Marci M. Lesperance

Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice

Jérôme Ruel, Sarah B. Emery, Régis Nouvian et al. · The American Journal of Human Genetics · 2008 · 326 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Identification of p.A684V missense mutation in the <i>WFS1</i> gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

Nanna Dahl Rendtorff, Marianne Lodahl, Houda Boulahbel et al. · American Journal of Medical Genetics Part A · 2011 · 124 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Increased activity of <i>Diaphanous homolog 3</i> ( <i>DIAPH3</i> )/ <i>diaphanous</i> causes hearing defects in humans with auditory neuropathy and in <i>Drosophila</i>

Cynthia J. Schoen, Sarah B. Emery, Marc C. Thorne et al. · Proceedings of the National Academy of Sciences · 2010 · 124 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Squamous cell carcinoma arising in inverted papilloma

Marci M. Lesperance, Ramon M. Esclamado · The Laryngoscope · 1995 · 103 citations · Full text

Medicine, Oncology, Surgery +12

Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin*

David J. Brown, Theresa B. Kim, Elizabeth M. Petty et al. · The American Journal of Human Genetics · 2002 · 101 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17