Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

Molecular Psychiatry

Volumn 22, Issue 4, 2017, Pages 615-624

  Anazi, S ^a   Maddirevula, S ^a   Faqeih, E ^b   Alsedairy, H ^a   Alzahrani, F ^a   Shamseldin, H E ^a   Patel, N ^a   Hashem, M ^a   Ibrahim, N ^a   Abdulwahab, F ^a   Ewida, N ^a   Alsaif, H S ^a   Al Sharif, H ^a   Alamoudi, W ^a   Kentab, A ^c   Bashiri, F A ^c   Alnaser, M ^c   Alwadei, A H ^b   Alfadhel, M ^d   Eyaid, W ^d   Hashem, A ^e   Al Asmari, A ^b   Saleh, M M ^b   Alsaman, A ^b   Alhasan, K A ^c   Alsughayir, M ^c   Al Shammari, M ^c   Mahmoud, A ^b   Al Hassnan, Z N ^a   Al Husain, M ^c   Osama Khalil, R ^f,g   Abd Elmeguid, N ^g   Masri, A ^j   Ali, R ^k   Ben Omran, T ^k   Elfishway, P ^h   Hashish, A ^g   Ercan Sencicek, A ^h   State, M ^f   Alazami, A M ^a   Salih, M A ^c   Altassan, N ^a   Arold, S T ⁱ   Abouelhoda, M ^a   Wakil, S M ^a   Monies, D ^a   Shaheen, R ^a   Alkuraya, F S ^a,l   more..

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

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

^d KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^e Prince Sultan Military Medical City   (Saudi Arabia)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g NATIONAL RESEARCH CENTRE   (Egypt)

^h YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ KING ABDULLAH UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Saudi Arabia)

^j UNIVERSITY OF JORDAN   (Jordan)

^k HAMAD MEDICAL CORPORATION   (Qatar)

^l ALFAISAL UNIVERSITY   (Saudi Arabia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AP3B2 GENE; ARFGEF3 GENE; ARHGAP33 GENE; ARTICLE; ATOH1 GENE; BTN3A2 GENE; C16ORF90 GENE; CAPS2 GENE; CDH11 GENE; CHILD; CONTROLLED STUDY; COPY NUMBER VARIATION; CPNE6 GENE; DENND5A GENE; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; DNHD1 GENE; DOMINANT GENE; FAM160B1 GENE; FEMALE; FEZF2 GENE; GENE; GENOME ANALYSIS; HIRA GENE; HOMOZYGOSITY; HUMAN; HYPERMAGNESEMIA; INTELLECTUAL IMPAIRMENT; INTERMETHOD COMPARISON; KARYOTYPING; KLHL24 GENE; MAJOR CLINICAL STUDY; MALE; MAMDC2 GENE; NEMF GENE; NERVE DEGENERATION; NUDT2 GENE; PATHOGENESIS; PHENOTYPE; PIANP GENE; PIP5K1A GENE; PLK2 GENE; POINT MUTATION; PROCA1 GENE; PROSPECTIVE STUDY; QRFPR GENE; RECESSIVE GENE; RGL1 GENE; SENSITIVITY AND SPECIFICITY; SLC39A14 GENE; SLC45A1 GENE; SYDE2 GENE; TADA1 GENE; TP53TG5 GENE; TRERF1 GENE; TUBAL3 GENE; UBE4A GENE; UFC1 GENE; USP2 GENE; WHOLE EXOME SEQUENCING; ZMYM5 GENE; ADULT; COHORT ANALYSIS; DNA SEQUENCE; EXOME; GENETICS; GENOMICS; INTELLECTUAL DISABILITY; METABOLISM; MUTATION; PRESCHOOL CHILD; PROCEDURES; YOUNG ADULT;

ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA COPY NUMBER VARIATIONS; EXOME; FEMALE; GENOMICS; HUMANS; INTELLECTUAL DISABILITY; KARYOTYPING; MALE; MUTATION; PROSPECTIVE STUDIES; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84978664186     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2016.113     Document Type: Article

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