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O15: SimPheny: Automated patient matching for genetic diagnosis in rare disease cohorts by Isabelle Cooperstein, Alistair Ward, Barry Moore, Gabor Marth
Published 2025-01-01Get full text
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MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission by Bennet Peterson, Edwin F. Juarez, Barry Moore, Edgar Javier Hernandez, Erwin Frise, Jianrong Li, Yves Lussier, Martin Tristani-Firouzi, Martin G. Reese, Sabrina Malone Jenkins, Stephen F. Kingsmore, Matthew N. Bainbridge, Mark Yandell
Published 2025-06-01Get full text
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The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit by Sabrina Malone Jenkins, Rachel N. Palmquist, Barry Moore, Steven E. Boyden, Thomas J. Nicholas, Pinar Bayrak-Toydemir, Rong Mao, J. Andrew R. Farrell, Carson H. Holt, Shawn G. Rynearson, Chelsea M. Solorzano, Alistair Ward, D. Hunter Best, Najla Al-Sweel, Dawn L. Bentley, Luca Brunelli, Clement Y. Chow, Devin W. Close, Michael J. Cormier, Malia J. Deshotel, Jacob Durtschi, Erik J. Eide, Luaiva Floyd, Eric K. Fredrickson, Makenzie L. Fulmer, Edgar J. Hernandez, Ashley L. Kapron, Mary Anne Karren, Robert G. Lewis, Christine E. Miller, L. Charles Murtaugh, Kelsey E. Nicholson, Katherine Noble, Brendan D. O’Fallon, John M. O’Shea, David C. Pattison, Brent S. Pedersen, Brandy J. Petersen, Bennet D. Peterson, Lucilla Pizzo, Hayley M. Reynolds, Paul Rindler, Carrie B. Torr, Ting Wen, H. Joseph Yost, Jian Zhao, Mark Yandell, Gabor T. Marth, Aaron R. Quinlan, John C. Carey, Brian J. Shayota, Martin Tristani-Firouzi, Joshua L. Bonkowsky
Published 2025-03-01Get full text
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