Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

American Journal of Human Genetics

Volumn 90, Issue 4, 2012, Pages 599-613

  Itsara, Andy ^a   Vissers, Lisenka E L M ^b,c   Steinberg, Karyn Meltz ^a   Meyer, Kevin J ^d   Zody, Michael C ^e   Koolen, David A ^b,c   De Ligt, Joep ^b,c   Cuppen, Edwin ^f,g   Baker, Carl ^a   Lee, Choli ^a   Graves, Tina A ^h   Wilson, Richard K ^h   Jenkins, Robert B ^d   Veltman, Joris A ^b,c   Eichler, Evan E ^a,i  

^a UNIVERSITY OF WASHINGTON   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d MAYO CLINIC   (United States)

^e BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^f UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^g ROYAL NETHERLANDS ACADEMY OF ARTS AND SCIENCES   (Netherlands)

^h WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 17Q; CHROMOSOME 17Q21.31 MICRODELETION SYNDROME; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MAP; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; GENE SEQUENCE; GENETIC RECOMBINATION; HUMAN; HYBRID CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

BASE SEQUENCE; CHROMOSOME BREAKPOINTS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; HAPLOTYPES; HOMOLOGOUS RECOMBINATION; HUMANS; MOLECULAR SEQUENCE DATA; SEGMENTAL DUPLICATIONS, GENOMIC; SEQUENCE ANALYSIS, DNA;

EID: 84859510490     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.02.013     Document Type: Article

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