Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 170-176

  Athanasakis, Emmanouil ^a   Licastro, Danilo ^b   Faletra, Flavio ^a   Fabretto, Antonella ^a   Dipresa, Savina ^c   Vozzi, Diego ^a   Morgan, Anna ^d   D'Adamo, Adamo P ^c   Pecile, Vanna ^a   Biarnés, Xevi ^e   Gasparini, Paolo ^a,c  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b CBM Scrl   (Italy)

^c UNIVERSITY OF TRIESTE   (Italy)

^d Telethon Foundation   (Italy)

^e INSTITUT QUÍMIC DE SARRIÀ   (Spain)

Author keywords

De novo; Exome sequencing; Intellectual disability; KDM5B; Nonsyndromic; Plexins; Target sequencing; X linked

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CIC GENE; CLINICAL ARTICLE; COPY NUMBER VARIATION; EXOME; FEMALE; FGD1 GENE; GENE; GENE LOCATION; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE; KIAA2022 GENE; MALE; MISSENSE MUTATION; MOLECULAR MODEL; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; PLAXNA3 GENE; PLXNB3 GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME LINKAGE; ZNF41 GENE; BIOLOGY; GENETIC ASSOCIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; INTELLECTUAL DISABILITY; MUTATION; RECESSIVE GENE; WORKFLOW; X CHROMOSOMAL INHERITANCE;

COMPUTATIONAL BIOLOGY; EXOME; FEMALE; GENES, RECESSIVE; GENES, X-LINKED; GENOME-WIDE ASSOCIATION STUDY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; KARYOTYPE; MALE; MUTATION; WORKFLOW;

EID: 84890792446     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36274     Document Type: Article

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