Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees
2019; Wiley; Volume: 95; Issue: 5 Linguagem: Inglês
10.1111/cge.13515
ISSN1399-0004
AutoresBrittany T. Truong, Talitha Karisse L. Yarza, Tori Bootpetch Roberts, Susannah Roberts, Jonathan Xu, Matthew J. Steritz, Celina Ann M. Tobias-Grasso, Mahshid S. Azamian, Seema R. Lalani, Karen L. Mohlke, Sang Lee, Eva Maria Cutiongco‐de la Paz, Maria Rina T. Reyes‐Quintos, Regie Lyn P. Santos‐Cortez, Charlotte M. Chiong,
Tópico(s)RNA and protein synthesis mechanisms
ResumoClinical GeneticsVolume 95, Issue 5 p. 634-636 LETTER TO THE EDITOR Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees Brittany T. Truong, Brittany T. Truong Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, ColoradoSearch for more papers by this authorTalitha K.L. Yarza, Talitha K.L. Yarza 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, PhilippinesSearch for more papers by this authorTori Bootpetch Roberts, Tori Bootpetch Roberts Department of Otolaryngology, University of Colorado School of Medicine, Aurora, ColoradoSearch for more papers by this authorSusannah Roberts, Susannah Roberts Department of Otolaryngology, University of Colorado School of Medicine, Aurora, ColoradoSearch for more papers by this authorJonathan Xu, Jonathan Xu Department of Otolaryngology, University of Colorado School of Medicine, Aurora, ColoradoSearch for more papers by this authorMatthew J. Steritz, Matthew J. Steritz Department of Otolaryngology, University of Colorado School of Medicine, Aurora, ColoradoSearch for more papers by this authorCelina A.M. Tobias-Grasso, Celina A.M. Tobias-Grasso MED-EL, Innsbruck, AustriaSearch for more papers by this authorMahshid Azamian, Mahshid Azamian Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorSeema R. Lalani, Seema R. Lalani Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorKaren L. Mohlke, Karen L. Mohlke Department of Genetics, University of North Carolina, Chapel Hill, North CarolinaSearch for more papers by this authorNanette R. Lee, Nanette R. Lee Office of Population Studies Foundation and Department of Anthropology, Sociology and History, University of San Carlos, Cebu, PhilippinesSearch for more papers by this authorEva Maria Cutiongco-de la Paz, Eva Maria Cutiongco-de la Paz UP Manila-NIH, Manila 1000, Philippines Philippine Genome Center, Quezon City, PhilippinesSearch for more papers by this authorMaria Rina T. Reyes-Quintos, Maria Rina T. Reyes-Quintos 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, PhilippinesSearch for more papers by this authorRegie Lyn P. Santos-Cortez, Corresponding Author Regie Lyn P. Santos-Cortez regie.santos-cortez@ucdenver.edu orcid.org/0000-0002-9958-2535 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 Correspondence Charlotte Chiong, Dean's Office, UP Manila College of Medicine, Pedro Gil St., Manila 1000, Philippines. Email: cmchiong@up.edu.ph Regie Santos-Cortez, 12700 E, 19th Avenue, MS 8606, Aurora 80045, Colorado. Email: regie.santos-cortez@ucdenver.eduSearch for more papers by this authorCharlotte M. Chiong, Corresponding Author Charlotte M. Chiong cmchiong@up.edu.ph orcid.org/0000-0003-4503-9390 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 Correspondence Charlotte Chiong, Dean's Office, UP Manila College of Medicine, Pedro Gil St., Manila 1000, Philippines. Email: cmchiong@up.edu.ph Regie Santos-Cortez, 12700 E, 19th Avenue, MS 8606, Aurora 80045, Colorado. Email: regie.santos-cortez@ucdenver.eduSearch for more papers by this author Brittany T. Truong, Brittany T. Truong Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, ColoradoSearch for more papers by this authorTalitha K.L. Yarza, Talitha K.L. Yarza 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, PhilippinesSearch for more papers by this authorTori Bootpetch Roberts, Tori Bootpetch Roberts Department of Otolaryngology, University of Colorado School of Medicine, Aurora, ColoradoSearch for more papers by this authorSusannah Roberts, Susannah Roberts Department of Otolaryngology, University of Colorado School of Medicine, Aurora, ColoradoSearch for more papers by this authorJonathan Xu, Jonathan Xu Department of Otolaryngology, University of Colorado School of Medicine, Aurora, ColoradoSearch for more papers by this authorMatthew J. Steritz, Matthew J. Steritz Department of Otolaryngology, University of Colorado School of Medicine, Aurora, ColoradoSearch for more papers by this authorCelina A.M. Tobias-Grasso, Celina A.M. Tobias-Grasso MED-EL, Innsbruck, AustriaSearch for more papers by this authorMahshid Azamian, Mahshid Azamian Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorSeema R. Lalani, Seema R. Lalani Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TexasSearch for more papers by this authorKaren L. Mohlke, Karen L. Mohlke Department of Genetics, University of North Carolina, Chapel Hill, North CarolinaSearch for more papers by this authorNanette R. Lee, Nanette R. Lee Office of Population Studies Foundation and Department of Anthropology, Sociology and History, University of San Carlos, Cebu, PhilippinesSearch for more papers by this authorEva Maria Cutiongco-de la Paz, Eva Maria Cutiongco-de la Paz UP Manila-NIH, Manila 1000, Philippines Philippine Genome Center, Quezon City, PhilippinesSearch for more papers by this authorMaria Rina T. Reyes-Quintos, Maria Rina T. Reyes-Quintos 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, PhilippinesSearch for more papers by this authorRegie Lyn P. Santos-Cortez, Corresponding Author Regie Lyn P. Santos-Cortez regie.santos-cortez@ucdenver.edu orcid.org/0000-0002-9958-2535 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 Correspondence Charlotte Chiong, Dean's Office, UP Manila College of Medicine, Pedro Gil St., Manila 1000, Philippines. Email: cmchiong@up.edu.ph Regie Santos-Cortez, 12700 E, 19th Avenue, MS 8606, Aurora 80045, Colorado. Email: regie.santos-cortez@ucdenver.eduSearch for more papers by this authorCharlotte M. Chiong, Corresponding Author Charlotte M. Chiong cmchiong@up.edu.ph orcid.org/0000-0003-4503-9390 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 Correspondence Charlotte Chiong, Dean's Office, UP Manila College of Medicine, Pedro Gil St., Manila 1000, Philippines. Email: cmchiong@up.edu.ph Regie Santos-Cortez, 12700 E, 19th Avenue, MS 8606, Aurora 80045, Colorado. Email: regie.santos-cortez@ucdenver.eduSearch for more papers by this author First published: 04 March 2019 https://doi.org/10.1111/cge.13515Citations: 7 Funding information Philippine Council for Health Research and Development - Department of Science and Technology, Grant/Award Number: FP150010; University of the Philippines Manila-National Institutes of Health, Grant/Award Number: 2008-005 Peer Review The peer review history for this article is available at https://publons.com/publon/10.1111/cge.13515/ Data Availability Statement: ClinVar accession numbers pending. 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