P415: Multi-dimensional and longitudinal impact of a genetic diagnosis for infants in an intensive care unit by Monica Wojcik, Maya del Rosario, Ingrid Holm

Get full text

P893: Disparities in pediatric exome sequencing outcomes by Jacklyn Omorodion, Asma Rashid, Olaf Bodamer, Monica Wojcik

Get full text

P010: Genetic testing is incompletely sensitive for treatable inherited metabolic disorders by Sarah Bick, Monica Wojcik, Robert Green, Nina Gold

Get full text

P865: Rare disease narratives on social media by Cassidy Scott, Hannah Park, Hadley Smith, Monica Wojcik

Get full text

P551: Provider perspectives on genomic care in safety-net neonatal intensive care units by Monica Wojcik, Alissa D'Gama, Sonia Hills, Jessica Douglas, Timothy Yu, Pankaj Agrawal, Margaret Parker

Get full text

P800: Non-mosaic trisomy 9: Prenatal and fetal autopsy findings with further delineation of the clinical phenotype by Abdallah Elias, Michael Gordon, Bradley Holbrook, Olivia Maher, Tabitha Poorvu, Tammy Schwalbe, Maija Trout, Monica Wojcik, Amy Zearfoss

Get full text

P672: Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females by Danny Miller, Camille Dash, David Miller, Miranda Galey, Jasmine Lin, Jill A. Madden, Alan Beggs, Pankaj Agrawal, Casie Genetti, Monica Wojcik

Get full text

P378: Inter-center variation in the availability and provision of genetic medicine services in Level IV NICUs* by Bimal Chaudhari, Luca Brunelli, Katharine Callahan, Nahed ElHassan, Kristen Fishler, Semsa Gogcu, Karna Murthy, Jennifer Rumpel, Kristen Suhrie, Jennifer Wambach, Monica Wojcik

Get full text

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease by Katherine B. Howell, Susan M. White, Amy McTague, Alissa M. D’Gama, Gregory Costain, Annapurna Poduri, Ingrid E. Scheffer, Vann Chau, Lindsay D. Smith, Sarah E. M. Stephenson, Monica Wojcik, Andrew Davidson, Neil Sebire, Piotr Sliz, Alan H. Beggs, Lyn S. Chitty, Ronald D. Cohn, Christian R. Marshall, Nancy C. Andrews, Kathryn N. North, J. Helen Cross, John Christodoulou, Stephen W. Scherer

Get full text

P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease* by Christina Austin-Tse, Stephanie DiTroia, Melanie O'Leary, Grace VanNoy, Brian Mangilog, Gulalai Shah, Eva Martinez, Jillian Serrano, Lynn Pais, Emily O'Heir, Ikeoluwa Osei-Owusu, Gabrielle Lemire, Vijay Ganesh, Sarah Stenton, Mutaz Amin, Kayla Socarras, Mugdha Singh, Stacey Hall, Katie Larsson, Moriel Singer-Berk, Daniel Marten, Michael Wilson, Hana Snow, Benjamin Blankenmeister, Jialan Ma, Ben Weisburd, Alba Sanchis-Juan, Harrison Brand, Emily Groopman, Alysia Lovgren, Clara Williamson, Marissa Hollyer, Eleina England, Eleanor Seaby, Katherine Chao, Julia Goodrich, Samantha Baxter, Daniel MacArthur, Michael Talkowski, Monica Wojcik, Anne O'Donnell-Luria, Heidi Rehm

Get full text

P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies* by Philip Boone, Kamli Faour, Kiana Mohajeri, John Lemanski, Bimal Jana, Jack Fu, Jennifer Kerkhof, Haley McConkey, Ryan Collins, Diane Lucente, Celine de Esch, Mariana Moysés-Oliveira, Alexander Nuttle, Aloysius Domingo, Serkan Erdin, Maris Hanley, Amy Watt, Eric Surette, Gloria Lima, Laura Smith, Monica Salani, Rachita Yadav, Ricardo Harripaul, Kathryn O’Keefe, Nicholas Burt, Matthew Larson, Riya Bhavsar, Benjamin Currall, Susan Sell, Roger Ladda, LaDonna Immken, Catherine Buchanan, Bo Yuan, Sally Lynch, Christian Gilissen, Rolph Pfundt, Charlotte Ockeloen, Tjitske Kleefstra, Els Vanhoutte, Margje Sinnema, Sander Stegmann, Servi Stevens, Maria Iascone, Silvia Maitz, Benjamin Cogne, Cedric Le Caignec, Marie Vincent, Mathilde Nizon, Alison Male, Pankaj Agrawal, Michelle Thompson, Pernille Torring, Charlotte Brasch-Andersen, Laurence Faivre, Ange-Line Bruel, Bertrand Isidor, Christophe Philippe, Manuela Morleo, Monica Wojcik, Casie Genetti, Siddharth Srivastava, Sonia Ballal, Sophia Schließke, Rami Abou Jamra, Andree Delahaye, Lydia von Wintzingerode, Viktoria Bothe, Marine Houlier, Timothy Stout, Gaber Bergant, Borut Peterlin, Oana Moldovan, Núria Martínez-Gil, Emanuela Argilli, Elliott Sherr, Tamar Harel, Hallel Rosenberg-Fogler, Jill Rosenfeld, Ingrid Wentzensen, Dominik Westphal, Korbinian Riedhammer, Laura Orec, James Gusella, Bekim Sadikovic, Derek Tai, Michael Talkowski

Get full text