Marching towards personalized genomic medicine

Journal of Pediatrics

Volumn 162, Issue 1, 2013, Pages 10-11

  Hegde, Madhuri R ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Next Generation Sequencing; NGS

Indexed keywords

CUL7 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

CASE REPORT; EDITORIAL; EXOME; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOMICS; GROWTH DISORDER; HOMOZYGOTE; HUMAN; KARYOTYPING; MICROARRAY ANALYSIS; PERSONALIZED MEDICINE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CULLIN PROTEINS; DWARFISM; EXOME; FRAMESHIFT MUTATION; GROWTH DISORDERS; HUMANS; MALE; MUSCLE HYPOTONIA; SEQUENCE ANALYSIS, DNA; SPINE;

EID: 84871398254     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2012.09.046     Document Type: Editorial

References (4)

1. J.-N. Foo, J.-J. Liu, and K. Tan E- Whole-genome and whole-exome sequencing in neurological diseases Nat Rev Neurol 8 2012 508 517
2. A. Dauber, J. Stoler, E. Hechter, J. Safer, and J.N. Hirschborn Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder J Pediatr 162 2012 202 204
3. M.P. Bali, J.V. Thakuria, A.W. Zaranek, T. Clegg, A.M. Rosenbaum, and X. Wu A public resource facilitating clinical use of genomes Proc Natl Acad Sci USA 109 2012 11920 11927
4. D.W. Bianchi From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges Nat Med 18 2012 1041 1051