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| 37109107 | Audiovestibular Findings in a Cohort of Patients with Chiari Malformation Type I and Dizziness. | | 2023 |
| 37668839 | CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct. | | 2023 |
| 37561579 | A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome. | J Clin Invest | 2023 |
| 36583617 | Audiometric and Otologic Findings in Children and Young Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas. | | 2023 |
| 36951427 | A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report. | | 2023 |
| 36571908 | A new paradigm for assessing postural stability. | | 2023 |
| 37386251 | Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. | Nat Genet | 2023 |
| 36807241 | Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. | Clin Genet | 2023 |
| 34480642 | Genetic hearing loss: the audiologist's perspective. | Human Genetics | 2022 |
| 35931504 | The audiogram: Detection of pure-tone stimuli in ototoxicity monitoring and assessments of investigational medicines for the inner ear. | Journal of the Acoustical Society of America | 2022 |
| 35854274 | Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI). | Orphanet Journal of Rare Diseases | 2022 |
| 33971761 | Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder. | Otolaryngology - Head and Neck Surgery | 2022 |
| 35266249 | Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. | Hum Mutat | 2022 |
| 34751129 | Proposed therapy, developed in a -deficient mouse, for progressive loss of vision in human Usher syndrome. | eLife | 2021 |
| 33529473 | Auditory phenotype of Smith-Lemli-Opitz syndrome. | American Journal of Medical Genetics, Part A | 2021 |
| 34331386 | Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A). | Am J Med Genet A | 2021 |
| 33089500 | Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome. | Clinical Genetics | 2021 |
| 33393488 | Atorvastatin is associated with reduced cisplatin-induced hearing loss. | Journal of Clinical Investigation | 2021 |
| 34627174 | Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies. | BMC Neurol | 2021 |
| 34549989 | Clinical Considerations for Routine Auditory and Vestibular Monitoring in Patients With Cystic Fibrosis. | American Journal of Audiology | 2021 |
| 34652576 | TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. | Hum Genet | 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 |
| 33136623 | Stability of Early Auditory Evoked Potential Components Over Extended Test-Retest Intervals in Young Adults. | Ear and Hearing | 2020 |
| 31157723 | Audiologic and Otologic Complications of Cryptococcal Meningoencephalitis in Non-HIV Previously Healthy Patients. | Otology and Neurotology | 2019 |
| 30461122 | Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. | Hum Mutat | 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 |
| 29342053 | Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation. | Otology and Neurotology | 2018 |
| 29432406 | Examination of Utricular Response Using oVEMP and Unilateral Centrifugation Rotation Testing. | Ear and Hearing | 2018 |
| 29276851 | Clinical trials, ototoxicity grading scales and the audiologist's role in therapeutic decision making. | International Journal of Audiology | 2018 |
| 27573290 | Genetic causes of moderate to severe hearing loss point to modifiers. | Clinical Genetics | 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 |
| 28847925 | mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. | Proceedings of the National Academy of Sciences of the United States of America | 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 |
| 27388694 | Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. | Genet Med | 2017 |
| 27859305 | Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4. | Laryngoscope | 2017 |
| 27759032 | A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness. | Eur J Hum Genet | 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 |
| 26282285 | GATA3 haploinsufficiency does not block allergic sensitization or atopic disease. | J Allergy Clin Immunol | 2016 |
| 26485571 | Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. | Laryngoscope | 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 |
| 26046366 | Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. | Am J Hum Genet | 2015 |