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P262: Transformative care through genome sequencing: Insights from the first 100 patients in the CincyKidsSeq Study by Kristin Theobald, Farrah Jackson, Jaime Lopes, Amelle Shillington, Hassan Chaib, Brian Dawson, Laurelle Kinga-Bakienga, Michael Pauciulo, Anne Slavotinek
Published 2025-01-01Get full text
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Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic by Luca Marsili, Kevin R. Duque, Jesus Abanto, Nathaly O. Chinchihualpa Paredes, Andrew P. Duker, Kathleen Collins, Marcelo Miranda, M. Leonor Bustamante, Michael Pauciulo, Michael Dixon, Hassan Chaib, Josefina Perez-Maturo, Emily J. Hill, Alberto J. Espay, Marcelo A. Kauffman
Published 2024-11-01Get full text
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Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling by Malene E. Lindholm, Sarah Abramowitz, Sarah Abramowitz, Daryl M. Waggott, Megan E. Grove, Frederick E. Dewey, Frederick E. Dewey, Cuiping Pan, Aleksandra Pavlovic, Ching Shang, Yong Huang, Leore Bensabath, Rachel L. Goldfeder, Pablo Cordero, Ayca Erbilgin, Ayca Erbilgin, James R. Priest, James R. Priest, Hassan Chaib, Megan J. Puckelwartz, Sharlene M. Day, Elizabeth M. McNally, Thomas Cappola, Gerald W. Dorn, Euan A. Ashley, Euan A. Ashley, Euan A. Ashley, Euan A. Ashley, Matthew T. Wheeler, Matthew T. Wheeler
Published 2025-07-01Get full text
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