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International Journal of Pediatric Otorhinolaryngology|July 13, 2010
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueductLaurence Jonard, Magali Niasme-Grare, Crystel Bonnet, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2012
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 geneDomitille Gras, Laurence Jonard, Emmanuel Roze, et al.American Journal of Human Genetics|October 3, 2017
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis DiseasesAntoine Paul, Anthony Drecourt, Floriane Petit, et al.European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.European Journal of Human Genetics : EJHG|March 30, 2006
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populationsSébastien Albert, Hélène Blons, Laurence Jonard, et al.Audiology Research|May 23, 2023
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing ImpairmentLaurence Jonard, Davide Brotto, Miguel A Moreno-Pelayo, et al.Journal of Medical Genetics|July 13, 2013
Prevalence of rare mitochondrial DNA mutations in mitochondrial disordersSylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, et al.Orphanet Journal of Rare Diseases|May 17, 2011
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosisCrystel Bonnet, M'hamed Grati, Sandrine Marlin, et al.Pageof 4