

Health Information Technology: Laying The Infrastructure For National Health Reform

Melinda Beeuwkes Buntin et al.

HEALTH AFFAIRS (2010)

Editorial Material Medicine, General & Internal

Enhancing the Feasibility of Large Cohort Studies

Teri A. Manolio et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2010)

Review Behavioral Sciences

An Overview of Newborn Screening

Paul A. Levy

JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS (2010)

Article Ethics

GLAD YOU ASKED: PARTICIPANTS' OPINIONS OF RE-CONSENT FOR DBGAP DATA SUBMISSION

Evette J. Ludman et al.

JOURNAL OF EMPIRICAL RESEARCH ON HUMAN RESEARCH ETHICS (2010)

Article Computer Science, Information Systems

Serving the enterprise and beyond with informatics for integrating biology and the bedside (i2b2)

Shawn N. Murphy et al.

JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION (2010)

Article Multidisciplinary Sciences

Signatures of mutation and selection in the cancer genome

Graham R. Bignell et al.

NATURE (2010)

Article Multidisciplinary Sciences

Integrating common and rare genetic variation in diverse human populations

David M. Altshuler et al.

NATURE (2010)

Article Multidisciplinary Sciences

A map of human genome variation from population-scale sequencing

David Altshuler et al.

NATURE (2010)

Article Multidisciplinary Sciences

International network of cancer genome projects

Thomas J. Hudson et al.

NATURE (2010)

Article Multidisciplinary Sciences

A human gut microbial gene catalogue established by metagenomic sequencing

Junjie Qin et al.

NATURE (2010)

Article Biotechnology & Applied Microbiology

Epigenomics reveals a functional genome anatomy and a new approach to common disease

Andrew P. Feinberg

NATURE BIOTECHNOLOGY (2010)

Review Biotechnology & Applied Microbiology

Epigenetic modifications and human disease

Anna Portela et al.

NATURE BIOTECHNOLOGY (2010)

Article Biotechnology & Applied Microbiology

The NIH Roadmap Epigenomics Mapping Consortium

Bradley E. Bernstein et al.

NATURE BIOTECHNOLOGY (2010)

Review Genetics & Heredity

APPLICATIONS OF NEXT-GENERATION SEQUENCING Sequencing technologies - the next generation

Michael L. Metzker

NATURE REVIEWS GENETICS (2010)

Review Genetics & Heredity

Annotating non-coding regions of the genome

Roger P. Alexander et al.

NATURE REVIEWS GENETICS (2010)

Review Genetics & Heredity

Advances in understanding cancer genomes through second-generation sequencing

Matthew Meyerson et al.

NATURE REVIEWS GENETICS (2010)

Review Microbiology

From Structure to Function: the Ecology of Host-Associated Microbial Communities

Courtney J. Robinson et al.

MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS (2010)

Review Medicine, General & Internal

GENOMIC MEDICINE Ancestry and Disease in the Age of Genomic Medicine

Charles N. Rotimi et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)

Review Medicine, General & Internal

New Therapeutic Approaches to Mendelian Disorders

Harry C. Dietz

NEW ENGLAND JOURNAL OF MEDICINE (2010)

Review Medicine, General & Internal

Genomewide Association Studies and Assessment of the Risk of Disease

Teri A. Manolio

NEW ENGLAND JOURNAL OF MEDICINE (2010)

Article Medicine, General & Internal

Inhibition of Mutated, Activated BRAF in Metastatic Melanoma

Keith T. Flaherty et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)

Article Obstetrics & Gynecology

Newborn Screening for Treatable Genetic Conditions: Past, Present and Future

Susan Hiraki et al.

OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA (2010)

Article Multidisciplinary Sciences

Anonymization of electronic medical records for validating genome-wide association studies

Grigorios Loukides et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)

Article Genetics & Heredity

Debating Clinical Utility

W. Burke et al.

PUBLIC HEALTH GENOMICS (2010)

News Item Multidisciplinary Sciences

ETHICS DNA Returned to Tribe, Raising Questions About Consent

Jennifer Couzin-Frankel

SCIENCE (2010)

Editorial Material Multidisciplinary Sciences

Prepublication Data Release, Latency, and Genome Commons

Jorge L. Contreras

SCIENCE (2010)

Article Multidisciplinary Sciences

Identification of Functional Elements and Regulatory Circuits by Drosophila modENCODE

Sushmita Roy et al.

SCIENCE (2010)

Article Multidisciplinary Sciences

Integrative Analysis of the Caenorhabditis elegans Genome by the modENCODE Project

Mark B. Gerstein et al.

SCIENCE (2010)

Article Cell Biology

Multidimensional Results Reporting to Participants in Genomic Studies: Getting It Right

Isaac S. Kohane et al.

SCIENCE TRANSLATIONAL MEDICINE (2010)

Review Pharmacology & Pharmacy

Recent advances and method development for drug target identification

Janet N. Y. Chan et al.

TRENDS IN PHARMACOLOGICAL SCIENCES (2010)

Review Biotechnology & Applied Microbiology

The case for cloud computing in genome informatics

Lincoln D. Stein

GENOME BIOLOGY (2010)

Review Biotechnology & Applied Microbiology

Direct sequencing of the human microbiome readily reveals community differences

Justin Kuczynski et al.

GENOME BIOLOGY (2010)

Review Genetics & Heredity

The Genetics of Crohn's Disease

Johan Van Limbergen et al.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2009)

Article Genetics & Heredity

The A's, G's, C's, and T's of health disparities

Edward Ramos et al.

BMC MEDICAL GENOMICS (2009)

Article Cell Biology

Linking somatic genetic alterations in cancer to therapeutics

Darrin Stuart et al.

CURRENT OPINION IN CELL BIOLOGY (2009)

Article Biochemistry & Molecular Biology

Instrumenting the health care enterprise for discovery research in the genomic era

Shawn Murphy et al.

GENOME RESEARCH (2009)

Article Biochemistry & Molecular Biology

The NIH Human Microbiome Project

Jane Peterson et al.

GENOME RESEARCH (2009)

Review Genetics & Heredity

Fragile X syndrome: from molecular genetics to therapy

C. D'Hulst et al.

JOURNAL OF MEDICAL GENETICS (2009)

Review Multidisciplinary Sciences

Finding the missing heritability of complex diseases

Teri A. Manolio et al.

NATURE (2009)

Editorial Material Multidisciplinary Sciences

Prepublication data sharing

NATURE (2009)

Article Medicine, General & Internal

IDH1 and IDH2 Mutations in Gliomas

Hai Yan et al.

NEW ENGLAND JOURNAL OF MEDICINE (2009)

Article Medicine, General & Internal

Gefitinib or Carboplatin-Paclitaxel in Pulmonary Adenocarcinoma.

Tony S. Mok et al.

NEW ENGLAND JOURNAL OF MEDICINE (2009)

Article Multidisciplinary Sciences

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Lucia A. Hindorff et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)

Review Genetics & Heredity

Next generation disparities in human genomics: concerns and remedies

Anna C. Need et al.

TRENDS IN GENETICS (2009)

Article Oncology

The Use of Genomics in Clinical Trial Design

Richard Simon

CLINICAL CANCER RESEARCH (2008)

Article Ethics

Managing incidental findings in human subjects research: Analysis and recommendations

Susan M. Wolf et al.

JOURNAL OF LAW MEDICINE & ETHICS (2008)

Review Biochemical Research Methods

A Genecentric Human Protein Atlas for Expression Profiles Based on Antibodies

Lisa Berglund et al.

MOLECULAR & CELLULAR PROTEOMICS (2008)

Article Biochemical Research Methods

Antibodypedia, a Portal for Sharing Antibody and Antigen Validation Data

Erik Bjorling et al.

MOLECULAR & CELLULAR PROTEOMICS (2008)

Article Multidisciplinary Sciences

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

Timothy J. Ley et al.

NATURE (2008)

Article Genetics & Heredity

MYH9 is associated with nondiabetic end-stage renal disease in African Americans

W. H. Linda Kao et al.

NATURE GENETICS (2008)

Review Genetics & Heredity

Science and Society - Research ethics and the challenge of whole-genome sequencing

Amy L. McGuire et al.

NATURE REVIEWS GENETICS (2008)

Editorial Material Medicine, General & Internal

Keeping pace with the times - The Genetic Information Nondiscrimination Act of 2008

Kathy L. Hudson et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Medicine, General & Internal

Angiotensin II blockade and aortic-root dilation in Marfan's syndrome

Benjamin S. Brooke et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Medical Laboratory Technology

Applications of nanobiotechnology in clinical diagnostics

Kewal K. Jain

CLINICAL CHEMISTRY (2007)

Article Biochemistry & Molecular Biology

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

Elliott H. Margulies et al.

GENOME RESEARCH (2007)

Article Oncology

The impact of cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen

Matthew P. Goetz et al.

BREAST CANCER RESEARCH AND TREATMENT (2007)

Article Multidisciplinary Sciences

Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men

Matthew L. Freedman et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Article Medicine, General & Internal

Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose

MJ Rieder et al.

NEW ENGLAND JOURNAL OF MEDICINE (2005)

Article Multidisciplinary Sciences

Complement factor H polymorphism in age-related macular degeneration

RJ Klein et al.

SCIENCE (2005)

Article Multidisciplinary Sciences

EGF receptor gene mutations are common in lung cancers from never smokers and are associated with sensitivity of tumors to gefitinib and erlotinib

W Pao et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)

Article Genetics & Heredity

The knockout mouse project

CP Austin et al.

NATURE GENETICS (2004)

Article Medicine, General & Internal

A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer

S Paik et al.

NEW ENGLAND JOURNAL OF MEDICINE (2004)

Article Multidisciplinary Sciences

Targeted cancer therapy

C Sawyers

NATURE (2004)

Article Medicine, General & Internal

Genetic research and health disparities

P Sankar et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2004)

Article Multidisciplinary Sciences

Finishing the euchromatic sequence of the human genome

FS Collins et al.

NATURE (2004)

Article Multidisciplinary Sciences

A vision for the future of genomics research

FS Collins et al.

NATURE (2003)

Article Biochemistry & Molecular Biology

The SNP Consortium website: past, present and future

GA Thorisson et al.

NUCLEIC ACIDS RESEARCH (2003)

Article Medicine, General & Internal

A gene-expression signature as a predictor of survival in breast cancer.

MJ van de Vijver et al.

NEW ENGLAND JOURNAL OF MEDICINE (2002)

Article Medicine, General & Internal

Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia.

BJ Druker et al.

NEW ENGLAND JOURNAL OF MEDICINE (2001)

Review Multidisciplinary Sciences

Initial sequencing and analysis of the human genome

ES Lander et al.

NATURE (2001)