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P591: Parental needs during pediatric whole genome sequencing for developmental disorders: An interview study by Priyanka Murali, Joon-Ho Yu, Kate MacDuffie, Michael Bamshad, Daniel Doherty, Olivia Sommerland, Betty Cohn, Tesla Theoryn, Sara Wang, Paul Kruszka
Published 2025-01-01Get full text
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P634: Clinical impact of RNA sequencing on VUS resolution in a diverse rare disease cohort of over 100,000 patients* by Melanie Napier, Elizabeth Williams, Shamila Yusuff, Adi Reich, Hua Gao, Jacob Zyskind, Julianna Spangler, Katie Schafer, Bethany Friedman, Paul Kruszka, Joseph Devaney, Britt Johnson
Published 2025-01-01Get full text
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MGA-related syndrome: A proposed novel disorder by Bobbi McGivern, Michelle M. Morrow, Erin Torti, Kirsty McWalter, Ingrid M. Wentzensen, Kristin G. Monaghan, Amanda Gerard, Laurie Robak, David Chitayat, Claire Botsford, Sarah Jurgensmeyer, Peter Leahy, Paul Kruszka
Published 2025-01-01Get full text
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Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing by Alexandra C. Keefe, Dana M. Jensen, Meranda M. Pham, Natalie Y T Au, Erika Beckman, Monica Penon-Portmann, Emily Shelkowitz, Renee Bend, Michelle M. Morrow, Paul Kruszka, Divya Vats, Bianca E. Russell, Erica Chan, Derek Wong, Ahna Rabani, Lauren O’Grady, Inderneel Sahai, Kimberly Widmeyer, Ethan D. Sperry, Barbara E. Hallinan, Rebecca Tryon, Troy C. Lund, Florian S. Eichler, Angela Sun, James T. Bennett
Published 2025-05-01Get full text
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