Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Genetics in Medicine

Volumn 18, Issue 4, 2016, Pages 364-371

  Bademci, Guney ^a   Foster, Joseph ^a   Mahdieh, Nejat ^b   Bonyadi, Mortaza ^c   Duman, Duygu ^d   Cengiz, F Basak ^d   Menendez, Ibis ^a   Diaz Horta, Oscar ^a   Shirkavand, Atefeh ^e   Zeinali, Sirous ^e,f   Subasioglu, Asli ^g   Tokgoz Yilmaz, Suna ^h   Huesca Hernandez, Fabiola ⁱ   De La Luz Arenas Sordo, Maria ⁱ   Dominguez Aburto, Juan ⁱ   Hernandez Zamora, Edgar ⁱ   Montenegro, Paola ^j   Paredes, Rosario ^j   Moreta, Germania ^j   Vinueza, Rodrigo ^j   Villegas, Franklin ^j   Mendoza Benitez, Santiago ^k   Guo, Shengru ^a   Bozan, Nazim ^l   Tos, Tulay ^m   Incesulu, Armagan ⁿ   Sennaroglu, Gonca ^h   Blanton, Susan H ^a   Ozturkmen Akay, Hatice ^o   Yildirim Baylan, Muzeyyen ^p   Tekin, Mustafa ^a   more..

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b IRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c UNIVERSITY OF TABRIZ   (Iran)

^d ANKARA UNIVERSITY   (Turkey)

^e UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^f PASTEUR INSTITUTE OF IRAN   (Iran)

^g IZMIR KATIP CELEBI UNIVERSITY   (Turkey)

^h HACETTEPE UNIVERSITY   (Turkey)

ⁱ National Institute of Rehabilitation   (Mexico)

^j Molecular Genetic Lab   (Ecuador)

^k Cuernavaca General Hospital   (Mexico)

^l YUZUNCU YIL UNIVERSITY   (Turkey)

^m Dr Sami Ulus Training Hospital   (Turkey)

ⁿ ESKISEHIR OSMANGAZI UNIVERSITY   (Turkey)

^o Zeynep Kamil Maternity and Child Research and Training Hospital   (Turkey)

^p DICLE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

more..

Author keywords

autosomal recessive; deafness; exome; next generation sequencing

Indexed keywords

CADHERIN 23; IMMUNOGLOBULIN LIKE DOMAIN CONTAINING RECEPTOR 1; MEMBRANE PROTEIN; MYOSIN; MYOSIN VIIA; MYOSIN XVA; PENDRIN; PROTEINASE; TRANSMEMBRANE CHANNEL LIKE 1 PROTEIN; TRANSMEMBRANE PROTEASE SERINE 3; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; AUTOSOMAL RECESSIVE NONSYNDROMIC DEAFNESS; BIOINFORMATICS; COHORT ANALYSIS; CONSANGUINITY; ETHNICITY; EXOME; FOUNDER EFFECT; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEARING IMPAIRMENT; HOMOZYGOTE; HUMAN; INDEL MUTATION; PERCEPTION DEAFNESS; WHOLE EXOME SEQUENCING; ALLELE; DEAFNESS; ETHNIC GROUP; GENETICS; HEARING LOSS, SENSORINEURAL; HIGH THROUGHPUT SEQUENCING; MUTATION; RECESSIVE GENE;

ALLELES; COHORT STUDIES; DEAFNESS; ETHNIC GROUPS; EXOME; GENES, RECESSIVE; GENOTYPE; HEARING LOSS, SENSORINEURAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION;

EID: 84962614845     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.89     Document Type: Article

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