Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 34, 2014, Pages 12450-12455

  Longoni, Mauro ^a,b   High, Frances A ^a,c   Russell, Meaghan K ^a,b   Kashani, Alireza ^a,d   Tracy, Adam A ^a   Coletti, Caroline M ^a   Hila, Regis ^a   Shamia, Ahmed ^a   Wells, Julie ^e   Ackerman, Kate G ^f   Wilson, Jay M ^c   Bult, Carol J ^e   Lee, Charles ^e   Lage, Kasper ^a,b,d   Pober, Barbara R ^a,c,g   Donahoe, Patricia K ^a,b,d  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

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

^e JACKSON LABORATORY   (United States)

^f UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^g Quinnipiac University   (United States)

Author keywords

CDH genetics; Diaphragm development; Network analysis

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BIOINFORMATICS; CHROMOSOME DELETION; COMPARATIVE STUDY; CONGENITAL DIAPHRAGM HERNIA; COPY NUMBER VARIATION; DIAPHRAGM; EXOME; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; INDEL MUTATION; MAJOR CLINICAL STUDY; MOLECULAR PATHOLOGY; MOUSE; NONHUMAN; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; SIGNAL TRANSDUCTION; ANIMAL; BIOLOGY; COHORT ANALYSIS; EMBRYOLOGY; GENETICS; HERNIAS, DIAPHRAGMATIC, CONGENITAL; PROTEIN PROTEIN INTERACTION;

ANIMALS; COHORT STUDIES; COMPUTATIONAL BIOLOGY; DIAPHRAGM; DNA COPY NUMBER VARIATIONS; EXOME; GENETIC VARIATION; HERNIAS, DIAPHRAGMATIC, CONGENITAL; HUMANS; MICE; PROTEIN INTERACTION MAPS;

EID: 84906658476     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1412509111     Document Type: Article

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