Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

Summary Background Genetic disorders and congenital anomalies are the leading causes of infant mortality. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units (NICU and PICU) is not sufficiently timely to guide acute clinical management. We used rapid whole-genome seque...

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Veröffentlicht in:	The lancet respiratory medicine 2015-05, Vol.3 (5), p.377-387
Hauptverfasser:	Willig, Laurel K, MD, Petrikin, Josh E, MD, Smith, Laurie D, MD, Saunders, Carol J, PhD, Thiffault, Isabelle, PhD, Miller, Neil A, BA, Soden, Sarah E, MD, Cakici, Julie A, BSN, Herd, Suzanne M, CCRC, Twist, Greyson, MS, Noll, Aaron, MS, Creed, Mitchell, MA, Alba, Patria M, MD, Carpenter, Shannon L, MD, Clements, Mark A, MD, Fischer, Ryan T, MD, Hays, J Allyson, MD, Kilbride, Howard, Prof, McDonough, Ryan J, DO, Rosterman, Jamie L, DO, Tsai, Sarah L, MD, Zellmer, Lee, MS, Farrow, Emily G, PhD, Kingsmore, Stephen F, Prof
Format:	Artikel
Sprache:	eng
Schlagworte:	Critical Illness Female Genome-Wide Association Study - methods Genome-Wide Association Study - statistics & numerical data Humans Infant Infant, Newborn Intensive Care Units, Neonatal Male Pneumonia, Aspiration - genetics Pulmonary/Respiratory Retrospective Studies
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