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| 37386251 | Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. | Nat Genet | 2023 |
| 36583617 | Audiometric and Otologic Findings in Children and Young Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas. | | 2023 |
| 34480642 | Genetic hearing loss: the audiologist's perspective. | Human Genetics | 2022 |
| 35854274 | Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI). | Orphanet Journal of Rare Diseases | 2022 |
| 34652576 | TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. | Hum Genet | 2021 |
| 33529473 | Auditory phenotype of Smith-Lemli-Opitz syndrome. | American Journal of Medical Genetics, Part A | 2021 |
| 34089226 | Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. | Am J Med Genet A | 2021 |
| 33089500 | Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome. | Clinical Genetics | 2021 |
| 33383587 | Outcomes in Previously Healthy Cryptococcal Meningoencephalitis Patients Treated With Pulse Taper Corticosteroids for Post-infectious Inflammatory Syndrome. | Clin Infect Dis | 2021 |
| 33391154 | Hearing Loss and Irritability Reporting Without Vestibular Differences in Explosive Breaching Professionals. | Frontiers in Neurology | 2020 |
| 32372680 | Atypical and ultra-rare Usher syndrome: a review. | Ophthalmic Genetics | 2020 |
| 31157723 | Audiologic and Otologic Complications of Cryptococcal Meningoencephalitis in Non-HIV Previously Healthy Patients. | Otology and Neurotology | 2019 |
| 30243817 | All-night functional magnetic resonance imaging sleep studies. | Journal of Neuroscience Methods | 2019 |
| 31266487 | SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct. | BMC Medical Genetics | 2019 |
| 29192304 | Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia. | JAMA Otolaryngol Head Neck Surg | 2018 |
| 29342057 | Audiologic Natural History of Small Volume Cochleovestibular Schwannomas in Neurofibromatosis Type 2. | Otology and Neurotology | 2018 |
| 29276851 | Clinical trials, ototoxicity grading scales and the audiologist's role in therapeutic decision making. | International Journal of Audiology | 2018 |
| 27859305 | Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4. | Laryngoscope | 2017 |
| 28644204 | Hearing Safety From Single- and Double-Pulse Transcranial Magnetic Stimulation in Children and Young Adults. | Journal of Clinical Neurophysiology | 2017 |
| 28384694 | Auditory Phenotype of Smith-Magenis Syndrome. | Journal of Speech, Language, and Hearing Research | 2017 |
| 28803710 | Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. | Lancet | 2017 |
| 28573831 | Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients. | Am J Med Genet A | 2017 |
| 29163061 | Cyclodextrins and Iatrogenic Hearing Loss: New Drugs with Significant Risk. | Frontiers in Cellular Neuroscience | 2017 |
| 26485571 | Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. | Laryngoscope | 2016 |
| 26883091 | Heritability of non-speech auditory processing skills. | European Journal of Human Genetics | 2016 |
| 27428025 | Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes. | Pediatric Blood and Cancer | 2016 |
| 24906637 | A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease. | Annals of the Rheumatic Diseases | 2015 |
| 25968061 | Vestibular Dysfunction in Patients with Enlarged Vestibular Aqueduct. | Otolaryngology - Head and Neck Surgery | 2015 |
| 25556988 | Phase 1 trial and pharmacokinetic study of the oral platinum analog satraplatin in children and young adults with refractory solid tumors including brain tumors. | Pediatric Blood and Cancer | 2015 |
| 24839095 | Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C. | JARO - Journal of the Association for Research in Otolaryngology | 2014 |
| 25425308 | Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. | Investigative Ophthalmology and Visual Science | 2014 |
| 24225652 | Auditory phenotype of Niemann-Pick disease, type C1. | Ear and Hearing | 2014 |
| 24718755 | Audiovestibular Characteristics of Small Cochleovestibular Schwannomas in Neurofibromatosis Type 2. | Otolaryngology - Head and Neck Surgery | 2014 |
| 24622013 | Auditory and vestibular phenotypes associated with GATA3 mutation. | Otology and Neurotology | 2014 |
| 24058692 | Expression and function of scleraxis in the developing auditory system. | PLoS ONE | 2013 |
| 25960948 | <i>SLC26A4</i> mutation testing for hearing loss associated with enlargement of the vestibular aqueduct. | World J Otorhinolaryngol | 2013 |
| 23049959 | Mechanisms of hearing loss in neurofibromatosis type 2. | PLoS ONE | 2012 |
| 22294344 | Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes. | | 2012 |
| 22597578 | Audiovestibular dysfunction associated with adoptive cell immunotherapy for melanoma. | Otolaryngol Head Neck Surg | 2012 |
| 21940737 | Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. | J Med Genet | 2011 |
| 21358184 | Hereditary hearing loss with thyroid abnormalities. | Adv Otorhinolaryngol | 2011 |
| 21493283 | Cryopyrin-associated periodic syndromes: otolaryngologic and audiologic manifestations. | Otolaryngology - Head and Neck Surgery | 2011 |
| 22116369 | SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. | Cell Physiol Biochem | 2011 |
| 19998422 | SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct. | Laryngoscope | 2010 |
| 19415691 | Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. | Am J Med Genet B Neuropsychiatr Genet | 2010 |
| 19204907 | Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? | Hum Mutat | 2009 |
| 19732968 | Otolaryngologic markers for the early diagnosis of Turner syndrome. | International Journal of Pediatric Otorhinolaryngology | 2009 |
| 19578036 | Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. | Journal of Medical Genetics | 2009 |
| 17533509 | A twin study of auditory processing indicates that dichotic listening ability is a strongly heritable trait. | Hum Genet | 2007 |
| 17982369 | Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome. | Ear and Hearing | 2007 |