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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
• Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit.
  Zhu Yunqian et al. JAMA network open 2022 5(7) e2220986
• Comprehensive Genomic Sequencing-Based Screening for Hearing Loss in the Neonatal Intensive Care Setting-Is It Time?
  Abou Tayoun Ahmad N et al. JAMA network open 2022 5(7) e2220992
• Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
  Li Marilyn M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 24(7) 1392-1406
• Comprehensive Genomic Sequencing–Based Screening for Hearing Loss in the Neonatal Intensive Care Setting—Is It Time?
  AN Abou Tayoun, JAMA Network Open, July 11, 2022
• Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation.
  Elander Johanna et al. International journal of pediatric otorhinolaryngology 2022 159111218
• 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
• 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
• A Deep Learning Approach to Predict Conductive Hearing Loss in Patients With Otitis Media With Effusion Using Otoscopic Images.
  Zeng Junbo et al. JAMA otolaryngology-- head & neck surgery 2022
• Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study.
  Reis Cláudia Sousa et al. Cytogenetic and genome research 2022 1-9
• Follow-up on children with suspected bilateral congenital hearing loss identified through universal newborn hearing screening program in Taiwan: A national-based population study.
  Hsieh Wen Hui et al. International journal of pediatric otorhinolaryngology 2022 157111141
• Genetic Testing in Newborns Moves From Rare to Routine Application.
  Pillers De-Ann M et al. JAMA pediatrics 2022 3
• 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
• Older Adults' and Clinicians' Perspectives on a Smart Health Platform for the Aging Population: Design and Evaluation Study.
  Cristiano Alessia et al. JMIR aging 2022 5(1) e29623
• 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
• Is Newborn Hearing Screening Cost Effective? Economic Consideration for Policy Makers.
  Jafarlou Fatemeh et al. International journal of preventive medicine 2022 12155
• Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China.
  Guomei Cao et al. Computational and mathematical methods in medicine 2022 20221713337
• Clinicians' Views and Experiences with Offering and Returning Results from Exome Sequencing to Parents of Infants with Hearing Loss.
  Notini Lauren et al. Journal of clinical medicine 2022 11(1)
• Newborn Hearing Screening Benefits Children, but Global Disparities Persist.
  Neumann Katrin et al. Journal of clinical medicine 2022 11(1)
• [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
• Digital approaches to automated and machine learning assessments of hearing: a scoping review.
  Wasmann Jan-Wilem et al. Journal of medical Internet research 2021
• TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.
  Moon In Seok et al. Frontiers in genetics 2021 12780874
• Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts.
  Nakano Atsuko et al. International journal of pediatric otorhinolaryngology 2021 110975
• Deafness-family matters.
  Roux Anne-Françoise et al. European journal of human genetics : EJHG 2021 11
• Genetics of Childhood Hearing Loss.
  Mitchell Calli Ober et al. Otolaryngologic clinics of North America 2021 54(6) 1081-1092
• Genetic screening techniques and diseases for neonatal genetic diseases.
  Han Lianshu et al. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2021 50(4) 429-435
• Using Machine Learning and the National Health and Nutrition Examination Survey to Classify Individuals With Hearing Loss.
  Ellis Gregory M et al. Frontiers in digital health 2021 3723533
• Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
  Hiramatsu Ken et al. Genes 2021 12(10)
• Newborn Hearing Screening Can Improve Reading Skills
  CDC, October 2021
• Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
  Brunelli Marcela Junqueira et al. The Cochrane database of systematic reviews 2021 9CD009806
• Universal newborn hearing screening in the Italian Region of Sicily in 2018.
  Ferlito Salvatore et al. Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale 2021 41(4) 356-363

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