Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Nature Genetics

Volumn 38, Issue 9, 2006, Pages 1038-1042

  Sharp, Andrew J ^a   Hansen, Sierra ^a   Selzer, Rebecca R ^b   Cheng, Ze ^a   Regan, Regina ^c   Hurst, Jane A ^c   Stewart, Helen ^c   Price, Sue M ^c   Blair, Edward ^c   Hennekam, Raoul C ^d,e   Fitzpatrick, Carrie A ^f   Segraves, Rick ^g   Richmond, Todd A ^b   Guiver, Cheryl ^c   Albertson, Donna G ^g,h   Pinkel, Daniel ^g   Eis, Peggy S ^b   Schwartz, Stuart ^f   Knight, Samantha J L ^c   Eichler, Evan E ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b Roche NimbleGen Inc   (United States)

^c CHURCHILL HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

^f UNIVERSITY OF CHICAGO   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME 17Q; CHROMOSOME 1Q; CHROMOSOME BREAKAGE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DNA FLANKING REGION; DNA MICROARRAY; GENE DELETION; GENE DUPLICATION; GENE MAPPING; GENE REARRANGEMENT; GENOMIC INSTABILITY; HUMAN; HUMAN GENOME; MENTAL DEFICIENCY; PRIORITY JOURNAL;

CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 17; GENE DOSAGE; GENE DUPLICATION; GENE REARRANGEMENT; GENOME, HUMAN; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; MOSAICISM; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHYSICAL CHROMOSOME MAPPING; POLYMORPHISM, GENETIC;

EID: 33748333194     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1862     Document Type: Article

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