The Genomic landscape of short tandem repeats across multiple ancestries von Vijayaraghavan, Prashanth, Batalov, Sergey, Ding, Yan, Sanford, Erica, Kingsmore, Stephen F, Dimmock, David, Hobbs, Charlotte, Bainbridge, Matthew

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NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry von Stanclift, Caroline R, Dwight, Selina S, Lee, Kevin, Eijkenboom, Quirine L, Wilsey, Matt, Wilsey, Kristen, Kobayashi, Erica Sanford, Tong, Sandra, Bainbridge, Matthew N

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Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning von Peterson, Bennet, Hernandez, Edgar Javier, Hobbs, Charlotte, Malone Jenkins, Sabrina, Moore, Barry, Rosales, Edwin, Zoucha, Samuel, Sanford, Erica, Bainbridge, Matthew N, Frise, Erwin, Oriol, Albert, Brunelli, Luca, Kingsmore, Stephen F, Yandell, Mark

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Approaches to long-read sequencing in a clinical setting to improve diagnostic rate von Sanford Kobayashi, Erica, Batalov, Serge, Wenger, Aaron M., Lambert, Christine, Dhillon, Harsharan, Hall, Richard J., Baybayan, Primo, Ding, Yan, Rego, Seema, Wigby, Kristen, Friedman, Jennifer, Hobbs, Charlotte, Bainbridge, Matthew N.

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Better and faster is cheaper von Sanford Kobayashi, Erica F., Dimmock, David P.

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P156: Genomic disease contribution for unknown causes of infant mortality via genome sequencing of newborn dried blood spots and semiautomated interpretation von Ontiveros, Eric, Protopsaltis, Liana, Baer, Rebecca, Bainbridge, Matthew, Cao, Bryant, Ding, Yan, Ellsworth, Katarzyna (Kasia), Forero, Laura, Frise, Erwin, Guidugli, Lucia, Kwon, YongHyun, Le, Jennie, Oltman, Scott, Owen, Mallory, Kobayashi, Erica Sanford, Van Der Kraan, Lucita, Wright, Meredith, Yandell, Mark, Jelliffe-Pawlowski, Laura, Bandoli, Gretchen, Chambers, Christina, Kingsmore, Stephen

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Penile foreskin avulsion from parrot fish bite von Kobayashi, Sow A, Sanford, Erica F, Witucki, Peter

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Hypertensive Encephalopathy Presenting as Status Epilepticus in a Three Year Old von Sanford, Erica F., BS, Stein, John C., MD

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Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit von Sanford Kobayashi, Erica, Waldman, Bryce, Engorn, Branden M, Perofsky, Katherine, Allred, Erika, Briggs, Benjamin, Gatcliffe, Chelsea, Ramchandar, Nanda, Gold, Jeffrey J, Doshi, Ami, Ingulli, Elizabeth G, Thornburg, Courtney D, Benson, Wendy, Farnaes, Lauge, Chowdhury, Shimul, Rego, Seema, Hobbs, Charlotte, Kingsmore, Stephen F, Dimmock, David P, Coufal, Nicole G

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Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system von Allred, Erika T, Perens, Elliot A, Coufal, Nicole G, Sanford Kobayashi, Erica, Kingsmore, Stephen F, Dimmock, David P

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An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm von Dimmock, David P, Clark, Michelle M, Gaughran, Mary, Cakici, Julie A, Caylor, Sara A, Clarke, Christina, Feddock, Michele, Chowdhury, Shimul, Salz, Lisa, Cheung, Cynthia, Bird, Lynne M, Hobbs, Charlotte, Wigby, Kristen, Farnaes, Lauge, Bloss, Cinnamon S, Kingsmore, Stephen F

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577: IMPACT OF RAPID WHOLE GENOME SEQUENCING IN THE PICU von Rodriguez, Katherine, Kobayashi, Erica Sanford, Coufal, Nicole, Dimmock, David, Kingsmore, Stephen

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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases von Kingsmore, Stephen F., Smith, Laurie D., Kunard, Chris M., Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P., Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C., Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Hobbs, Charlotte A., Kahn, Scott D., Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H., Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R., Oh, Danny, Owen, Mallory J., Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S., Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G., Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J., Wolen, Aaron R., Defay, Thomas

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824: ACUTE NEUROLOGIC CHANGES IN A 13-MONTH-OLD WITH A HISTORY OF NEONATAL HSV AND VARIANT IN RNF213 von Lee, Jacqueline, Kelly, Robert, Sanford Kobayashi, Erica

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Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes von Kobayashi, Erica Sanford, Lotan, Nava Shaul, Schejter, Yael Dinur, Makowski, Christine, Kraus, Verena, Ramchandar, Nanda, Meiner, Vardiella, Thiffault, Isabelle, Farrow, Emily, Cakici, Julie, Kingsmore, Stephen, Wagner, Matias, Rieber, Nikolaus, Bainbridge, Matthew

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25: A MULTICENTER COHORT ANALYSIS OF RAPID GENOME SEQUENCING IN THE PICU von Rodriguez, Katherine, Kobayashi, Erica Sanford, VanDongen-Trimmer, Heather, Salz, Lisa, Foley, Jennifer, Whalen, Drewann, Oluchukwu, Okonkwo, Liu, Kuang Chuen, Burton, Jennifer, Syngal, Prachi, Kingsmore, Stephen, Coufal, Nicole

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Novel association of congenital neutropenia with a homozygous stop-gain variant in SENP7 von Kobayashi, Erica Sanford, Ramchandar, Nanda, Teijaro, John, Cakici, Julie, Farrow, Emily, Thiffault, Isabelle, Kingsmore, Stephen, Bainbridge, Matthew

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eP351 - Novel association of congenital neutropenia with a homozygous stop-gain variant in SENP7 von Kobayashi, Erica Sanford, Ramchandar, Nanda, Teijaro, John, Cakici, Julie, Farrow, Emily, Thiffault, Isabelle, Kingsmore, Stephen, Bainbridge, Matthew

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Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial von Kingsmore, Stephen F., Wright, Meredith, Olsen, Lauren, Schultz, Brandan, Protopsaltis, Liana, Averbuj, Dan, Blincow, Eric, Carroll, Jeanne, Caylor, Sara, Defay, Thomas, Ellsworth, Katarzyna, Feigenbaum, Annette, Gover, Mia, Guidugli, Lucia, Hansen, Christian, Van Der Kraan, Lucita, Kunard, Chris M., Kwon, Hugh, Madhavrao, Lakshminarasimha, Leipzig, Jeremy, Liang, Yupu, Mardach, Rebecca, Mowrey, William R., Nguyen, Hung, Niemi, Anna-Kaisa, Oh, Danny, Saad, Muhammed, Scharer, Gunter, Schleit, Jennifer, Mehtalia, Shyamal S., Sanford, Erica, Smith, Laurie D., Willis, Mary J., Wigby, Kristen, Reimers, Rebecca

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Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection von Kingsmore, Stephen F., Wright, Meredith, Smith, Laurie D., Liang, Yupu, Mowrey, William R., Protopsaltis, Liana, Bainbridge, Matthew, Baker, Mei, Batalov, Sergey, Blincow, Eric, Cao, Bryant, Caylor, Sara, Chambers, Christina, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Hugh, Madhavrao, Lakshminarasimha, Lefebvre, Sebastien, Leipzig, Jeremy, Mardach, Rebecca, Moore, Barry, Oh, Danny, Olsen, Lauren, Ontiveros, Eric, Owen, Mallory J., Reimers, Rebecca, Scharer, Gunter, Schleit, Jennifer, Shelnutt, Seth, Mehtalia, Shyamal S., Oriol, Albert, Sanford, Erica, Schwartz, Steve, Wigby, Kristen, Willis, Mary J., Yandell, Mark, Kunard, Chris M., Defay, Thomas

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