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Theres no question that every child with a presumed genetic disease should have their exome sequenced, said Dr. Goldstein. Sequencing only tells us exactly what a patient has, and what to do therapeutically, a fraction of the time. But it happens often enough that its worth doing on a routine basis. Our intention at Columbia is to ensure that any such patients have their genomes carefully interpreted. Cold Spring Harbor Molecular Case Studies is a new publication from Cold Spring Harbor Laboratory presenting genomic and molecular analyses of individuals or groups of patients, alongside clinical findings, to provide insights into disease development and treatment. The first paper is titled, Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition. In addition to Dr. Goldstein, contributors are: Slave Petrovski (CUMC, University of Melbourne, Austin Health and doctor home loans Oak Laurel 0430129662 Royal Melbourne Hospital, Melbourne, Victoria, Australia), Vandana Shashi (Duke University School of Medicine, Durham, NC), Steven Petrou (Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia), Kelly Schoch (Duke), Keisha Melodi McSweeney (CUMC), Ryan S. Dhindsa (CUMC), Brian Krueger (CUMC), Rebecca Crimian (Duke), Laura E. Case (Duke), Roha Khalid (Duke), Maysantoine A.


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