Applying genomic analysis to newborn screening

Molecular Syndromology

Volumn 3, Issue 2, 2012, Pages 59-67

  Solomon, B D ^a,d   Pineda Alvarez, D E ^a   Bear, K A ^a,b   Mullikin, J C ^a   Evans, J P ^c  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b WALTER REED ARMY MEDICAL CENTER   (United States)

^c UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Exome sequencing; Genomic sequencing; Newborn screening; Whole exome sequencing

Indexed keywords

BIOTINIDASE; CONNEXIN 26; CONNEXIN 30; CYTOCHROME P450 1A2; DIDEOXYNUCLEOTIDE; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; MYOSIN VIIA; TRANSCRIPTION FACTOR PAX3; TRANSCRIPTION FACTOR PAX8; TRANSCRIPTION FACTOR SIX1; TRANSCRIPTION FACTOR SOX10; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DATA BASE; EXOME; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; HUMAN TISSUE; INFORMATION PROCESSING; MEDICAL RESEARCH; MICROARRAY ANALYSIS; NEWBORN; NEWBORN SCREENING; PATHOGENICITY; PRIORITY JOURNAL; PUBLICATION;

EID: 84865315760     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000341253     Document Type: Article

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