VaRank: a simple and powerful tool for ranking genetic variants by Véronique Geoffroy, Cécile Pizot, Claire Redin, Amélie Piton, Nasim Vasli, Corinne Stoetzel, André Blavier, Jocelyn Laporte, Jean Muller

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Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family rais... by Raphaëlle Goussot, MD, Megana Prasad, MD, Corinne Stoetzel, MD, Cédric Lenormand, MD, PhD, Hélène Dollfus, MD, PhD, Dan Lipsker, MD, PhD

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Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome by Elise Schaefer, Elise Schaefer, Clarisse Delvallée, Laura Mary, Corinne Stoetzel, Véronique Geoffroy, Caroline Marks-Delesalle, Muriel Holder-Espinasse, Jamal Ghoumid, Hélène Dollfus, Hélène Dollfus, Jean Muller, Jean Muller

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Involvement of MET/TWIST/APC Combination or the Potential Role of Ossification Factors in Pediatric High-Grade Osteosarcoma Oncogenesis by Natacha Entz-Werle, Thomas Lavaux, Nadia Metzger, Corinne Stoetzel, Christelle Lasthaus, Perrine Marec, Chantal Kalita, Laurence Brugieres, Helene Pacquement, Claudine Schmitt, Marie-Dominique Tabone, Jean-Claude Gentet, Patrick Lutz, Annie Babin, Pierre Oudet, Marie Pierre Gaub, Fabienne Perrin-Schmitt

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WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects by Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning by Virginie Laugel-Haushalter, Supawich Morkmued, Supawich Morkmued, Corinne Stoetzel, Véronique Geoffroy, Jean Muller, Jean Muller, Anne Boland, Jean-François Deleuze, Kirsley Chennen, Kirsley Chennen, Waranuch Pitiphat, Hélène Dollfus, Hélène Dollfus, Karen Niederreither, Karen Niederreither, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Patimaporn Pungchanchaikul

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A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta by Virginie Laugel-Haushalter, Séverine Bär, Elise Schaefer, Elise Schaefer, Corinne Stoetzel, Véronique Geoffroy, Yves Alembik, Naji Kharouf, Naji Kharouf, Mathilde Huckert, Pauline Hamm, Joseph Hemmerlé, Joseph Hemmerlé, Marie-Cécile Manière, Marie-Cécile Manière, Sylvie Friant, Hélène Dollfus, Hélène Dollfus, Hélène Dollfus, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan

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Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress by Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus

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