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| 37109107 | Audiovestibular Findings in a Cohort of Patients with Chiari Malformation Type I and Dizziness. | | 2023 |
| 36583617 | Audiometric and Otologic Findings in Children and Young Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas. | | 2023 |
| 37386251 | Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. | Nat Genet | 2023 |
| 33971761 | Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder. | Otolaryngology - Head and Neck Surgery | 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 |
| 34153201 | The Supine Superior Semicircular Canal Dehiscence Test. | American Journal of Audiology | 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 |
| 32866347 | The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature. | Am J Med Genet C Semin Med Genet | 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 |
| 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 |
| 29432406 | Examination of Utricular Response Using oVEMP and Unilateral Centrifugation Rotation Testing. | Ear and Hearing | 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 |
| 28573831 | Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients. | Am J Med Genet A | 2017 |
| 26485571 | Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. | Laryngoscope | 2016 |
| 26976425 | Efficacy and Biomarker Study of Bevacizumab for Hearing Loss Resulting From Neurofibromatosis Type 2-Associated Vestibular Schwannomas. | J Clin Oncol | 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 |
| 27095636 | Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects. | J Med Genet | 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 |
| 27516717 | Aging of the Human Vestibular System. | Seminars in Hearing | 2015 |
| 24622013 | Auditory and vestibular phenotypes associated with GATA3 mutation. | Otology and Neurotology | 2014 |
| 25425308 | Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. | Investigative Ophthalmology and Visual Science | 2014 |
| 24460437 | Inhaled amikacin for treatment of refractory pulmonary nontuberculous mycobacterial disease. | Ann Am Thorac Soc | 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 |
| 23365097 | Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration. | Brain | 2013 |
| 25960948 | <i>SLC26A4</i> mutation testing for hearing loss associated with enlargement of the vestibular aqueduct. | World J Otorhinolaryngol | 2013 |
| 23928520 | Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration. | Otology and Neurotology | 2013 |
| 24051746 | Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. | JAMA Otolaryngol Head Neck Surg | 2013 |
| 23093488 | Optic neuropathy in McCune-Albright syndrome: effects of early diagnosis and treatment of growth hormone excess. | J Clin Endocrinol Metab | 2013 |
| 23661601 | Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency. | Hum Mutat | 2013 |
| 23070752 | Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications. | Laryngoscope | 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 |
| 21898437 | Otologic and audiologic manifestations of Hutchinson-Gilford progeria syndrome. | Laryngoscope | 2011 |
| 21358184 | Hereditary hearing loss with thyroid abnormalities. | Adv Otorhinolaryngol | 2011 |