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Sweeney, Nathaly M; Nahas, Shareef A; Chowdhury, Shimul et al. (2018) The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections. Cold Spring Harb Mol Case Stud 4:
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Petrikin, Josh E; Cakici, Julie A; Clark, Michelle M et al. (2018) The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. NPJ Genom Med 3:6
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Brandler, William M; Antaki, Danny; Gujral, Madhusudan et al. (2018) Paternally inherited cis-regulatory structural variants are associated with autism. Science 360:327-331
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Alsheikh, Batool; Aljohani, Othman; Coufal, Nicole G (2018) Paediatric pulmonary hypertension caused by an ACVRL1 mutation presenting as Ortner syndrome. Cardiol Young 28:1475-1476
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Clark, Michelle M; Stark, Zornitza; Farnaes, Lauge et al. (2018) Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med 3:16
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Char, Danton S; Lázaro-Muñoz, Gabriel; Barnes, Aliessa et al. (2017) Genomic Contraindications for Heart Transplantation. Pediatrics 139:
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Farnaes, Lauge; Nahas, Shareef A; Chowdhury, Shimul et al. (2017) Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome. Cold Spring Harb Mol Case Stud 3:
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Hildreth, Amber; Wigby, Kristen; Chowdhury, Shimul et al. (2017) Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis. Cold Spring Harb Mol Case Stud 3:
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Berg, Jonathan S; Agrawal, Pankaj B; Bailey Jr, Donald B et al. (2017) Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics 139:
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Friedman, Jan M; Cornel, Martina C; Goldenberg, Aaron J et al. (2017) Genomic newborn screening: public health policy considerations and recommendations. BMC Med Genomics 10:9
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Showing the most recent 10 out of 43 publications
