Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis

[1]  Fan Xia,et al.  Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management , 2017, JAMA pediatrics.

[2]  K. Boycott,et al.  Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort , 2017, American journal of medical genetics. Part A.

[3]  K. Helbig,et al.  Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications , 2017, Human mutation.

[4]  Sitao Wu,et al.  Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases , 2016, Genetics in Medicine.

[5]  D. Witte,et al.  Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules. , 2016, Human pathology.

[6]  Laurie D. Smith,et al.  Rapid whole genome sequencing and precision neonatology. , 2015, Seminars in perinatology.

[7]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[8]  Gabor T. Marth,et al.  A global reference for human genetic variation , 2015, Nature.

[9]  B. Fernandez,et al.  Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care , 2015, Clinical genetics.

[10]  K. Kochanek,et al.  Annual Summary of Vital Statistics: 2012–2013 , 2015, Pediatrics.

[11]  Laurie D. Smith,et al.  Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. , 2015, The Lancet. Respiratory medicine.

[12]  Xiang Li,et al.  Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions , 2014, Genetics in Medicine.

[13]  C. Benito,et al.  A prenatal presentation of severe microcephaly and brain anomalies in a patient with novel compound heterozygous mutations in the STIL gene found postnatally with exome analysis. , 2014, Pediatric neurology.

[14]  P. Bork,et al.  A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[15]  M. Wegner,et al.  The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors , 2006, Nucleic acids research.

[16]  A. Munnich,et al.  Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. , 2000, American journal of human genetics.

[17]  S. Henikoff,et al.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.