NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

Genome Research

Volumn 23, Issue 9, 2013, Pages 1395-1409

  Dittwald, Piotr ^a,b,c   Gambin, Tomasz ^a,d   Szafranski, Przemyslaw ^a   Li, Jian ^a   Amato, Stephen ^e   Divon, Michael Y ^f   Rojas, Lisa Ximena Rodríguez ^g   Elton, Lindsay E ^h   Scott, Daryl A ^a   Schaaf, Christian P ^a   Torres Martinez, Wilfredo ⁱ   Stevens, Abby K ⁱ   Rosenfeld, Jill A ^j   Agadi, Satish ^a   Francis, David ^k   Kang, Sung Hae L ^a   Breman, Amy ^a   Lalani, Seema R ^a   Bacino, Carlos A ^a   Bi, Weimin ^a   Milosavljevic, Aleksandar ^a   Beaudet, Arthur L ^a   Patel, Ankita ^a   Shaw, Chad A ^a   Lupski, James R ^a,l   Gambin, Anna ^b,m   Cheung, Sau Wai ^a   Stankiewicz, Pawel ^a   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF WARSAW   (Poland)

^c UNIVERSITY OF WARSAW   (Poland)

^d WARSAW UNIVERSITY OF TECHNOLOGY   (Poland)

^e PHOENIX CHILDREN'S HOSPITAL   (United States)

^f LENOX HILL HOSPITAL   (United States)

^g FUNDACIÓN VALLE DEL LILI   (Colombia)

^h Child Neurology Pediatric Specialty Services   (United States)

ⁱ INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j PERKINELMER INC   (United States)

^k MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^l TEXAS CHILDREN S HOSPITAL   (United States)

^m MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BUNGAROTOXIN RECEPTOR; DNA; NPHP1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q11; COPY NUMBER VARIATION; DIGEORGE SYNDROME; DNA BASE COMPOSITION; DNA SEQUENCE; GENE DUPLICATION; GENETIC DATABASE; GENETIC DISORDER; GENOME ANALYSIS; HAPLOIDY; HAPLOINSUFFICIENCY; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN GENOME; MICROARRAY ANALYSIS; NONALLELIC HOMOLOGOUS RECOMBINATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEGMENTAL DUPLICATION; VELOCARDIOFACIAL SYNDROME; WILLIAMS BEUREN SYNDROME;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALLELES; ALPHA7 NICOTINIC ACETYLCHOLINE RECEPTOR; BASE COMPOSITION; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOME DUPLICATION; DNA COPY NUMBER VARIATIONS; GENETIC DISEASES, INBORN; GENOME, HUMAN; HOMOLOGOUS RECOMBINATION; HUMANS; MEMBRANE PROTEINS; NUCLEOTIDE MOTIFS;

EID: 84883679009     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.152454.112     Document Type: Article

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