Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: Substantial interest of prospective annual reanalysis

Genetics in Medicine

Volumn 20, Issue 6, 2018, Pages 645-654

  Nambot, Sophie ^a,b,c   Thevenon, Julien ^a,b,c   Kuentz, Paul ^b,c   Duffourd, Yannis ^b,c   Tisserant, Emilie ^b,c   Bruel, Ange Line ^b,c   Mosca Boidron, Anne Laure ^b,c   Masurel Paulet, Alice ^a,b   Lehalle, Daphné ^a   Jean Marçais, Nolwenn ^a,b   Lefebvre, Mathilde ^a,b   Vabres, Pierre ^b,c   El Chehadeh Djebbar, Salima ^a   Philippe, Christophe ^b,c   Tran Mau Them, Frederic ^b,c   St Onge, Judith ^b,c   Jouan, Thibaud ^b,c   Chevarin, Martin ^b,c   Poé, Charlotte ^b,c   Carmignac, Virginie ^c   Vitobello, Antonio ^b,c   Callier, Patrick ^b,c   Rivière, Jean Baptiste ^b,c   Faivre, Laurence ^a,b,c   Thauvin Robinet, Christel ^a,b,c   more..

^a Medical University of Dijon   (France)

^b DIJON UNIVERSITY HOSPITAL   (France)

^c UNIVERSITÉ BOURGOGNE FRANCHE COMTÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; COPY NUMBER VARIATION; DIAGNOSTIC VALUE; EPILEPSY; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MENTAL DISEASE; MOLECULAR DIAGNOSIS; PHENOTYPE; RARE DISEASE; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSLATIONAL RESEARCH; WHOLE EXOME SEQUENCING; X CHROMOSOME LINKED DISORDER; CONGENITAL DISORDER; DNA SEQUENCE; EXOME; GENETIC DATABASE; GENETIC SCREENING; GENETICS; HIGH THROUGHPUT SEQUENCING; PROCEDURES;

CONGENITAL ABNORMALITIES; DATABASES, GENETIC; EXOME; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; RARE DISEASES; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; WHOLE EXOME SEQUENCING;

EID: 85047157730     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.162     Document Type: Article

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