Publications


Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.
Laryngoscope 2017 Jul 15;127(7):E238-E243. Epub 2016 Nov 15.
Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.


Trauma-Specific Brain Abnormalities in Suspected Mild Traumatic Brain Injury Patients Identified in the First 48 Hours after Injury: A Blinded Magnetic Resonance Imaging Comparative Study Including Suspected Acute Minor Stroke Patients.
J Neurotrauma 2017 Jan 10;34(1):23-30. Epub 2016 Jun 10.
1 Stroke Diagnostics and Therapeutics Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, Maryland.

A phase II trial of enzastaurin (LY317615) in combination with bevacizumab in adults with recurrent malignant gliomas.
J Neurooncol 2016 Mar 7;127(1):127-35. Epub 2015 Dec 7.
Division of Neuro-Oncology, Director of the Brain Tumor Center, New York-Presbyterian Hospital/Weill Cornell Medical Center, 1305 York Avenue, 9th Floor, New York, NY, 10021, USA.

A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease.
Ann Rheum Dis 2015 Sep 6;74(9):1714-9. Epub 2014 Jun 6.
Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases at the National Institutes of Health, Bethesda, Maryland, USA.

Gadolinium-based MRI characterization of leptomeningeal inflammation in multiple sclerosis.
Neurology 2015 Jul 17;85(1):18-28. Epub 2015 Apr 17.
From the Translational Neuroradiology Unit (M.A., L.V., A.R., G.N., P.S., D.S.R.), Neuroimmunology Clinic (I.C.M.C., J.O., K.F.), and Flow Cytometry Core Facility (D.M.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Neuroimaging Research Unit (M.A.), Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan; Department of Neurology and Radiology (L.V.), University of Florence, Italy; Department of Neurology (M.I.R.-M., P.A.C., C.A.P.), Johns Hopkins School of Medicine, Baltimore; and Diagnostic Radiology Department (J.A.B., D.S.R.), Clinical Center, NIH, Bethesda, MD.


Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas.
Neuro Oncol 2015 Apr 1;17(4):566-73. Epub 2014 Dec 1.
Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland (R.D., K.L.M., R.A.V., P.C., X.W., A.R.-C., A.R.A.); Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland (A.P., D.R.S.); Office of the Clinical Director, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland (H.J.K.); Radiology and Imaging Sciences, The Clinical Center at the National Institutes of Health, National Institutes of Health, Bethesda, Maryland (J.A.B.); Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland (S.C.C.); Department of Neurosurgery, University of Virginia, CDW, Charlottesville, Virginia (A.R.A.).

Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.
Cortex 2013 Nov-Dec;49(10):2700-10. Epub 2013 Feb 19.
Unit on Metabolism and Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD, USA; Section on Growth and Obesity, Program in Developmental Endocrinology and Genetics, NICHD, National Institutes of Health, Bethesda, MD, USA. Electronic address:


Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
JAMA Otolaryngol Head Neck Surg 2013 Sep;139(9):907-13
Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.

Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications.
Laryngoscope 2013 Feb 15;123(2):477-83. Epub 2012 Oct 15.
Office of the Clinical Director and Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, Georgetown University Medical Center, Washington, DC, USA.

Optic neuropathy in McCune-Albright syndrome: effects of early diagnosis and treatment of growth hormone excess.
J Clin Endocrinol Metab 2013 Jan 23;98(1):E126-34. Epub 2012 Oct 23.
Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.


Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome.
BMC Med Genet 2011 Feb 9;12:21. Epub 2011 Feb 9.
Laboratory of Molecular Genetics, Division of Pediatric Otolaryngology Head & Neck Surgery, Cincinnati Children's Hospital Research Foundation, and University of Cincinnati, College of Medicine, Cincinnati, OH, USA.




Phase II trial of single-agent bevacizumab followed by bevacizumab plus irinotecan at tumor progression in recurrent glioblastoma.
J Clin Oncol 2009 Feb 29;27(5):740-5. Epub 2008 Dec 29.
Neuro-Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892-8200, USA.

Cochlear implantation for hearing loss associated with bilateral endolymphatic sac tumors in von Hippel-Lindau disease.
Otol Neurotol 2007 Oct;28(7):927-30
Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1414, USA.

Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.
Am J Med Genet A 2007 Jul;143A(14):1592-8
Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville 20850-3320, Maryland, USA.

Real-time image-guided direct convective perfusion of intrinsic brainstem lesions. Technical note.
J Neurosurg 2007 Jul;107(1):190-7
Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1414, USA.



Pegvisomant for the treatment of gsp-mediated growth hormone excess in patients with McCune-Albright syndrome.
J Clin Endocrinol Metab 2006 Aug 23;91(8):2960-6. Epub 2006 May 23.
Department of Oral Medicine, School of Dental Medicine, University of Pennsylvania, The Robert Schattner Center Room 209, 240 South 40th Street, Philadelphia, PA 19104, USA.


Local distribution and toxicity of prolonged hippocampal infusion of muscimol.
J Neurosurg 2005 Dec;103(6):1035-45
Surgical Neurology Branch, Electroencephalography Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1414, USA.

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.
Cell Physiol Biochem 2011 18;28(3):545-52. Epub 2011 Nov 18.
Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850-3320, USA.


Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.
Laryngoscope 2016 07 20;126(7):E240-7. Epub 2015 Oct 20.
Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.


PreSMA stimulation changes task-free functional connectivity in the fronto-basal-ganglia that correlates with response inhibition efficiency.
Hum Brain Mapp 2016 09 4;37(9):3236-49. Epub 2016 May 4.
Human Cortical Physiology and Neurorehabilitation Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, 20892.

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