Paul Stephen Kruszka

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

Alexandra Keefe, Abbey Scott, Lukas Kruidenier, Jessie H. Conta et autres

Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time …

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Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

Ali Hosseini Bereshneh, Kirkland Wilson, Xueyang Pan, Shabab B. Hannan et autres

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P161: Exome sequencing of 3,118 individuals with variations in sexual characteristics

Leah Ragno, Tucker Pyle, Andrea J. Cohen, Kirsty McWalter et autres

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P462: Reduction in healthcare resource utilization for children with neurodevelopmental disorders after exome or genome sequencing: A SAVES-Kids Study*

Colton Frazer, Paul Stephen Kruszka, Olaf A. Bodamer, Sarah Soto et autres

Neurodevelopmental disorders represent one of the most prevalent chronic medical conditions encountered in pediatric primary care. Establishing a molecular diagnosis through exome or genome sequencing (ES/GS) can enable more personalized clinical management. Although these management adjustments frequently influence healthcare resource utilization (HCRU) …

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P261: SeqFirst developmental differences: Early whole genome sequencing offered using broad inclusion criteria improves access to early precise genetic diagnosis

Katrina M Dipple, Dan Doherty, Kailyn Anderson, Olivia Sommerland et autres

Children with developmental delays and disability often experience a long and resource-intensive process to determine the underlying etiology of their delays, often termed the “diagnostic odyssey.” The SeqFirst Developmental Differences (SeqFirst DDi) project aims to test whether offering genome sequencing (GS) at …

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P227: Variant interpretation and reporting approaches in the GUARDIAN study of genomic newborn screening

Mehmet Buğrahan Düz, Jacob Hagen, Amber Begtrup, Jennifer Bradley et autres

Results: Re-analysis of BMP4's gene disease relationship verified that syndromic patients with developmental defects but lacking ocular anomalies are within the same disease mechanism.Additionally, isolated developmental phenotypes, such as pituitary deficiencies, orofacial clefts and dental anomalies, kidney dysplasias, and genital abnormalities, are …

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Heart

Paul Stephen Kruszka, Laura Olivieri

Malformations of the heart are the most common human birth defects. They may cause little or no functional impairment or may be life threatening. In recent decades, improved imaging using a variety of different techniques and evolving surgical techniques have made almost …