High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5

Authors: Lerat, Justine, Bonnet, Crystel, Cartault, François, Loundon, Natalie, Jacquemont, Marie‐Line, Darcel, Françoise, Rouillon, Isabelle, Mezouaghi, Kheira, Guichet, Agnes, Litzler, Julie, Gesny, Roselyne, Gherbi, Souad, Aissa, Ines Ben, Digeon, Fabienne Saint James, Garabedian, Eréa‐Nöel, Bonnefont, Jean‐Paul, Genin, Emmanuelle, Denoyelle, Françoise, Jonard, Laurence, Marlin, Sandrine

Source: Clinical genetics. 95(1):177-181

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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

Authors: Paul, Antoine, Drecourt, Anthony, Petit, Floriane, Deguine, Delphine Dupin, Vasnier, Christelle, Oufadem, Myriam, Masson, Cécile, Bonnet, Crystel, Masmoudi, Saber, Mosnier, Isabelle, Mahieu, Laurence, Bouccara, Didier, Kaplan, Josseline, Challe, Georges, Domange, Christelle, Mochel, Fanny, Sterkers, Olivier, Gerber, Sylvie, Nitschke, Patrick, Bole-Feysot, Christine, Jonard, Laurence, Gherbi, Souad, Mercati, Oriane, Ben Aissa, Ines, Lyonnet, Stanislas, Rötig, Agnès, Delahodde, Agnès, Marlin, Sandrine

Source: American journal of human genetics. 101(4):630-637

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Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

Authors: Ziegler, Alban, Loundon, Natalie, Jonard, Laurence, Cavé, Hélène, Baujat, Geneviève, Gherbi, Souad, Couloigner, Vincent, Marlin, Sandrine

Source: Otology & neurotology. 38(8):1081-1084

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Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

Authors: Tingaud‐Sequeira, Angèle, Trimouille, Aurélien, Marlin, Sandrine, Lopez, Estelle, Berenguer, Marie, Gherbi, Souad, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline

Source: Molecular genetics & genomic medicine. 8(10)

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MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review

Authors: Rubinato, Elisa, Rondeau, Sophie, Giuliano, Fabienne, Kossorotoff, Manoelle, Parodi, Marine, Gherbi, Souad, Steffan, Julie, Jonard, Laurence, Marlin, Sandrine

Source: European journal of medical genetics. 63(3)

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Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: A very mild phenotype

Authors: Jonard, Laurence, Couloigner, Vincent, Pierrot, Sébastien, Louha, Malek, Gherbi, Souad, Denoyelle, Françoise, Marlin, Sandrine

Source: In European Journal of Medical Genetics January 2012 55(1):56-58

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Discovery of a Large Deletion of KAL1in 2 Deaf Brothers

Authors: Marlin, Sandrine, Chantot-Bastaraud, Sandra, David, Albert, Loundon, Natalie, Jonard, Laurence, Portnoï, Marie-France, Bonnet, Crystel, Louha, Malek, Gherbi, Souad, Garabedian, Eréa Noël, Couderc, Remy, Denoyelle, Françoise

Source: Otology & Neurotology; December 2013, Vol. 34 Issue: 9 p1590-1594, 5p