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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: May 21, 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
Evaluation of newborn hearing screening results of infants with phenylketonuria.
Fatih Yüksel et al. Int J Pediatr Otorhinolaryngol 2024 177111840
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Genetics evaluation outcomes of patients with pediatric hearing loss: 2008-2022 retrospective study.
Sarah Mazzola et al. Am J Otolaryngol 2023 45(2) 104196
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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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Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.
Li Shan Chen et al. J Hum Genet 2023
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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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Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.
Lingrong Kong et al. Clin Genet 2023
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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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Assessing the Performance of the Clinician-Reported Genetic Testing Utility InDEx (C-GUIDE): Further Evidence of Inter-Rater Reliability.
Robin Z Hayeems et al. Clin Ther 2023
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Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
Nobuko Yamamoto et al. J Pediatr 2023 113620
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Maternal sex chromosome aneuploidy identified through noninvasive prenatal screening: clinical profile and patient experience.
Aaron W Roberts et al. Am J Perinatol 2023
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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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The qualitative experiences of otolaryngologists with genetic services in pediatric hearing loss evaluation.
Aaliyah Heyward et al. J Community Genet 2023
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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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The Role of Primary Mitochondrial Disorders in Hearing Impairment: An Overview.
Virginia Fancello et al. Medicina (Kaunas, Lithuania) 2023 59(3)
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The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Beatrice Spedicati et al. Biomedicines 2023 11(3)
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A Parent’s Guide to Genetics and Hearing Loss
CDC, 2023
Single Versus Multigene Testing for Hereditary Hearing Loss: Use and Costs in a Commercially Insured Cohort.
Peter K Moon et al. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2023
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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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Targeted Next-Generation Sequencing in Children With Bilateral Sensorineural Hearing Loss: Diagnostic Yield and Predictors of a Genetic Cause.
An Boudewyns et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2023
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Summary of the Polish Universal Neonatal Hearing Screening Program 2021year review.
Grazyna Greczka et al. Otolaryngologia polska = The Polish otolaryngology 2023 77(1) 1-5
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Implementation of Population-Based Genetic Testing of Newborn Infants for Prediction of Hearing Loss in Ontario, Canada
CDC Webinar, April 19, 2023
Parental Consanguinity and Risk for Childhood Hearing Loss: A Retrospective Cohort Study.
Bárbara Leal et al. Acta medica portuguesa 2023
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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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Rare-variant association analysis reveals known and new age-related hearing loss genes
DMC Sanchez et al, EJHG, February 15, 2023
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
Similar articles in PubMed
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 21, 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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