A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

American Journal of Medical Genetics, Part A

Volumn 161, Issue 1, 2013, Pages 145-152

  Schrauwen, Isabelle ^a,b   Sommen, Manou ^a   Corneveaux, Jason J ^b   Reiman, Rebecca A ^b   Hackett, Nicole J ^b   Claes, Charlotte ^a   Claes, Kathleen ^c   Bitner Glindzicz, Maria ^d   Coucke, Paul ^c   Van Camp, Guy ^a   Huentelman, Matthew J ^b  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Deafness; Diagnostics; Hearing loss; Microdroplet PCR

Indexed keywords

CONNEXIN 26;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC KIT; DNA DETERMINATION; GENE; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENE TECHNOLOGY; GENETIC ENHANCEMENT; GENETIC IDENTIFICATION; GENETIC SCREENING; GJB2 GENE; HEARING IMPAIRMENT; HUMAN; LIGATION; MASSIVE PARALLEL SEQUENCING; MICRODROPLET POLYMERASE CHAIN REACTION; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY;

CONNEXINS; DEAFNESS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 84871704471     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35737     Document Type: Article

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