Bilaketaren emaitzak - Alexandra Keefe

P476: Identification of ZMIZ1-related neurodevelopmental disorder in neonates with atrioventricular septal defects: Expansion of phenotypes and implications for counseling nork Lukas Kruidenier, Alexandra Keefe, Tara Wenger

Testu osoa

P491: Mosaic double aneuploidy: A rare case of 45,X/47,XX,+18 mosaicism and review of the literature nork Teresa Campbell, Candace Myers, Cate Paschal, Alexandra Keefe

Testu osoa

P655: Performing long-read sequencing from dried blood spot cards nork Sydney Ward, Joy Goffena, Sophie Storz, Miranda Galey, Alexandra Keefe, Cate Paschal, Anna Scott, Danny Miller

Testu osoa

P014: Multiple cases of mosaic X-linked adrenoleukodystrophy in males identified through newborn screening nork Alexandra Keefe, Dana Jensen, Renee Bend, Michelle Morrow, Paul Kruszka, Lauren O'Grady, Florian Eichler, Angela Sun, James Bennett

Testu osoa

P487: Increasing access to precise genetic diagnoses for inpatients at Seattle Children’s Hospital nork Abbey Scott, Lukas Kruidenier, Megan Sikes, Anita Beck, Katrina Dipple, Margaret Adam, Ian Glass, Jennifer Hayek, James Bennett, Ghayda Mirzaa, Alexandra Keefe, Tara Wenger

Testu osoa

P193: Inpatient genetics consults for nondysmorphic children: Characteristics, testing patterns and diagnostic yield nork Alexandra Keefe, Abbey Scott, Lukas Kruidenier, Megan Sikes, Anita Beck, Katrina Dipple, Jennifer Hayek, James Bennett, Ghayda Mirzaa, Margaret Adam, Ian Glass, Tara Wenger

Testu osoa

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

Testu osoa

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

Testu osoa

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

Testu osoa

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

Testu osoa