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Home>Research>Extramural Research>The Large-Scale Genome Sequencing Program>LSGS: Medical Sequencing Program and Current Initiatives >MSP: Active Medical Sequencing Projects
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Active Medical Sequencing Projects

Initiative Disorder Contributing Investigator OMIM Number Center Status
Mendelian Lymphedema-Cholestasis Syndrome (LCS; Aagenaes Syndrome) Laura Bull
Assigned
Mendelian Joubert Syndrome (JBTS1) Joseph Gleeson
Assigned
Mendelian Dominant Restrictive Cardiomyopathy Margart Wallace
Assigned
Mendelian Thoracic Aortic Aneurysms and Dissection (TAAD1) Dianna Milewicz
Assigned
Mendelian Paroxysmal Kinesigenic Dyskinesia (PKD) Louis Ptacek
Assigned
Mendelian Atrial Fibrillation, Dominant (ATFB3) Calum MacRae
Assigned
Allelic Spectrum Age-Related Macular Degenration Goncalo Abecasis
Not Assigned
Allelic Spectrum Diabetes Michael Boehnke
Assigned
Allelic Spectrum Cardiovascular Disease/Diabetes Eric Boerwinkle
Not Assigned
Allelic Spectrum Metabolic Syndrome Nelson Freimer
Assigned
Allelic Spectrum Early Onset Stroke Steven Kittner
Not Assigned
Allelic Spectrum Neural Tube Defects Jasper Rine
Not Assigned
Allelic Spectrum Cardiovascular Disease Christine Seidman
Assigned
Allelic Spectrum Tetralogy of Fallot Christine Seidman
Not Assigned
Allelic Spectrum Schizophrenia Patrick Sullivan
Assigned

Last Reviewed: January 21, 2009
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