Accomplishments in Genomic Medicine

The NHGRI Genomic Medicine Working Group (GMWG) is compiling 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.

The GMWG published the following notable accomplishments:

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

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 - Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

First Author: Saunders, C

Category: Sequencing

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

First Author: Ligt, J

Category: Sequencing

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

First Author: Koboldt, D

Category: Other

September 04, 2012 - Activity and safety of crizotinib in patients with ALK-positive non-small-cell lung cancer: updated results from a phase 1 study

First Author: Camidge, D

Category: Pharmacogenomics

August 22, 2012 - Tracking a Hospital Outbreak of Carbapenem - Resistant Klebsiella Pneumoniae With Whole-Genome Sequencing

First Author: Snitkin, E

Category: Sequencing

August 08, 2012 - Vemurafenib: a new treatment for BRAF-V600 mutated advanced melanoma

First Author: Fisher, R

Category: Pharmacogenomics

June 22, 2012 - Noninvasive Whole-Genome Sequencing of a Human Fetus

First Author: Kitzman, J

Category: Sequencing

April 11, 2012 - Universal Noninvasive Detection of Solid Organ Transplant Rejection

First Author: Snyder, T

Category: Sequencing

March 15, 2012 - Personal Omics Profiling Reveals Dynamic Moledular and Medical Phenotypes

First Author: Chen, R

Category: Sequencing

March 08, 2012 - Intratumor heterogeneity and branched evolution revealed by multiregion sequencing

First Author: Gerlinger, M

Category: Other

February 16, 2012 - Truncations of Tintin Causing Dilated Cardiomyopathy

First Author: Herman, D

Category: Sequencing , Gene-Disease Validation

2011

November 03, 2011 - A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation

First Author: Ramsey, B

Category: Pharmacogenomics

August 17, 2011 - Computational Repositioning of the Anticonvulsant Topiramate for Inflammatory Bowel Disease

First Author: Dudley, J

Category: Pharmacogenomics

March 13, 2011 - Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

First Author: Worthey, E

Category: Sequencing , Undiagnosed Diseases

February 03, 2011 - NT5E mutations and arterial calcifications

First Author: St Hilaire, C

Category: Gene-Disease Validation

January 07, 2011 - Massive genomic rearrangement acquired in a single catastrophic event during cancer development

First Author: Stephens, P

Category: Sequencing

Related Resources

Clinical Pharmacogenetics Implementation Consortium (CPIC®) Guidelines

Genomic Medicine Working Group | NHGRI

Genomic Medicine Working Group

Double helix and doctor

Research Funding

Division of Genomic Medicine

Last updated: December 10, 2023