Charting a course for genomic medicine from base pairs to bedside

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) Marylyn D. Ritchie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Future Health Applications of Genomics

(2010) Colleen M. McBride et al.   AMERICAN JOURNAL OF PREVENTIVE MEDICINE

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

(2010) Iuliana Oita et al.   ANALYTICAL AND BIOANALYTICAL CHEMISTRY

Using Genetic Diagnosis to Determine Individual Therapeutic Utility

(2010) C. Thomas Caskey   Annual Review of Medicine

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

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

(2010) J. C. Denny et al.   BIOINFORMATICS

Autophagy and Crohns Disease: At the Crossroads of Infection, Inflammation, Immunity, and Cancer

(2010) P. Brest et al.   CURRENT MOLECULAR MEDICINE

Genetics of type 2 diabetes

(2010) Galina Smushkin et al.   CURRENT OPINION IN CLINICAL NUTRITION AND METABOLIC CARE

PhenX: a toolkit for interdisciplinary genetics research

(2010) Patrick J Stover et al.   CURRENT OPINION IN LIPIDOLOGY

Emerging therapies for cystic fibrosis lung disease

(2010) Hartmut Grasemann et al.   EXPERT OPINION ON EMERGING DRUGS

Health Information Technology: Laying The Infrastructure For National Health Reform

(2010) Melinda Beeuwkes Buntin et al.   HEALTH AFFAIRS

Enhancing the Feasibility of Large Cohort Studies

(2010) Teri A. Manolio et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

An Overview of Newborn Screening

(2010) Paul A. Levy   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Glad You Asked: Participants' Opinions of Re-Consent for DbGap Data Submission

(2010) Evette J. Ludman et al.   Journal of Empirical Research on Human Research Ethics

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

(2010) S. N. Murphy et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

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

(2010) C. J. Robinson et al.   MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS

Signatures of mutation and selection in the cancer genome

(2010) Graham R. Bignell et al.   NATURE

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

International network of cancer genome projects

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

A human gut microbial gene catalogue established by metagenomic sequencing

(2010) Junjie Qin et al.   NATURE

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

(2010) Andrew P Feinberg   NATURE BIOTECHNOLOGY

Epigenetic modifications and human disease

(2010) Anna Portela et al.   NATURE BIOTECHNOLOGY

The NIH Roadmap Epigenomics Mapping Consortium

(2010) Bradley E Bernstein et al.   NATURE BIOTECHNOLOGY

Annotating non-coding regions of the genome

(2010) Roger P. Alexander et al.   NATURE REVIEWS GENETICS

Advances in understanding cancer genomes through second-generation sequencing

(2010) Matthew Meyerson et al.   NATURE REVIEWS GENETICS

Ancestry and Disease in the Age of Genomic Medicine

(2010) Charles N. Rotimi et al.   NEW ENGLAND JOURNAL OF MEDICINE

New Therapeutic Approaches to Mendelian Disorders

(2010) Harry C. Dietz   NEW ENGLAND JOURNAL OF MEDICINE

Genomewide Association Studies and Assessment of the Risk of Disease

(2010) Teri A. Manolio   NEW ENGLAND JOURNAL OF MEDICINE

Inhibition of Mutated, Activated BRAF in Metastatic Melanoma

(2010) Keith T. Flaherty et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2010) Susan Hiraki et al.   OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA

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

(2010) Grigorios Loukides et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Debating Clinical Utility

(2010) W. Burke et al.   Public Health Genomics

DNA Returned to Tribe, Raising Questions About Consent

(2010) J. Couzin-Frankel   SCIENCE

Prepublication Data Release, Latency, and Genome Commons

(2010) J. L. Contreras   SCIENCE

Identification of Functional Elements and Regulatory Circuits by Drosophila modENCODE

(2010) et al.   SCIENCE

Integrative Analysis of the Caenorhabditis elegans Genome by the modENCODE Project

(2010) M. B. Gerstein et al.   SCIENCE

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

(2010) I. S. Kohane et al.   Science Translational Medicine

The case for cloud computing in genome informatics

(2010) Lincoln D Stein   GENOME BIOLOGY

Direct sequencing of the human microbiome readily reveals community differences

(2010) Justin Kuczynski et al.   GENOME BIOLOGY

Do genetic and individual risk factors moderate the efficacy of motivational enhancement therapy? Drinking outcomes with an emerging adult sample

(2009) Sarah W. Feldstein Ewing et al.   ADDICTION BIOLOGY

The Genetics of Crohn's Disease

(2009) Johan Van Limbergen et al.   Annual Review of Genomics and Human Genetics

Pharmacogenetics of antiretrovirals

(2009) Valerio Tozzi   ANTIVIRAL RESEARCH

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

(2009) Edward Ramos et al.   BMC Medical Genomics

Linking somatic genetic alterations in cancer to therapeutics

(2009) Darrin Stuart et al.   CURRENT OPINION IN CELL BIOLOGY

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

(2009) S. Murphy et al.   GENOME RESEARCH

The NIH Human Microbiome Project

(2009) et al.   GENOME RESEARCH

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

Fragile X syndrome: from molecular genetics to therapy

(2009) C D'Hulst et al.   JOURNAL OF MEDICAL GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Prepublication data sharing

(2009)   NATURE

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

IDH1andIDH2Mutations in Gliomas

(2009) Hai Yan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gefitinib or Carboplatin–Paclitaxel in Pulmonary Adenocarcinoma

(2009) Tony S. Mok et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Next generation disparities in human genomics: concerns and remedies

(2009) Anna C. Need et al.   TRENDS IN GENETICS

Recent advances and method development for drug target identification

(2009) Janet N.Y. Chan et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

The Use of Genomics in Clinical Trial Design

(2008) R. Simon   CLINICAL CANCER RESEARCH

Managing Incidental Findings in Human Subjects Research: Analysis and Recommendations

(2008) Susan M. Wolf et al.   JOURNAL OF LAW MEDICINE & ETHICS

A Genecentric Human Protein Atlas for Expression Profiles Based on Antibodies

(2008) Lisa Berglund et al.   MOLECULAR & CELLULAR PROTEOMICS

Antibodypedia, a Portal for Sharing Antibody and Antigen Validation Data

(2008) Erik Björling et al.   MOLECULAR & CELLULAR PROTEOMICS

A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells

(2008) Ken Cadwell et al.   NATURE

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

(2008) Timothy J. Ley et al.   NATURE

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

(2008) Roger McLendon et al.   NATURE

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

(2008) W H Linda Kao et al.   NATURE GENETICS

Keeping Pace with the Times — The Genetic Information Nondiscrimination Act of 2008

(2008) Kathy L. Hudson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Angiotensin II Blockade and Aortic-Root Dilation in Marfan's Syndrome

(2008) Benjamin S. Brooke et al.   NEW ENGLAND JOURNAL OF MEDICINE

Pharmacogenomic Biomarker Information in Drug Labels Approved by the United States Food and Drug Administration: Prevalence of Related Drug Use

(2008) Felix W Frueh et al.   PHARMACOTHERAPY

Research ethics and the challenge of whole-genome sequencing

(2007) Amy L. McGuire et al.   NATURE REVIEWS GENETICS