Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice
Ruel, Jérôme, Emery, Sarah, Nouvian, Régis, Bersot, Tiphaine, Amilhon, Bénédicte, Van Rybroek, Jana M., Rebillard, Guy, Lenoir, Marc, Eybalin, Michel, Delprat, Benjamin, Sivakumaran, Theru A., Giros, Bruno, El Mestikawy, Salah, Moser, Tobias, Smith, Richard J.H., Lesperance, Marci M., Puel, Jean-Luc
Published in American journal of human genetics (01.08.2008)
Published in American journal of human genetics (01.08.2008)
Get full text
Journal Article
Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila
Schoen, Cynthia J., Emery, Sarah B., Thorne, Marc C., Ammana, Hima R., Śliwerska, Elzbieta, Arnett, Jameson, Hortsch, Michael, Hannan, Frances, Burmeister, Margit, Lesperance, Marci M., King, Mary-Claire
Published in Proceedings of the National Academy of Sciences - PNAS (27.07.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (27.07.2010)
Get full text
Journal Article
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment
Rendtorff, Nanna D., Lodahl, Marianne, Boulahbel, Houda, Johansen, Ida R., Pandya, Arti, Welch, Katherine O., Norris, Virginia W., Arnos, Kathleen S., Bitner-Glindzicz, Maria, Emery, Sarah B., Mets, Marilyn B., Fagerheim, Toril, Eriksson, Kristina, Hansen, Lars, Bruhn, Helene, Möller, Claes, Lindholm, Sture, Ensgaard, Stefan, Lesperance, Marci M., Tranebjaerg, Lisbeth
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
Get full text
Journal Article
Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1
Surel, Clément, Guillet, Marie, Lenoir, Marc, Bourien, Jérôme, Sendin, Gaston, Joly, Willy, Delprat, Benjamin, Lesperance, Marci M, Puel, Jean-Luc, Nouvian, Régis
Published in eNeuro (01.11.2016)
Published in eNeuro (01.11.2016)
Get full text
Journal Article
Commentary on “Occupational Noise, Smoking and a High Body Mass Index are Risk Factors for Age-Related Hearing Impairment and Moderate Alcohol Consumption is Protective: a European Population-Based Multicentre Study” by Fransen et al., J. Assoc. Res. Otolaryngol. DOI 10.1007/s10162-008-0123-1
Lesperance, Marci M., Burmeister, Margit
Published in Journal of the Association for Research in Otolaryngology (01.09.2008)
Published in Journal of the Association for Research in Otolaryngology (01.09.2008)
Get full text
Journal Article
Clinical characterization of novel chromosome 22q13 microdeletions
Ha, Jennifer F, Ahmad, Ayesha, Lesperance, Marci M
Published in International journal of pediatric otorhinolaryngology (01.04.2017)
Published in International journal of pediatric otorhinolaryngology (01.04.2017)
Get full text
Journal Article
A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells
Starr, Arnold, Isaacson, Brandon, Michalewski, Henry J, Zeng, Fan-Gang, Kong, Ying-Yee, Beale, Paula, Paulson, George W, Keats, Bronya J B, Lesperance, Marci M
Published in Journal of the Association for Research in Otolaryngology (01.12.2004)
Published in Journal of the Association for Research in Otolaryngology (01.12.2004)
Get full text
Journal Article
“My Plate is Full”: Reasons for Declining a Genetic Evaluation of Hearing Loss
Lesperance, Marci M., Winkler, Erin, Melendez, Tori L., Yashar, Beverly M.
Published in Journal of genetic counseling (01.06.2018)
Published in Journal of genetic counseling (01.06.2018)
Get full text
Journal Article
Novel DICER1 mutation as cause of multinodular goiter in children
Darrat, Ilaaf, Bedoyan, Jirair K., Chen, Ming, Schuette, Jane L., Lesperance, Marci M., Irish, Jonathan
Published in Head & neck (01.12.2013)
Published in Head & neck (01.12.2013)
Get full text
Journal Article
Infantile Frey's syndrome
Tillman, Brittny N, Lesperance, Marci M, Brinkmeier, Jennifer V
Published in International journal of pediatric otorhinolaryngology (01.06.2015)
Published in International journal of pediatric otorhinolaryngology (01.06.2015)
Get full text
Journal Article
Residual Thyroid Tissue After Thyroidectomy in a Patient With TSH Receptor-Activating Mutation Presenting as a Neck Mass
Singer, Kanakadurga, Menon, Ram K, Lesperance, Marci M, McHugh, Jonathan B, Gebarski, Stephen S, Avram, Anca M
Published in The journal of clinical endocrinology and metabolism (01.02.2013)
Published in The journal of clinical endocrinology and metabolism (01.02.2013)
Get full text
Journal Article
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
Cryns, Kim, Sivakumaran, Theru A., Van den Ouweland, Jody M.W., Pennings, Ronald J.E., Cremers, Cor W.R.J., Flothmann, Kris, Young, Terry-Lynn, Smith, Richard J.H., Lesperance, Marci M., Camp, Guy Van
Published in Human mutation (01.10.2003)
Published in Human mutation (01.10.2003)
Get full text
Journal Article
Autosomal Dominant Progressive Sensorineural Hearing Loss Due to a Novel Mutation in the KCNQ4 Gene
Arnett, Jameson, Emery, Sarah B, Kim, Theresa B, Boerst, Angelique K, Lee, Kwanghyuk, Leal, Suzanne M, Lesperance, Marci M
Published in Archives of otolaryngology--head & neck surgery (01.01.2011)
Published in Archives of otolaryngology--head & neck surgery (01.01.2011)
Get full text
Journal Article
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies
Jensen, Daniel R., Martin, Donna M., Gebarski, Stephen, Sahoo, Trilochan, Brundage, Ellen K., Chinault, A. Craig, Otto, Edgar A., Chaki, Moumita, Hildebrandt, Friedhelm, Cheung, Sau Wai, Lesperance, Marci M.
Published in American journal of medical genetics. Part A (01.03.2009)
Published in American journal of medical genetics. Part A (01.03.2009)
Get full text
Journal Article
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
Brown, David J., Kim, Theresa B., Petty, Elizabeth M., Downs, Catherine A., Martin, Donna M., Strouse, Peter J., Moroi, Sayoko E., Milunsky, Jeff M., Lesperance, Marci M.
Published in American journal of human genetics (01.09.2002)
Published in American journal of human genetics (01.09.2002)
Get full text
Journal Article