Bohring‐Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother von Bedoukian, Emma, Copenheaver, Deborah, Bale, Sherri, Deardorff, Matthew

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P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences von Dipple, Katrina, Doherty, Daniel, Anderson, Kailyn, Sommers, Olivia, Wenger, Tara, MacDuffie, Kate, Keefe, Alexandra, Scott, Abbey, Kruidenier, Lukas, Love-Nichols, Jamie, Gildersleeve, Heidi, Davis, Chayna, Buckingham, Kati, Chong, Jessica, Veenstra, David, Miller, Danny, Copenheaver, Deborah, Juusola, Jane, Retterer, Kyle, McWalter, Kirsty, Kruszka, Paul, Yu, Joon-Ho, Bamshad, Michael

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P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates von Wenger, Tara, Keefe, Alexandra, Kruidenier, Lukas, Sikes, Megan, Scott, Abbey, Yu, Joon-Ho, MacDuffie, Kate, Anderson, Kailyn, Sommers, Olivia, Gildersleeve, Heidi, Buckingham, Kati, Chong, Jessica, Dipple, Katrina, Veenstra, David, Doherty, Dan, Miller, Daniel, Copenheaver, Deborah, Juusola, Jane, Snook, Amy, Davis, Chayna, McWalter, Kirsty, Kruszka, Paul, Bamshad, Michael

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P414: SeqFirst: Parental perspectives on receiving results from neonatal rapid whole genome sequencing von Wenger, Tara, Keefe, Alexandra, Sikes, Megan, Kruidenier, Luke, Yu, Joon-Ho, McDuffie, Kate, Sommers, Olivia, Gildersleeve, Heidi, Scott, Abbey, Davis, Chayna, Kruszka, Paul, Buckingham, Kati, Chong, Jessica, Retterer, Kyle, McWalter, Kirsty, Snook, Amy, Juusola, Jane, Copenheaver, Deborah, Veenstra, David, Miller, Danny, Dipple, Katrina, Bamshad, Michael

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P208: SeqFirst: Impact of a precise genetic diagnosis on end-of-life decision making in the NICU von Keefe, Alexandra, Wenger, Tara, Yu, Joon-Ho, Sikes, Megan, Kruidenier, Luke, Scott, Abbey, McDuffie, Kate, Sommers, Olivia, Gildersleeve, Heidi, Davis, Chayna, Kruszka, Paul, Buckingham, Kati, Chong, Jessica, Veenstra, David, Retterer, Kyle, McWalter, Kirsty, Snook, Amy, Juusola, Jane, Copenheaver, Deborah, Miller, Danny, Dipple, Katrina, Brothers, Kyle, Bamshad, Michael

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Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development von Yates, Carin L, Monaghan, Kristin G, Copenheaver, Deborah, Retterer, Kyle, Scuffins, Julie, Kucera, Cathlin R, Friedman, Bethany, Richard, Gabriele, Juusola, Jane

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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield von Gubbels, Cynthia S., VanNoy, Grace E., Madden, Jill A., Copenheaver, Deborah, Yang, Sandra, Wojcik, Monica H., Gold, Nina B., Genetti, Casie A., Stoler, Joan, Parad, Richard B., Roumiantsev, Sergei, Bodamer, Olaf, Beggs, Alan H., Juusola, Jane, Agrawal, Pankaj B., Yu, Timothy W.

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eP281: SeqFirst-neo: Improving access equity for a precise genetic diagnosis in the NICU von Wenger, Tara, Scott, Abbey, Sikes, Megan, Davis, Chayna, Buckingham, Kati, Chong, Jessica, Retterer, Kyle, Juusola, Jane, Copenheaver, Deborah, Kruszka, Paul, Dipple, Katrina, Bamshad, Michael

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Clinical utility of exome sequencing in infantile heart failure von Ritter, Alyssa, Bedoukian, Emma, Berger, Justin H., Copenheaver, Deborah, Gray, Christopher, Krantz, Ian, Izumi, Kosuke, Juusola, Jane, Leonard, Jacqueline, Lin, Kimberly, Medne, Livija, Santani, Avni, Skraban, Cara, Yang, Sandra, Ahrens-Nicklas, Rebecca C.

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