Resolution of disease phenotypes resulting from multilocus genomic variation

New England Journal of Medicine

Volumn 376, Issue 1, 2017, Pages 21-31

  Posey, Jennifer E ^a   Harel, Tamar ^a   Liu, Pengfei ^a   Rosenfeld, Jill A ^a   James, Regis A ^a   Coban Akdemir, Zeynep H ^a   Walkiewicz, Magdalena ^a   Bi, Weimin ^a   Xiao, Rui ^a   Ding, Yan ^a   Xia, Fan ^a   Beaudet, Arthur L ^a   Muzny, Donna M ^a   Gibbs, Richard A ^a   Boerwinkle, Eric ^a,b   Eng, Christine M ^a   Sutton, V Reid ^a   Shaw, Chad A ^a   Plon, Sharon E ^a,c,d   Yang, Yaping ^a   Lupski, James R ^a,c   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS   (United States)

^c Texas Children's Hospital   (United States)

^d TEXAS CHILDREN S CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; COPY NUMBER VARIATION; DISEASE ONTOLOGY; DISEASES; FEMALE; GENETIC ASSOCIATION; GENETIC VARIATION; GENOMICS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MOLECULAR DIAGNOSIS; MULTILOCUS GENOMIC VARIATION; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; WHOLE EXOME SEQUENCING; X CHROMOSOME LINKED DISORDER; DNA SEQUENCE; EXOME; GENETIC DISORDER; GENETICS; GENOTYPING TECHNIQUE; HIGH THROUGHPUT SEQUENCING; PROCEDURES;

EXOME; GENETIC DISEASES, INBORN; GENETIC VARIATION; GENOTYPING TECHNIQUES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; PHENOTYPE; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA;

EID: 85008395314     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1516767     Document Type: Article

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