AnnotSV: an integrated tool for structural variations annotation von Geoffroy, Véronique, Herenger, Yvan, Kress, Arnaud, Stoetzel, Corinne, Piton, Amélie, Dollfus, Hélène, Muller, Jean

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Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome von Schaefer, Elise, Stoetzel, Corinne, Scheidecker, Sophie, Geoffroy, Véronique, Prasad, Megana K, Redin, Claire, Missotte, Isabelle, Lacombe, Didier, Mandel, Jean-Louis, Muller, Jean, Dollfus, Hélène

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AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis von Geoffroy, Véronique, Guignard, Thomas, Kress, Arnaud, Gaillard, Jean-Baptiste, Solli-Nowlan, Tor, Schalk, Audrey, Gatinois, Vincent, Dollfus, Hélène, Scheidecker, Sophie, Muller, Jean

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The AnnotSV webserver in 2023: updated visualization and ranking von Geoffroy, Véronique, Lamouche, Jean-Baptiste, Guignard, Thomas, Nicaise, Samuel, Kress, Arnaud, Scheidecker, Sophie, Le Béchec, Antony, Muller, Jean

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A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi von Stoetzel, Corinne, Bär, Séverine, De Craene, Johan-Owen, Scheidecker, Sophie, Etard, Christelle, Chicher, Johana, Reck, Jennifer R., Perrault, Isabelle, Geoffroy, Véronique, Chennen, Kirsley, Strähle, Uwe, Hammann, Philippe, Friant, Sylvie, Dollfus, Hélène

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Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18) von Scheidecker, Sophie, Etard, Christelle, Pierce, Nathan W, Geoffroy, Véronique, Schaefer, Elise, Muller, Jean, Chennen, Kirsley, Flori, Elisabeth, Pelletier, Valérie, Poch, Olivier, Marion, Vincent, Stoetzel, Corinne, Strähle, Uwe, Nachury, Maxence V, Dollfus, Hélène

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes von Redin, Claire, Le Gras, Stéphanie, Mhamdi, Oussema, Geoffroy, Véronique, Stoetzel, Corinne, Vincent, Marie-Claire, Chiurazzi, Pietro, Lacombe, Didier, Ouertani, Ines, Petit, Florence, Till, Marianne, Verloes, Alain, Jost, Bernard, Chaabouni, Habiba Bouhamed, Dollfus, Helene, Mandel, Jean-Louis, Muller, Jean

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Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects von Bloch-Zupan, Agnès, Jamet, Xavier, Etard, Christelle, Laugel, Virginie, Muller, Jean, Geoffroy, Véronique, Strauss, Jean-Pierre, Pelletier, Valérie, Marion, Vincent, Poch, Olivier, Strahle, Uwe, Stoetzel, Corinne, Dollfus, Hélène

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Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy von Scheidecker, Sophie, Bär, Séverine, Stoetzel, Corinne, Geoffroy, Véronique, Lannes, Béatrice, Rinaldi, Bruno, Fischer, Frédéric, Becker, Hubert D., Pelletier, Valérie, Pagan, Cécile, Acquaviva‐Bourdain, Cécile, Kremer, Stéphane, Mirande, Marc, Tranchant, Christine, Muller, Jean, Friant, Sylvie, Dollfus, Hélène

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Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy von Scheidecker, Sophie, Etard, Christelle, Haren, Laurence, Stoetzel, Corinne, Hull, Sarah, Arno, Gavin, Plagnol, Vincent, Drunat, Séverine, Passemard, Sandrine, Toutain, Annick, Obringer, Cathy, Koob, Mériam, Geoffroy, Véronique, Marion, Vincent, Strähle, Uwe, Ostergaard, Pia, Verloes, Alain, Merdes, Andreas, Moore, Anthony T., Dollfus, Hélène

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

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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation von Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michèle, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Véronique, Courel, Maité, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Béchec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-François, Szelinger, Szabolcs, Dollfus, Hélène, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, Piton, Amélie

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

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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome von Delvallée, Clarisse, Nicaise, Samuel, Antin, Manuela, Leuvrey, Anne‐Sophie, Nourisson, Elsa, Leitch, Carmen C., Kellaris, Georgios, Stoetzel, Corinne, Geoffroy, Véronique, Scheidecker, Sophie, Keren, Boris, Depienne, Christel, Klar, Joakim, Dahl, Niklas, Deleuze, Jean‐François, Génin, Emmanuelle, Redon, Richard, Demurger, Florence, Devriendt, Koenraad, Mathieu‐Dramard, Michèle, Poitou‐Bernert, Christine, Odent, Sylvie, Katsanis, Nicholas, Mandel, Jean‐Louis, Davis, Erica E., Dollfus, Hélène, Muller, Jean

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

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Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish von Estrada‐Cuzcano, Alejandro, Etard, Christelle, Delvallée, Clarisse, Stoetzel, Corinne, Schaefer, Elise, Scheidecker, Sophie, Geoffroy, Véronique, Schneider, Aline, Studer, Fouzia, Mattioli, Francesca, Chennen, Kirsley, Sigaudy, Sabine, Plassard, Damien, Poch, Olivier, Piton, Amélie, Strahle, Uwe, Muller, Jean, Dollfus, Hélène

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

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

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Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype von El Chehadeh, Salima, Legrand, Anne, Stoetzel, Corinne, Geoffroy, Véronique, Billon, Clarisse, Adham, Salma, Jeunemaître, Xavier, Jaussaud, Roland, Muller, Jean, Schaefer, Elise, Benistan, Karelle, Gaertner, Sébastien, Bloch‐Zupan, Agnès, Courval, Aymeric, Manière, Marie‐Cécile, Petit, Catherine, Bursztejn, Anne‐Claire, Bal, Laurence, Reyre, Anthony, Chammas, Agathe, Busa, Tiffany, Dollfus, Hélène, Lipsker, Dan

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Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140 von Geoffroy, Véronique, Stoetzel, Corinne, Scheidecker, Sophie, Schaefer, Elise, Perrault, Isabelle, Bär, Séverine, Kröll, Ariane, Delbarre, Marion, Antin, Manuela, Leuvrey, Anne‐Sophie, Henry, Charline, Blanché, Hélène, Decker, Eva, Kloth, Katja, Klaus, Günter, Mache, Christoph, Martin‐Coignard, Dominique, McGinn, Steven, Boland, Anne, Deleuze, Jean‐François, Friant, Sylvie, Saunier, Sophie, Rozet, Jean‐Michel, Bergmann, Carsten, Dollfus, Hélène, Muller, Jean

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