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Nature Genetics|June 29, 2006
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathySedigheh Delmaghani, Francisco J del Castillo, Vincent Michel, et al.
Molecular Cell|October 3, 2017
P-Body Purification Reveals the Condensation of Repressed mRNA RegulonsArnaud Hubstenberger, Maïté Courel, Marianne Bénard, et al.
American Journal of Human Genetics|March 16, 2007
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndromeBethan E Hoskins, Carl H Cramer, Derek Silvius, et al.
Pflugers Archiv : European Journal of Physiology|September 17, 2009
Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cellsNicolas Michalski, Vincent Michel, Elisa Caberlotto, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 26, 2011
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereociliaElisa Caberlotto, Vincent Michel, Isabelle Foucher, et al.
The Journal of Cell Biology|October 10, 2012
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from miceIman Sahly, Eric Dufour, Cataldo Schietroma, et al.
European Journal of Human Genetics : EJHG|December 25, 2003
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 geneDelphine Feldmann, Françoise Denoyelle, Natalie Loundon, et al.
BMC Medical Genetics|May 28, 2010
Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathyDa-Yong Wang, Yi-Chen Wang, Dominique Weil, et al.
Orphanet Journal of Rare Diseases|December 3, 2013
Characteristics and management of congenital esophageal stenosis: findings from a multicenter studyLaurent Michaud, Frédéric Coutenier, Guillaume Podevin, et al.
Plos One|June 14, 2014
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafnessZied Riahi, Crystel Bonnet, Rim Zainine, et al.
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