New testing guidelines for hearing loss support next-generation sequencing: Testing method may help determine genetic causes of hearing loss among patients whose phenotypes are not easily distinguished clinically

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages

  Levenson, Deborah ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; CONNEXIN 30;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL EVALUATION; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; FAMILY HISTORY; GENE; GENE SEQUENCE; GENE TARGETING; GENETIC COUNSELING; GENETIC SCREENING; GJB2 GENE; GJB6 GENE; HEARING IMPAIRMENT; HUMAN; MEDICAL HISTORY; NEXT GENERATION SEQUENCING; ONSET AGE; PRACTICE GUIDELINE; PRIORITY JOURNAL; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; GENETICS; HEARING LOSS; HIGH THROUGHPUT SEQUENCING; PHENOTYPE; PROCEDURES;

GENETIC TESTING; HEARING LOSS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; PHENOTYPE; PRACTICE GUIDELINES AS TOPIC;

EID: 84902526215     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36643     Document Type: Article

References (1)

1. Alford RL, Arnos KS, Fox M, Lin JW, Palmer GC, Pandya A, Rehm HL, Robin NH, Scott DA, Yoshinaga-Itano C. 2014. ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss, for the American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee. Guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med 16(4):347-355 PMID: 24651602.