Susana Léonard
University of Montpellier
4 Papers
78 Citations
Susana Léonard is an academic researcher from University of Montpellier. The author has contributed to research in topics: Gene & Usher syndrome. The author has an hindex of 3, co-authored 4 publications.
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Papers
Experience of targeted Usher exome sequencing as a clinical test.
Thomas Besnard,Gema García-García,David Baux,Christel Vaché,Valérie Faugère,Lise Larrieu,Susana Léonard,José M. Millán,Sue Malcolm,Mireille Claustres,Anne-Françoise Roux +10 more
TL;DR: It is shown that massively parallel targeted sequencing of 19 genes provides a new and reliable strategy for molecular diagnosis of Usher syndrome (USH) and nonsyndromic deafness, particularly appropriate for these disorders characterized by a high clinical and genetic heterogeneity and a complex structure of several of the genes involved.
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Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F
Fatima Ammar-Khodja,Valérie Faugère,David Baux,Claire Giannesini,Susana Léonard,Mohamed Makrelouf,Rahia Malek,Djamel Djennaoui,Akila Zenati,Mireille Claustres,Mireille Claustres,Anne-Françoise Roux,Anne-Françoise Roux +12 more
TL;DR: A systematic approach, involving haplotyping and genotyping, to the molecular diagnosis of non-syndromic deafness within 50 families and 9 sporadic cases from Algeria is described, and a strategy was developed which involved direct analysis of DFNB1.
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Test performance study for detection of Ralstonia solanacearum and Clavibacter sepedonicus in potato tubers with TaqMan PCR
R. A. M. Vreeburg,M. Nas,B. De Paepe,Tanja Dreo,Richard Gottsberger,E. Fornefeld,K. Fraser,Susana Léonard,A. C. Le Roux,E. T. M. Meekes,C. Rivoal,L. Smits‐Mastebroek,J. Van Vaerenbergh +12 more
TL;DR: Correct identification of spike samples was lower when DNA extraction from the spiked samples was performed by the participating laboratories, highlighting the importance of appropriate DNA extraction protocols.
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Four-year follow-up of diagnostic service in USH1 patients.
Anne Francoise Roux,Valérie Faugère,Christel Vaché,David Baux,Thomas Besnard,Susana Léonard,Catherine Blanchet,Christian P. Hamel,Michel Mondain,Brigitte Gilbert-Dussardier,Patrick Edery,Didier Lacombe,Dominique Bonneau,Muriel Holder-Espinasse,Umberto Ambrosetti,Hubert Journel,Albert David,Geneviève Lina-Granade,Sue Malcolm,Mireille Claustres +19 more
TL;DR: Distribution of missense, splicing, premature termination codons (PTCs), and large genomic alterations was determined among the USH genes and clearly highlights the need to pay special attention to the diagnostic approach and interpretation, depending on the mutated gene.