Approved Medical Sequencing Projects
Initiative | Disorder | Contributing Investigator | OMIM Number | Center | Status |
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Mendelian | Lymphedema-Cholestasis Syndrome (LCS; Aagenaes Syndrome) | Laura Bull | Completed |
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Mendelian | Joubert Syndrome (JBTS1) | Joseph Gleeson | Completed |
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Mendelian | Dominant Restrictive Cardiomyopathy | Margart Wallace | Completed |
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Mendelian | Thoracic Aortic Aneurysms and Dissection (TAAD1) | Dianna Milewicz | Completed |
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Mendelian | Paroxysmal Kinesigenic Dyskinesia (PKD) | Louis Ptacek | Completed |
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Mendelian | Atrial Fibrillation, Dominant (ATFB2) | Calum MacRae | Completed |
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Allelic Spectrum | Age-Related Macular Degenration | Goncalo Abecasis | In Progress |
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Allelic Spectrum | Diabetes | Michael Boehnke | In Progress - Combined with Freimer |
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Allelic Spectrum | Metabolic Syndrome | Nelson Freimer | In Progress - Combined with Boehnke |
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Allelic Spectrum | Cardiovascular Disease | Christine Seidman | In Progress |
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Allelic Spectrum | Schizophrenia | Patrick Sullivan | Sequencing Completed |
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Allelic Spectrum | Cardiovascular Disease/Diabetes | Eric Boerwinkle | Not Yet Assigned |
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Allelic Spectrum | Early Onset Stroke | Steven Kittner | Not Yet Assigned |
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Allelic Spectrum | Neural Tube Defects | Jasper Rine | Not Yet Assigned |
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Allelic Spectrum | Tetralogy of Fallot | Christine Seidman | Not Yet Assigned |
Last Reviewed: February 4, 2011