Article
Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.
American journal of medical genetics. Part A - 1 Jan 2021
Bamborschke Daniel, Özdemir Özkan, Kreutzer Mona, Motameny Susanne, Thiele Holger, Kribs Angela, Dötsch Jörg, Altmüller Janine, Nürnberg Peter, Cirak Sebahattin
Abstract excerpt
Genetic diseases are a major cause of neonatal morbidity and mortality. The clinical differential diagnosis in severely ill neonates, especially in premature infants, is challenging. Next generation sequencing (NGS) diagnostics is a valuable tool, but the turnaround time is often too long to provide a diagnosis in the time needed for clinical guidance in newborn intensive care units (NICU). To minimize turnaround...
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