Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

BMC Medical Genomics

Volumn 9, Issue 1, 2016, Pages

  Charng, Wu Lin ^a,b   Karaca, Ender ^a,b   Coban Akdemir, Zeynep ^a,b   Gambin, Tomasz ^a,b   Atik, Mehmed M ^a,b   Gu, Shen ^a,b   Posey, Jennifer E ^a,b   Jhangiani, Shalini N ^a,b   Muzny, Donna M ^a,b   Doddapaneni, Harsha ^a,b   Hu, Jianhong ^a,b   Boerwinkle, Eric ^a,c   Gibbs, Richard A ^a,b   Rosenfeld, Jill A ^a,d   Cui, Hong ^a,d   Xia, Fan ^a,d   Manickam, Kandamurugu ^e   Yang, Yaping ^a,d   Faqeih, Eissa A ^f   Al Asmari, Ali ^f   Saleh, Mohammed A M ^f   El Hattab, Ayman W ^g   Lupski, James R ^a,b,h   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Centers for Mendelian Genomics   (United States)

^c UNIVERSITY OF TEXAS   (United States)

^d BAYLOR GENETICS   (United States)

^e NATIONWIDE CHILDREN S HOSPITAL   (United States)

^f KING FAHAD MEDICAL CITY   (Saudi Arabia)

^g TAWAM HOSPITAL   (United Arab Emirates)

^h TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Copy Number Variants (CNV); Developmental Delay Intellectual Disability (DD ID); GRM7; Neurodevelopment; Whole exome sequencing (WES)

Indexed keywords

ARAB; ARTICLE; BRAIN MALFORMATION; CLINICAL ARTICLE; COMPUTER MODEL; CONSANGUINITY; CONTROLLED STUDY; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; EXOME; FAMILY; FEMALE; FOXP4 GENE; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC DATABASE; GRM7 GENE; HETEROZYGOSITY LOSS; HUMAN; INTELLECTUAL IMPAIRMENT; KDM2B GENE; KIF5B GENE; MALE; MLLT1 GENE; MOLECULAR DIAGNOSIS; NEUROLOGIC DISEASE; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; SAUDI ARABIA; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; COHORT ANALYSIS; DATA MINING; DNA SEQUENCE; GENETICS; HIGH THROUGHPUT SEQUENCING; NERVOUS SYSTEM DISEASES; PEDIGREE;

ARABS; COHORT STUDIES; CONSANGUINITY; DATA MINING; DATABASES, GENETIC; DNA COPY NUMBER VARIATIONS; EXOME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; NERVOUS SYSTEM DISEASES; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84978477192     PISSN: None     EISSN: 17558794     Source Type: Journal    
DOI: 10.1186/s12920-016-0208-3     Document Type: Article

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