Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Genome Research

Volumn 23, Issue 2, 2013, Pages 236-247

  Abu Safieh, Leen ^a   Alrashed, May ^a,c   Anazi, Shamsa ^b   Alkuraya, Hisham ^a,d   Khan, Arif O ^e   Al Owain, Mohammed ^a,f   Al Zahrani, Jawahir ^a   Al Abdi, Lama ^a   Hashem, Mais ^a   Al Tarimi, Salwa ^a   Sebai, Mohammed Adeeb ^a   Shamia, Ahmed ^a   Ray Zack, Mohamed D ^a   Nassan, Malik ^a   Al Hassnan, Zuhair N ^a,f   Rahbeeni, Zuhair ^f   Waheeb, Saad ^a,g   Alkharashi, Abdullah ^h   Abboud, Emad ^e   Al Hazzaa, Selwa A F ^a,f   Alkuraya, Fowzan S ^a,f,i   more..

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

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

^d AL IMAM MOHAMMAD IBN SAUD ISLAMIC UNIVERSITY IMSIU   (Saudi Arabia)

^e KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^f ALFAISAL UNIVERSITY   (Saudi Arabia)

^g KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^h KING SAUD UNIVERSITY   (Saudi Arabia)

ⁱ KING KHALID UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOZYGOME GUIDED EXOME SEQUENCING; COHORT ANALYSIS; EXOME; GENE SEQUENCE; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RETINA DYSTROPHY; TURNAROUND TIME;

EXOME; FAMILY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MUTATION; PHENOTYPE; RETINAL DYSTROPHIES; SEQUENCE ANALYSIS, DNA;

EID: 84873377444     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.144105.112     Document Type: Article

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