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Last Posted: Jun 06, 2024

• Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing.
  Kaukab Rajput et al. Otolaryngol Head Neck Surg 2024
• Clinical characteristics and hearing loss etiology of cochlear implantees undergoing surgery in their teens, 20s, and 30s.
  Goun Choe et al. Eur Arch Otorhinolaryngol 2024
• 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)
• Deaf boy can now hear after breakthrough gene treatment
  Medical XPress, January 23, 2024
• Evaluation of newborn hearing screening results of infants with phenylketonuria.
  Fatih Yüksel et al. Int J Pediatr Otorhinolaryngol 2024 177111840
• Genetics evaluation outcomes of patients with pediatric hearing loss: 2008-2022 retrospective study.
  Sarah Mazzola et al. Am J Otolaryngol 2023 45(2) 104196
• Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.
  Li Shan Chen et al. J Hum Genet 2023
• Next-generation sequencing for genetic testing of hearing loss populations.
  Lulu Wang et al. Clin Chim Acta 2023 552117693
• Machine Learning Models for Predicting Sudden Sensorineural Hearing Loss Outcome: A Systematic Review.
  Amirhossein Aghakhani et al. Ann Otol Rhinol Laryngol 2023 34894231206902
• Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.
  Lingrong Kong et al. Clin Genet 2023
• Social and physical predictors of mental health impact in adult women who have an FMR1 premutation
  C Kraan et al, Genetics in Med Open, August 26, 2023
• 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
• 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
• Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
  Nobuko Yamamoto et al. J Pediatr 2023 113620
• Maternal sex chromosome aneuploidy identified through noninvasive prenatal screening: clinical profile and patient experience.
  Aaron W Roberts et al. Am J Perinatol 2023
• Comprehensiveness of online sources for patient education on hereditary hearing impairment.
  Yasar Kemal Duymaz et al. Front Pediatr 2023 111147207
• The qualitative experiences of otolaryngologists with genetic services in pediatric hearing loss evaluation.
  Aaliyah Heyward et al. J Community Genet 2023
• Optimized concurrent hearing and genetic screening in Beijing, China: A cross-sectional study.
  Cheng Wen et al. Biosci Trends 2023
• The Role of Primary Mitochondrial Disorders in Hearing Impairment: An Overview.
  Virginia Fancello et al. Medicina (Kaunas, Lithuania) 2023 59(3)
• The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
  Beatrice Spedicati et al. Biomedicines 2023 11(3)
• 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
• Identification of High Likelihood of Dementia in Population-Based Surveys using Unsupervised Clustering: a Longitudinal Analysis.
  Amin Gharbi-Meliani et al. medRxiv : the preprint server for health sciences 2023
• Deafness gene screening based on a multilevel cascaded BPNN model.
  Xiao Liu et al. BMC bioinformatics 2023 24(1) 56
• 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
• Artificial Neural Network-Assisted Classification of Hearing Prognosis of Sudden Sensorineural Hearing Loss With Vertigo.
  Sheng-Chiao Lin et al. IEEE journal of translational engineering in health and medicine 2023 11170-181
• 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
• 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
• [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
• Rare-variant association analysis reveals known and new age-related hearing loss genes
  DMC Sanchez et al, EJHG, February 15, 2023
• Machine Learning Prediction of Objective Hearing Loss With Demographics, Clinical Factors, and Subjective Hearing Status.
  Tyler J Gathman et al. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 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
• Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania.
  Nika Petrova et al. PeerJ 2023 11e14514
• BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
  Trine Tangeraas et al. Brain : a journal of neurology 2023
• Association of Polygenic Risk Scores for Hearing Difficulty in Older Adults With Hearing Loss in Mid-Childhood and Midlife: A Population-Based Cross-sectional Study Within the Longitudinal Study of Australian Children.
  Jing Wang et al. JAMA otolaryngology-- head & neck surgery 2023 1
• 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
• Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
  Clabout Thomas et al. Genes 2023 14(1)
• Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
  Riza Anca-Lelia et al. Genes 2023 14(1)
• Association of Genetic Diagnoses of Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
  Carlson Ryan J et al. JAMA otolaryngology-- head & neck surgery 2023 1
• 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
• Offering and Returning Secondary Findings in the Context of Exome Sequencing for Hearing Loss: Clinicians' Views and Experiences.
  Notini Lauren et al. AJOB empirical bioethics 2023 1-10
• [Clinical practice guideline for the genetic diagnosis and counseling of hearing loss in China (2023)].
  et al. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2023 58(1) 3-14
• Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.
  Markova Tatiana et al. Journal of personalized medicine 2022 12(11)
• Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.
  Huang Quanfei et al. Journal of clinical laboratory analysis 2022 e24827
• Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: The utility of large-scale screening.
  Lopes Jaime et al. Pediatric pulmonology 2022
• 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
• Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss.
  Freeman Lucinda et al. Prenatal diagnosis 2022
• Effectiveness of universal newborn hearing screening: A systematic review and meta-analysis.
  Edmond Karen et al. Journal of global health 2022 1212006
• Effect of Health Education on Knowledge and Behaviour Towards Consanguineous Marriage and Infantile Hearing Loss.
  Thingujam Sonee et al. Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2022 74(3) 343-349
• De novo variants are a common cause of genetic hearing loss.
  Klimara Miles J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 10
• Impact of Genetic Testing on Hearing Interventions.
  Brodie Kara D et al. The Laryngoscope 2022
• Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.
  Liao Elizabeth N et al. JAMA network open 2022 5(9) e2233441
• GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss.
  Melidis Damianos P et al. PLoS computational biology 2022 18(9) e1009785
• The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKD.
  Lieberman Kenneth V et al. Kidney360 2022 3(5) 900-909
• 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
• Congenital hearing loss: a literature review of the genetic etiology in a Mexican population.
  Torre-González Carlos de la et al. Boletin medico del Hospital Infantil de Mexico 2022 79(4) 206-214
• Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
  Llerena Juan et al. BMC pediatrics 2022 22(1) 492
• Evaluation of Machine Learning Algorithms and Explainability Techniques to Detect Hearing Loss From a Speech-in-Noise Screening Test.
  Lenatti Marta et al. American journal of audiology 2022 1-19

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