High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

Human Genetics

Volumn 134, Issue 9, 2015, Pages 967-980

  Yavarna, Tarunashree ^a   Al Dewik, Nader ^a   Al Mureikhi, Mariam ^a   Ali, Rehab ^a   Al Mesaifri, Fatma ^a   Mahmoud, Laila ^a   Shahbeck, Noora ^a   Lakhani, Shenela ^a   AlMulla, Mariam ^a   Nawaz, Zafar ^a   Vitazka, Patrik ^b   Alkuraya, Fowzan S ^c,d   Ben Omran, Tawfeg ^a,e  

^a HAMAD MEDICAL CORPORATION   (Qatar)

^b GENEDX   (United States)

^c KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

^e WEILL CORNELL MEDICAL COLLEGE   (Qatar)

Author keywords

[No Author keywords available]

Indexed keywords

MELANOMA ANTIGEN 4; NEUROGENIN 1;

ADOLESCENT; ARTICLE; AUTISM; AUTOSOMAL DOMINANT INHERITANCE; BRAIN MALFORMATION; CHILD; CLINICAL EXOME SEQUENCING; COGNITIVE DEFECT; COHORT ANALYSIS; COL15A1 GENE; CONSANGUINITY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; EPILEPSY; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC PROCEDURES; GJA9 GENE; GLG1 GENE; HUMAN; INCIDENTAL FINDING; INFANT; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MANF GENE; MICROCEPHALY; NEUROCOGNITIVE DISORDER; NEUROLOGIC DISEASE; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SLC35F5 GENE; ADULT; ARAB; DEVELOPMENTAL DISABILITIES; DNA SEQUENCE; EXOME; GENETIC SCREENING; GENETICS; GENOMICS; INTELLECTUAL DISABILITY; MIDDLE AGED; PRESCHOOL CHILD; PROCEDURES; QATAR; YOUNG ADULT;

ADOLESCENT; ADULT; ARABS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; EPILEPSY; EXOME; FEMALE; GENETIC TESTING; GENOMICS; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MIDDLE AGED; PHENOTYPE; QATAR; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84938993182     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-015-1575-0     Document Type: Article

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