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.

2012

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: September 11, 2024