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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: May 03, 2024
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Rethinking non-syndromic hearing loss and its mimics in the genomic era
B Vona, EJHG, March 6, 2024
Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study.
Antoine Paul et al. Int J Neonatal Screen 2024 10(1)
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Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study
A Paul et al, IJNS, February 2024
A cost-effectiveness analysis of pre-pregnancy genetic screening for deafness: an empirical study in China.
Yipeng Lv et al. Front Public Health 2023 111081339
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Next-generation sequencing for genetic testing of hearing loss populations.
Lulu Wang et al. Clin Chim Acta 2023 552117693
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Should genes for non-syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness.
Lucinda Freeman et al. J Genet Couns 2023
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Gene Screening for Non-Syndromic Deafness in Hainanese Patients.
Yifei Fu et al. J Int Adv Otol 2023 19(4) 283-287
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Comprehensiveness of online sources for patient education on hereditary hearing impairment.
Yasar Kemal Duymaz et al. Front Pediatr 2023 111147207
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Optimized concurrent hearing and genetic screening in Beijing, China: A cross-sectional study.
Cheng Wen et al. Biosci Trends 2023
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[Comparison and interpretation of etiological diagnosis guidelines for genetic deafness between China and the United States].
H E Xu et al. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2023 58(4) 416-418
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Deafness gene screening based on a multilevel cascaded BPNN model.
Xiao Liu et al. BMC bioinformatics 2023 24(1) 56
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[Analysis of genotypes on 850 newborns with SLC26A4 single-allele mutation and the phenotypes of those with second variant].
L H Huang et al. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2023 58(2) 117-125
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Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening.
Lucinda Freeman et al. European journal of human genetics : EJHG 2023
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Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort.
Hui Daniel et al. PLoS genetics 2023 19(1) e1010584
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Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
Clabout Thomas et al. Genes 2023 14(1)
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Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma Jing et al. Human genomics 2023 17(1) 1
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The incorporation of next-generation sequencing into pediatric care.
Lee Ni-Chung et al. Pediatrics and neonatology 2022
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Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province.
Luo Haiyan et al. Frontiers in pediatrics 2022 101020519
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Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss.
Freeman Lucinda et al. Prenatal diagnosis 2022
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The Frequency of Common Deafness-Associated Variants Among 3,555,336 Newborns in China and 141,456 Individuals Across Seven Populations Worldwide.
Zhang Jiao et al. Ear and hearing 2022
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The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review.
Freeman Lucinda et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
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The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review
L Freeman et al, Genetics in Medicine, June 3, 2022
[The clinical phenotype and gene analysis of syndromic deafness with PTPN11 gene mutation].
Gao Y et al. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2022 57(3) 317-323
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Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.
Mutai Hideki et al. Orphanet journal of rare diseases 2022 17(1) 114
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Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China.
Bian Panpan et al. Inquiry : a journal of medical care organization, provision and financing 2022 59469580211055571
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Global Research on Hereditary Hearing Impairment Over the Last 40 Years: A Bibliometric Study.
Tekin Ahmet M et al. The journal of international advanced otology 2022 17(6) 482-491
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Is Newborn Hearing Screening Cost Effective? Economic Consideration for Policy Makers.
Jafarlou Fatemeh et al. International journal of preventive medicine 2022 12155
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The good, the bad, and the utilitarian: attitudes towards genetic testing and implications for disability.
Maftei Alexandra et al. Current psychology (New Brunswick, N.J.) 2022 1-22
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Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China.
Guomei Cao et al. Computational and mathematical methods in medicine 2022 20221713337
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[Clinical characteristics and molecular mechanisms of hypoparathyroidism related to GATA3 gene mutation].
Yang J et al. Zhonghua nei ke za zhi 2022 61(1) 66-71
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 03, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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