Accomplishments in Genomic Medicine

The NHGRI Genomic Medicine Working Group (GMWG) compiles a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration to the GMWG, please email: GMWG@nih.gov.

Genomic Medicine Year in Review

Search for specific publications by title, author, category and/or by date range. For an explanation about the selection criteria and categories, see the list of categories and their definitions.

2014

September 12, 2014 - Genomic surveillance elucidates Ebola virus origin and transmission during the 2014 outbreak

First Author: Gire, S

Category: Sequencing

August 14, 2014 - Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy

First Author: Audrézet M

Category: Systematic Implementation

August 07, 2014 - Breast-Cancer Risk in Families with Mutations in PALB2

First Author: Antoniou, A

Category: Risk Assessment/Prediction

July 31, 2014 - Spread of Artemisinin Resistance in Plasmodium falciparum Malaria

First Author: Ashley, E

Category: Pharmacogenomics

July 03, 2014 - State-based surveillance for selected hemoglobinopathies

First Author: Hulihan M

Category: Other , Systematic Implementation

July 03, 2014 - Loss-of-function Mutations in APOC3, Triglycerides and Coronary Disease

First Author: TG and HDL Working Group of the Exome Sequencing Project

Category: Sequencing , Gene-Disease Validation

June 04, 2014 - Actionable Diagnosis of Neuroleptospirosis by Next Generation Sequencing

First Author: Wilson, M

Category: Sequencing

May 21, 2014 - Null Mutation in Hormone-Sensitive Lipase Gene and Risk of Type 2 Diabetes

First Author: Albert, J

Category: Sequencing , Gene-Disease Validation

May 21, 2014 - Using Multiplexed Assays of Oncogenic Drivers in Lung Cancers to Select Targeted Drugs

First Author: Kris, M

Category: Pharmacogenomics

March 19, 2014 - Multitarget Stool DNA Testing for Colorectal-Cancer Screening

First Author: Imperiale, T

Category: Risk Assessment/Prediction

March 19, 2014 - Editorial: Stool DNA and Colorectal-Cancer Screening

First Author: Robertson, D

Category: Risk Assessment/Prediction

March 11, 2014 - PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics.

First Author: Hoffman, J

Category: Pharmacogenomics , Systematic Implementation , Systematic Implementation

February 27, 2014 - DNA Sequencing verses Standard Prenatal SAneuploidy Screening

First Author: Bianchi, D

Category: Sequencing

February 26, 2014 - Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome

First Author: Beuschlein, F

Category: Sequencing , Gene-Disease Validation

February 24, 2014 - Impact of Oophorectomy on Cancer Incidence and Mortality in Women with a BRCA1 or BRCA2 Mutation

First Author: Finch, A

Category: Sequencing , Oncology

February 13, 2014 - Genetic Variants in C5 and Poor Response to Eculizumab

First Author: Nishimura, J

Category: Sequencing , Pharmacogenomics

2013

December 25, 2013 - Variant GADL1 and Reponse to Lithium Therapy in Bipolar I Disorder

First Author: Chen, C

Category: Pharmacogenomics

November 01, 2013 - Issues surrounding the health economic evaluation of genomic technologies

First Author: Buchanan J

Category: Other , Systematic Implementation

October 24, 2013 - HLA-B*13:01 and the Dapsone Hypersensitivity Syndrome

First Author: Zhang, F

Category: Risk Assessment/Prediction

October 02, 2013 - Clinical Whole-Exome Sequencing for the Diagnosis of Mendialian Disorders

First Author: Yang, Y

Category: Sequencing

September 19, 2013 - Actionable, Pathogenic Incidental Findings in 1,000 Participants' Exomes

First Author: Dorschner, M

Category: Sequencing , Secondary Findings

September 18, 2013 - A Host-Based RT-PCR Gene Expression SIgnature to Identify Acute Respiratory Viral Infection

First Author: Zaas, A

Category: Other

August 26, 2013 - Development and use of active clinical decision support for preemptive pharmacogenomics

First Author: Bell G

Category: Systematic Implementation , Pharmacogenomics

June 12, 2013 - Therapeutic Targeting of a Robust Non-Oncogene Addiction to PRKDC in ATM-Defective Tumors

First Author: Riabinska, A

Category: Other

March 05, 2013 - The policy of public health genomics in Italy

First Author: Simone B

Category: Resource

2012

November 14, 2012 - Whole - genome sequencing for analysis of an outbreak of meticillin-resistant Staphylococcus aureus: a descriptive study

First Author: Harris, S

Category: Sequencing

October 25, 2012 - Aspirin Use, Tumor PIK3CA Mutation, and Colorectal-Cancer Survival

First Author: Liao, X

Category: Pharmacogenomics , Risk Assessment/Prediction

October 03, 2012 - Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

First Author: Ligt, J

Category: Sequencing

October 03, 2012 - Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

First Author: Saunders, C

Category: Sequencing

September 23, 2012 - Comprehensive molecular portraits of human breast tumours

First Author: Koboldt, D

Category: Other

Related Resources

cpicpgx.org

Clinical Pharmacogenetics Implementation Consortium (CPIC®) Guidelines

About NHGRI

Genomic Medicine Working Group

Research Funding

Division of Genomic Medicine

Last updated: September 11, 2024