Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Human Mutation

Volumn 35, Issue 10, 2014, Pages 1203-1210

  Makrythanasis, Periklis ^a,b   Nelis, Mari ^a,c   Santoni, Federico A ^a   Guipponi, Michel ^b   Vannier, Anne ^a   Béna, Frédérique ^b   Gimelli, Stefania ^b   Stathaki, Elisavet ^b   Temtamy, Samia ^d   Mégarbané, André ^e,f   Masri, Amira ^g   Aglan, Mona S ^d   Zaki, Maha S ^d   Bottani, Armand ^b   Fokstuen, Siv ^b   Gwanmesia, Lorraine ^b   Aliferis, Konstantinos ^b   Bustamante Eduardo, Mariana ^a   Stamoulis, Georgios ^a   Psoni, Stavroula ^h   Kitsiou Tzeli, Sofia ^h   Fryssira, Helen ^h   Kanavakis, Emmanouil ^h   Al Allawi, Nasir ⁱ   Sefiani, Abdelaziz ^j,k   Al Hait, Sana' ^l   Elalaoui, Siham C ^j   Jalkh, Nadine ^e   Al Gazali, Lihadh ^m,n   Al Jasmi, Fatma ^m,n   Bouhamed, Habiba Chaabouni ^o   Abdalla, Ebtesam ^p   Cooper, David N ^q   Hamamy, Hanan ^a   Antonarakis, Stylianos E ^a,b,r   more..

^a UNIVERSITY OF GENEVA   (Switzerland)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c UNIVERSITY OF TARTU   (Estonia)

^d NATIONAL RESEARCH CENTRE   (Egypt)

^e SAINT JOSEPH UNIVERSITY   (Lebanon)

^f Institut Jerome Lejeune   (France)

^g UNIVERSITY OF JORDAN   (Jordan)

^h UNIVERSITY OF ATHENS   (Greece)

ⁱ UNIVERSITY OF DUHOK   (Iraq)

^j INSTITUT NATIONAL D HYGIÈNE   (Morocco)

^k MOHAMMED V UNIVERSITY   (Morocco)

^l Farah Hospital   (Jordan)

^m UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

ⁿ UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^o UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^p ALEXANDRIA UNIVERSITY   (Egypt)

^q CARDIFF UNIVERSITY   (United Kingdom)

^r Institute of Genetics and Genomics of Geneva (iGE3)   (Switzerland)

more..

Author keywords

Consanguinity; Exome sequencing; High throughput sequencing; Homozygosity mapping

Indexed keywords

DENTIN MATRIX PROTEIN 1; FUKUTIN; GLYCOGEN PHOSPHORYLASE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONSANGUINEOUS MARRIAGE; CONSANGUINITY; COPY NUMBER VARIATION; DEVELOPMENTAL DELAY; DMP1 GENE; EMERY DREIFUSS MUSCULAR DYSTROPHY; FEMALE; FKTN GENE; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE; GENOTYPING TECHNIQUE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; HYPOPHOSPHATEMIC RICKETS; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MAN1B1I GENE; MOLECULAR DIAGNOSIS; MTFMT GENE; PRESCHOOL CHILD; PRX GENE; PYGM GENE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPINOCEREBELLAR DEGENERATION; SYNE1 GENE; WHOLE EXOME SEQUENCING; YOUNG ADULT; ARAB; DNA SEQUENCE; EXOME; GENETICS; INFANT; MALE; PEDIGREE; RARE DISEASES; RECESSIVE GENE;

ADOLESCENT; ADULT; ARABS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; EXOME; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; MALE; PEDIGREE; RARE DISEASES; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84908887049     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22617     Document Type: Article

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