Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

European Journal of Human Genetics

Volumn 22, Issue 5, 2014, Pages 652-659

  Vergult, Sarah ^a   Van Binsbergen, Ellen ^b   Sante, Tom ^a   Nowak, Silke ^a   Vanakker, Olivier ^a   Claes, Kathleen ^a   Poppe, Bruce ^a   Van Der Aa, Nathalie ^c   Van Roosmalen, Markus J ^b   Duran, Karen ^b   Tavakoli Yaraki, Masoumeh ^b   Swinkels, Marielle ^b   Van Den Boogaard, Marie José ^b   Van Haelst, Mieke ^b   Roelens, Filip ^d   Speleman, Frank ^a   Cuppen, Edwin ^b   Mortier, Geert ^a,c   Kloosterman, Wigard P ^b   Menten, Björn ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d Heilig Hart Ziekenhuis   (Belgium)

Author keywords

array CGH; intellectual disability; mate pair sequencing; structural variation

Indexed keywords

ARTICLE; CHROMOSOME ABERRATION; CLINICAL ARTICLE; CLUSTER ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DIAGNOSTIC VALUE; GENE IDENTIFICATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; HUMAN GENOME; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MATE PAIR SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; ABNORMALITIES, MULTIPLE; BIOLOGY; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME BANDING PATTERN; CHROMOSOME DUPLICATION; FEMALE; GENETIC RECOMBINATION; GENETICS; HIGH THROUGHPUT SEQUENCING; INTELLECTUAL DISABILITY; KARYOTYPE; MALE;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 21; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTATIONAL BIOLOGY; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; KARYOTYPE; MALE; RECOMBINATION, GENETIC;

EID: 84898784761     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.220     Document Type: Article

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