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This page is an archive and is provided for historical reference purposes only. The content and links are no longer maintained and may now be outdated.

Approved Medical Sequencing Projects

 
Initiative Disorder Contributing Investigator OMIM Number Center Status
Mendelian Lymphedema-Cholestasis Syndrome (LCS; Aagenaes Syndrome) Laura Bull
Completed
Mendelian Joubert Syndrome (JBTS1) Joseph Gleeson
Completed
Mendelian Dominant Restrictive Cardiomyopathy Margart Wallace
Completed
Mendelian Thoracic Aortic Aneurysms and Dissection (TAAD1) Dianna Milewicz
Completed
Mendelian Paroxysmal Kinesigenic Dyskinesia (PKD) Louis Ptacek
Completed
Mendelian Atrial Fibrillation, Dominant (ATFB2) Calum MacRae
Completed
Allelic Spectrum Age-Related Macular Degenration Goncalo Abecasis
 
In Progress
Allelic Spectrum Diabetes Michael Boehnke
 
In Progress - Combined with Freimer
Allelic Spectrum Metabolic Syndrome Nelson Freimer
 
In Progress - Combined with Boehnke
Allelic Spectrum Cardiovascular Disease Christine Seidman
 
In Progress
Allelic Spectrum Schizophrenia Patrick Sullivan
 
Sequencing Completed
Allelic Spectrum Cardiovascular Disease/Diabetes Eric Boerwinkle
 
 
Not Yet Assigned
Allelic Spectrum Early Onset Stroke Steven Kittner
 
 
Not Yet Assigned
Allelic Spectrum Neural Tube Defects Jasper Rine
 
 
Not Yet Assigned
Allelic Spectrum Tetralogy of Fallot Christine Seidman
 
 
Not Yet Assigned

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Last Reviewed: April 18, 2014