Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations

Human Mutation

Volumn 36, Issue 8, 2015, Pages 797-807

  Chung, Jonathan H ^a   Cai, Jinlu ^b   Suskin, Barrie G ^c   Zhang, Zhengdong ^a   Coleman, Karlene ^d   Morrow, Bernice E ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c MONTEFIORE MEDICAL CENTER   (United States)

^d Children's Healthcare of Atlanta at Egleston   (United States)

Author keywords

22q11.2 deletion syndrome; Integrative analysis; Juvenile rheumatoid arthritis; Schizophrenia psychosis; Tetralogy of Fallot

Indexed keywords

ADNP2 PROTEIN; CATECHOL METHYLTRANSFERASE; DNA; MEMBRANE PROTEIN; PROLINE DEHYDROGENASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANXIETY; ARTICLE; CASE REPORT; CHROMOSOME DELETION 22Q11; COGNITIVE DEFECT; CONGENITAL HEART DISEASE; FALLOT TETRALOGY; FEMALE; GENE INSERTION; GENE SEQUENCE; GENETIC PARAMETERS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; JUVENILE RHEUMATOID ARTHRITIS; MALE; PRIORITY JOURNAL; PSYCHOSIS; SINGLE NUCLEOTIDE VARIANT; CHROMOSOME 22; DIGEORGE SYNDROME; DNA SEQUENCE; GENETIC ASSOCIATION STUDY; GENETICS; HUMAN GENOME; PEDIGREE;

ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; FEMALE; GENETIC ASSOCIATION STUDIES; GENOME, HUMAN; HUMANS; MALE; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 84937727974     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22814     Document Type: Article

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