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Forensic Science International. Genetics|June 24, 2026
Analysis of low-input and degraded forensic DNA trace samples with NGS using the MiSeq FGx platformAmel Larnane, Cédric Fund, Mélanie Letexier, et al.
Forensic Science International. Genetics|July 16, 2024
An innovative approach for low input forensic DNA sample analysis using the GlobalFiler™ IQC PCR amplification Kit on the Magelia® platformAmel Larnane, Sebastian Aguilar Pierlé, Mélanie Letexier, et al.
Cancer Cytopathology|October 28, 2015
Massively parallel DNA sequencing from routinely processed cytological smearsLaure Piqueret-Stephan, Charles Marcaillou, Cécile Reyes, et al.
BMC Medical Genetics|December 7, 2007
Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysisAnne Philippi, Frédéric Tores, Jérome Carayol, et al.
Biomed Research International|February 19, 2015
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophySaid El Shamieh, Elise Boulanger-Scemama, Marie-Elise Lancelot, et al.
International Journal of Molecular Sciences|October 3, 2019
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod DystrophiesElise Boulanger-Scemama, Saddek Mohand-Saïd, Said El Shamieh, et al.
Orphanet Journal of Rare Diseases|January 27, 2012
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseasesIsabelle Audo, Kinga M Bujakowska, Thierry Léveillard, et al.
Orphanet Journal of Rare Diseases|June 25, 2015
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlationElise Boulanger-Scemama, Said El Shamieh, Vanessa Démontant, et al.
Human Mutation|November 9, 2011
CRB1 mutations in inherited retinal dystrophiesKinga Bujakowska, Isabelle Audo, Saddek Mohand-Saïd, et al.
Clinical Genetics|September 30, 2018
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophyCécile Méjécase, Aurélie Hummel, Saddek Mohand-Saïd, et al.
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