Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

Clinical Genetics

Volumn 93, Issue 3, 2018, Pages 567-576

  Cherot E ^a,b   Keren, B ^c,d   Dubourg, C ^b,e   Carre W ^b   Fradin, M ^a   Lavillaureix, A ^c   Afenjar, A ^c,f   Burglen, L ^f   Whalen, S ^f   Charles, P ^c,d   Marey, I ^c,d   Heide, S ^c,d   Jacquette, A ^c,d   Heron, D ^c,d   Doummar, D ^d,f   Rodriguez, D ^d,f   Billette de Villemeur, T ^f,g   Moutard, M L ^d,f   Guet A ^g   Xavier, J ^d,h   Perisse D ^h   Cohen, D ^d,h   Demurger, F ^a   Quelin C ^a   Depienne, C ^c,d   Odent, S ^a,e   Nava, C ^c,d   David, V ^b,e   Pasquier, L ^a,b   Mignot, C ^c,d   more..

^a SERVICE DE RHUMATOLOGIE   (France)

^b PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e UNIVERSITÉ DE RENNES 1   (France)

^f ARMAND TROUSSEAU HOSPITAL   (France)

^g HÔPITAL LOUIS MOURIER   (France)

^h ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

autism; intellectual disability; medical exome; molecular strategy

Indexed keywords

ARTICLE; AUTISM; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; DEGENERATIVE DISEASE; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; FEMALE; GENE DELETION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; SANGER SEQUENCING; WHOLE EXOME SEQUENCING; X CHROMOSOMAL INHERITANCE; Y CHROMOSOMAL INHERITANCE; ADOLESCENT; ADULT; ALLELE; BIOLOGY; CHILD; DNA SEQUENCE; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; INFANT; INHERITANCE; MENTAL DISEASE; MIDDLE AGED; PRESCHOOL CHILD; PROCEDURES; YOUNG ADULT;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; COMPUTATIONAL BIOLOGY; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INHERITANCE PATTERNS; MALE; MIDDLE AGED; NEURODEVELOPMENTAL DISORDERS; PHENOTYPE; SEQUENCE ANALYSIS, DNA; WHOLE EXOME SEQUENCING; YOUNG ADULT;

EID: 85042550191     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.13102     Document Type: Article

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