Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

Genome Research

Volumn 21, Issue 10, 2011, Pages 1720-1727

  Sobreira, Nara L M ^a,b   Gnanakkan, Veena ^a,b   Walsh, Michael ^a   Marosy, Beth ^a   Wohler, Elizabeth ^c   Thomas, George ^a,c   Hoover Fong, Julie E ^a,d   Hamosh, Ada ^a   Wheelan, Sarah J ^a   Valle, David ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Predoctoral Training Program in Human Genetics   (United States)

^c KENNEDY KRIEGER INSTITUTE   (United States)

^d Greenberg Center for Skeletal Dysplasias   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR RUNX2; TRANSCRIPTION FACTOR SOX9;

ARTICLE; CAMPOMELIC DYSPLASIA; CASE REPORT; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DISRUPTION; GENE DUPLICATION; GENE INSERTION; GENE SEQUENCE; GENE TRANSLOCATION; GENOTYPE; HUMAN; KARYOTYPE; MOLECULAR CLONING; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BASE SEQUENCE; CAMPOMELIC DYSPLASIA; CHROMOSOME BREAKPOINTS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; CRANIOFACIAL ABNORMALITIES; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; SOX9 TRANSCRIPTION FACTOR; TRANSLOCATION, GENETIC;

EID: 80053551844     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.122986.111     Document Type: Article

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