首页> Clinical genetics> Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.

Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.

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第一作者： Brittany T,Truong

第一单位： Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado.

作者： Brittany T,Truong ^[1] ; Talitha K L,Yarza ^[2] ; Tori,Bootpetch Roberts ^[3] ; Susannah,Roberts ^[3] ; Jonathan,Xu ^[3] ; Matthew J,Steritz ^[3] ; Celina A M,Tobias-Grasso ^[4] ; Mahshid,Azamian ^[5] ; Seema R,Lalani ^[5] ; Karen L,Mohlke ^[6] ; Nanette R,Lee ^[7] ; Eva Maria,Cutiongco-de la Paz ^[8] ; Maria Rina T,Reyes-Quintos ^[9] ; Regie Lyn P,Santos-Cortez ^[10] ; Charlotte M,Chiong ^[11]

作者单位： Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado. ^[1] Philippine National Ear Institute, University of the Philippines (UP) Manila-National Institutes of Health (NIH), Manila, Philippines.;Newborn Hearing Screening Reference Center, UP Manila-NIH, Manila, Philippines. ^[2] Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado. ^[3] MED-EL, Innsbruck, Austria. ^[4] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. ^[5] Department of Genetics, University of North Carolina, Chapel Hill, North Carolina. ^[6] Office of Population Studies Foundation and Department of Anthropology, Sociology and History, University of San Carlos, Cebu, Philippines. ^[7] UP Manila-NIH, Manila 1000, Philippines.;Philippine Genome Center, Quezon City, Philippines. ^[8] Philippine National Ear Institute, University of the Philippines (UP) Manila-National Institutes of Health (NIH), Manila, Philippines.;Newborn Hearing Screening Reference Center, UP Manila-NIH, Manila, Philippines.;UP Manila-NIH, Manila 1000, Philippines.;Department of Otorhinolaryngology, UP Manila College of Medicine-Philippine General Hospital, Manila, Philippines. ^[9] Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado.;Philippine National Ear Institute, University of the Philippines (UP) Manila-National Institutes of Health (NIH), Manila, Philippines.;Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado. ^[10] Philippine National Ear Institute, University of the Philippines (UP) Manila-National Institutes of Health (NIH), Manila, Philippines.;Newborn Hearing Screening Reference Center, UP Manila-NIH, Manila, Philippines.;Department of Otorhinolaryngology, UP Manila College of Medicine-Philippine General Hospital, Manila, Philippines. ^[11]

医学主题词成年人(Adult);等位基因(Alleles);儿童(Child);耳蜗植入物(Cochlear Implants);听觉丧失(Hearing Loss);人类(Humans);突变(Mutation);菲律宾(Philippines)

DOI 10.1111/cge.13515

PMID 30828794

发布时间 2022-12-07

基金项目

P30 ES010126/ES/NIEHS NIH HHS/United States P20 RR020649/RR/NCRR NIH HHS/United States R01 TW005596/TW/FIC NIH HHS/United States R01 HL085144/HL/NHLBI NIH HHS/United States P30 DK056350/DK/NIDDK NIH HHS/United States R01 TW008288/TW/FIC NIH HHS/United States R01 DK078150/DK/NIDDK NIH HHS/United States

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