Genome sequencing and analysis of an emergent SARS-CoV-2 variant characterized by multiple spike protein mutations detected from the Central Visayas Region of the Philippines

Autor: Jaime C. Montoya, Carlo M. Lapid, Hao Rnm, Magalang Jar, Tambaoan Cfb, Araiza Smm, Maria Rosario Singh-Vergeire, Yap Jmc, Cynthia P. Saloma, Cruz Rps, Devon Ray Pacial, Ayes Mec, Asin Ica, Morado Ekd, John Q. Wong, Marissa M. Alejandria, Anna Ong-Lim, Castro Mjr, Kenneth M. Kim, Benedict A. Maralit, Celia Carlos, Edsel Maurice Salvana, De Guzman Ar, Arianne A. Zamora, Yangzon Msl, Padilla Ksar, Chong Alu, Kris P. Punayan, Francis A. Tablizo, Cutiongco-de la Paz Em, Jo-Hannah S. Llames, Dizon Jga

The emergence of SARS-CoV-2 variants of concern such as the B.1.1.7, B.1.351 and the P.1 have prompted calls for governments worldwide to increase their genomic biosurveillance efforts. Globally, quarantine and outbreak management measures have been

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f5afeaff3346eecb9b85a19036c314bc
https://doi.org/10.1101/2021.03.03.21252812

Genomic variants associated with type 2 diabetes mellitus among Filipinos.

Autor: C Cutiongco-de la Paz EM; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Philippine Genome Center, University of the Philippines, Manila, Philippines., Nevado JB Jr; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Paz-Pacheco ET; Department of Medicine, Division of Endocrinology, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines., Jasul GV Jr; Department of Medicine, Division of Endocrinology, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines., Aman AYCL; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Francisco MDG; Department of Medicine, Division of Endocrinology, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.

Publikováno v: PloS one [PLoS One] 2024 Nov 19; Vol. 19 (11), pp. e0312291. Date of Electronic Publication: 2024 Nov 19 (Print Publication: 2024).

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.

Autor: Sciascia S; Center of Excellence on Nephrologic, Rheumatologic and Rare Diseases (ERK-Net, ERN-Reconnect and RITA-ERN Member) With Nephrology and Dialysis Unit, San Giovanni Bosco Hub Hospital, ASL Città di Torino and University of Turin, Turin, Italy., Roccatello D; Center of Excellence on Nephrologic, Rheumatologic and Rare Diseases (ERK-Net, ERN-Reconnect and RITA-ERN Member) With Nephrology and Dialysis Unit, San Giovanni Bosco Hub Hospital, ASL Città di Torino and University of Turin, Turin, Italy., Salvatore M; National Center for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy., Carta C; National Center for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy., Cellai LL; National Center for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy., Ferrari G; National Center for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy., Lumaka A; Reference Center for Rare and Undiagnosed Diseases, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Service de Génétique Humaine, University Hospitals of Liège, Liège, Belgium., Groft S; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, United States., Alanay Y; ACURARE-Rare and Undiagnosed Diseases Center, Acibadem University, Istanbul, Türkiye., Azam M; COMSATS University Islamabad, Islamabad, Pakistan., Baynam G; Rare Care, Clinical Center of Expertise for Rare and Undiagnosed Diseases, Perth Children's Hospital, Perth, WA, Australia., Cederroth H; Wilhelm Foundation, Stockholm, Sweden., Cutiongco-de la Paz EM; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Dissanayake VHW; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Giugliani R; House of Rares, Medical Genetics Service, HCPA, Department Genetics UFRGS and DASA, Porto Alegre, Brazil., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Universidad Nacional Autonoma de Mexico, Juriquilla, Queretaro, Mexico., Hettiarachchi D; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Kvlividze O; Georgian Foundation for Genetic and Rare Diseases (GeRaD), School of Medicine, New Vision University, Tbilisi, Georgia., Landoure G; Faculté de Médecine et d'Odontostomatologie, l'Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, Mali., Makay P; Reference Center for Rare and Undiagnosed Diseases, University of Kinshasa, Kinshasa, Democratic Republic of Congo., Melegh B; Department of Medical Genetics, School of Medicine, University of Pécs, Pécs, Hungary., Ozbek U; ACURARE-Rare and Undiagnosed Diseases Center, Acibadem University, Istanbul, Türkiye., Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Romero VI; School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador., Scaria V; CSIR Institute of Genomics and Integrative Biology, New Delhi, India., Jamuar SS; Genetics Service, Department of Pediatrics, KK Women's and Children's Hospital and Pediatric ACP, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore., Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital and Chulalongkorn University, Bangkok, Thailand., Gahl WA; National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, United States., Wiafe SA; Rare Disease Ghana Initiative, Accra, Ghana., Bodamer O; Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, Boston, MA, United States., Posada M; Rare Diseases Research Institute (IIER), SpainUDP, Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Taruscio D; National Center for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy.

Publikováno v: Frontiers in public health [Front Public Health] 2023 Sep 26; Vol. 11, pp. 1248260. Date of Electronic Publication: 2023 Sep 26 (Print Publication: 2023).

Audiologic Measures in an Indigenous Community with A2ML1- and FUT2- Related Otitis Media.

Autor: Santos-Cortez RLP; Department of Otolaryngology-Head and Neck Surgery, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Center for Children's Surgery, Children's Hospital Colorado, Aurora, Colorado, USA.; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Ong KMC; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Carlos-Hiceta A; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Tantoco MLC; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Yarza TKL; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., San Agustin ML; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Pedro M; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Cruz TLG; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Cutiongco-de la Paz EM; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Philippine Genome Center, University of the Philippines Diliman, Quezon City, Philippines., Abes GT; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Llanes EGDV; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Chan AL; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Chiong CM; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines., Reyes-Quintos MRT; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Department of Otorhinolaryngology, University of the Philippines College of Medicine-Philippine General Hospital, Manila, Philippines.

Publikováno v: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2023 Jan; Vol. 27 (1), pp. 12-17.

Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.

Autor: Frank DN; Department of Medicine, Division of Infectious Diseases, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Giese APJ; Department of Otorhinolaryngology, Head and Neck Surgery, University of Maryland, Baltimore, Maryland, USA., Hafren L; Department of Otorhinolaryngology, Head & Neck Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Bootpetch TC; Department of Otolaryngology-Head and Neck Surgery, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Yarza TKL; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Newborn Hearing Screening Reference Center, University of the Philippines Manila - National Institutes of Health, Manila, Philippines., Steritz MJ; Department of Otolaryngology-Head and Neck Surgery, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Pedro M; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines., Labra PJ; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines., Daly KA; Department of Otolaryngology, Head and Neck Surgery, University of Minnesota, Minneapolis, Minnesota, USA., Tantoco MLC; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Newborn Hearing Screening Reference Center, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines., Szeremeta W; Department of Otolaryngology, University of Texas Medical Branch at Galveston, Galveston, Texas, USA., Reyes-Quintos MRT; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Newborn Hearing Screening Reference Center, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines.; National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Ahankoob N; Department of Otolaryngology-Head and Neck Surgery, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Llanes EGDV; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Newborn Hearing Screening Reference Center, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines., Pine HS; Department of Otolaryngology, University of Texas Medical Branch at Galveston, Galveston, Texas, USA., Yousaf S; Department of Otorhinolaryngology, Head and Neck Surgery, University of Maryland, Baltimore, Maryland, USA., Ir D; Department of Medicine, Division of Infectious Diseases, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Einarsdottir E; Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.; Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland., de la Cruz RAR; Department of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines., Lee NR; Department of Anthropology, Sociology and History, University of San Carlos, Cebu City, Philippines., Nonato RMA; Department of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines., Robertson CE; Department of Medicine, Division of Infectious Diseases, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Ong KMC; Department of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines., Magno JPM; Department of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines., Chiong ANE; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines., Espiritu-Chiong MC; Renergy Dermatology & Laser Center, Taguig City, Philippines., San Agustin ML; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines., Cruz TLG; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines., Abes GT; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines., Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Cutiongco-de la Paz EM; National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Philippine Genome Center, University of the Philippines Diliman, Quezon City, Philippines., Kere J; Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.; Molecular Neurology Research Program, University of Helsinki, Helsinki, Finland.; Department of Medical and Molecular Genetics, King's College London, London, UK., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Mohlke KL; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Riazuddin S; Department of Otorhinolaryngology, Head and Neck Surgery, University of Maryland, Baltimore, Maryland, USA., Chan A; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines., Mattila PS; Department of Otorhinolaryngology, Head & Neck Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Leal SM; Center for Statistical Genetics, Gertrude H. Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University, New York, New York, USA., Ryan AF; Division of Otolaryngology, Department of Surgery, University of California San Diego School of Medicine and Veterans Affairs Medical Center, La Jolla, California, USA., Ahmed ZM; Department of Otorhinolaryngology, Head and Neck Surgery, University of Maryland, Baltimore, Maryland, USA., Chonmaitree T; Division of Infectious Diseases, Department of Pediatrics, University of Texas Medical Branch at Galveston, Galveston, Texas, USA., Sale MM; Center for Public Health Genomics, School of Medicine, Department of Biochemistry and Molecular Genetics, and Department of Public Health Sciences, University of Virginia, Charlottesville, Virginia, USA., Chiong CM; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Newborn Hearing Screening Reference Center, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Department of Otorhinolaryngology, Philippine General Hospital, Manila, Philippines., Santos-Cortez RLP; Department of Otolaryngology-Head and Neck Surgery, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA regie.santos-cortez@cuanschutz.edu.; Philippine National Ear Institute, University of the Philippines Manila - National Institutes of Health, Manila, Philippines.; Center for Children's Surgery, Children's Hospital Colorado, Aurora, Colorado, USA.

Publikováno v: Journal of medical genetics [J Med Genet] 2021 Jul; Vol. 58 (7), pp. 442-452. Date of Electronic Publication: 2020 Jul 24.