A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report
Gyening, Yeboah Kofi, Boris, Keren, Cyril, Mignot, Brush, Richard S, Nassogne, Marie-Cécile, Agbaga, Martin-Paul
Published in Acta neuropathologica communications (11.08.2023)
Published in Acta neuropathologica communications (11.08.2023)
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Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
Depienne, Christel, Bouteiller, Delphine, Keren, Boris, Cheuret, Emmanuel, Poirier, Karine, Trouillard, Oriane, Benyahia, Baya, Quelin, Chloé, Carpentier, Wassila, Julia, Sophie, Afenjar, Alexandra, Gautier, Agnès, Rivier, François, Meyer, Sophie, Berquin, Patrick, Hélias, Marie, Py, Isabelle, Rivera, Serge, Bahi-Buisson, Nadia, Gourfinkel-An, Isabelle, Cazeneuve, Cécile, Ruberg, Merle, Brice, Alexis, Nabbout, Rima, Leguern, Eric
Published in PLoS genetics (01.02.2009)
Published in PLoS genetics (01.02.2009)
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The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition
Hippolyte, Loyse, Maillard, Anne M, Rodriguez-Herreros, Borja, Pain, Aurélie, Martin-Brevet, Sandra, Ferrari, Carina, Conus, Philippe, Macé, Aurélien, Hadjikhani, Nouchine, Metspalu, Andres, Reigo, Anu, Kolk, Anneli, Männik, Katrin, Barker, Mandy, Isidor, Bertrand, Le Caignec, Cédric, Mignot, Cyril, Schneider, Laurence, Mottron, Laurent, Keren, Boris, David, Albert, Doco-Fenzy, Martine, Gérard, Marion, Bernier, Raphael, Goin-Kochel, Robin P, Hanson, Ellen, Green Snyder, LeeAnne, Ramus, Franck, Beckmann, Jacques S, Draganski, Bogdan, Reymond, Alexandre, Jacquemont, Sébastien
Published in Biological psychiatry (1969) (15.07.2016)
Published in Biological psychiatry (1969) (15.07.2016)
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De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Adam, Shelin, Boelman, Cyrus, Bolbocean, Corneliu, Candido, Tara, Eydoux, Patrice, Horvath, Gabriella, Huh, Linda, Nelson, Tanya N., Sinclair, Graham, van Karnebeek, Clara, Vercauteren, Suzanne, Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J.
Published in American journal of human genetics (03.08.2017)
Published in American journal of human genetics (03.08.2017)
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Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy
Papadopoulos, Constantinos, Malfatti, Edoardo, Métay, Corinne, Keren, Boris, Lejeune, Elodie, Buratti, Julien, Xirou, Sophia, Chrysanthou-Piterou, Margarita, Papadimas, George K
Published in International journal of molecular sciences (01.07.2023)
Published in International journal of molecular sciences (01.07.2023)
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A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway
Popov, Ivan K, Hiatt, Susan M, Whalen, Sandra, Keren, Boris, Ruivenkamp, Claudia, van Haeringen, Arie, Chen, Mei-Jan, Cooper, Gregory M, Korf, Bruce R, Chang, Chenbei
Published in Frontiers in physiology (08.04.2019)
Published in Frontiers in physiology (08.04.2019)
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Journal Article
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations
Cárdenas-de-la-Parra, Alonso, Martin-Brevet, Sandra, Moreau, Clara, Rodriguez-Herreros, Borja, Fonov, Vladimir S., Maillard, Anne M., Zürcher, Nicole R., Addor, Marie-Claude, Andrieux, Joris, Arveiler, Benoît, Baujatm, Geneviève, Sloan-Bénan, Frédérique, Belfiore, Marco, Bonneau, Dominique, Bouquillon, Sonia, Boute, Odile, Brusco, Alfredo, Busa, Tiffany, Caberg, Jean-Hubert, Campion, Dominique, Colombert, Vanessa, Cordier, Marie-Pierre, David, Albert, Debray, François-Guillaume, Delrue, Marie-Ange, Doco-Fenzy, Martine, Dunkhase-Heinl, Ulrike, Edery, Patrick, Fagerberg, Christina, Faivre, Laurence, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Héron, Delphine, Isidor, Bertrand, Jacquette, Aurélia, Jaillard, Sylvie, Journel, Hubert, Keren, Boris, Lacombe, Didier, Lebon, Sébastien, Le Caignec, Cédric, Lemaître, Marie-Pierre, Lespinasse, James, Mathieu-Dramart, Michèle, Mercier, Sandra, Mignot, Cyril, Missirian, Chantal, Petit, Florence, Pilekær Sørensen, Kristina, Pinson, Lucile, Plessis, Ghislaine, Prieur, Fabienne, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sanlaville, Damien, Schlott Kristiansen, Britta, Schluth-Bolard, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Hadjikhani, Nouchine, Beckmann, Jacques S., Reymond, Alexandre, Draganski, Bogdan, Jacquemont, Sébastien, Collins, D. Louis
Published in NeuroImage (Orlando, Fla.) (01.12.2019)
Published in NeuroImage (Orlando, Fla.) (01.12.2019)
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Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia
Fedida, Joel, Fressart, Veronique, Charron, Philippe, Surget, Elodie, Hery, Tiphaine, Richard, Pascale, Donal, Erwan, Keren, Boris, Duthoit, Guillaume, Hidden-Lucet, Françoise, Villard, Eric, Gandjbakhch, Estelle
Published in PloS one (02.08.2017)
Published in PloS one (02.08.2017)
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Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism
Dahawi, Maha, de Sainte Agathe, Jean-Madeleine, Elmagzoub, Mohamed S, Ahmed, Elhami A, Buratti, Julien, Courtin, Thomas, Noé, Eric, Bogoin, Julie, Copin, Bruno, Elmugadam, Fatima A, Abdelgadir, Wasma A, Ahmed, Ahmed K M A, Daldoum, Mohamed A, Altayeb, Rayan Mamoon Ibrahim, Bashir, Mohamed, Khalid, Leena Mohamed, Gamil, Sahar, Baldassari, Sara, Elsayed, Liena, Keren, Boris, Nuel, Gregory, Ahmed, Ammar E, Leguern, Eric
Published in Human genomics (21.11.2024)
Published in Human genomics (21.11.2024)
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The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity
Vallese, Francesca, Maso, Lorenzo, Giamogante, Flavia, Poggio, Elena, Barazzuol, Lucia, Salmaso, Andrea, Lopreiato, Raffaele, Cendron, Laura, Navazio, Lorella, Zanni, Ginevra, Weber, Yvonne, Kovacevic-Preradovic, Tatjana, Keren, Boris, Torraco, Alessandra, Carrozzo, Rosalba, Peretto, Francesco, Peggion, Caterina, Ferro, Stefania, Marin, Oriano, Zanotti, Giuseppe, Calì, Tito, Brini, Marisa, Carafoli, Ernesto
Published in Cell death & disease (07.10.2022)
Published in Cell death & disease (07.10.2022)
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Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
Marzin, Pauline, Mignot, Cyril, Dorison, Nathalie, Dufour, Louis, Ville, Dorothée, Kaminska, Anna, Panagiotakaki, Eleni, Dienpendaele, Anne-Sophie, Penniello, Marie-José, Nougues, Marie-Christine, Keren, Boris, Depienne, Christel, Nava, Caroline, Milh, Mathieu, Villard, Laurent, Richelme, Christian, Rivier, Clotilde, Whalen, Sandra, Heron, Delphine, Lesca, Gaëtan, Doummar, Diane
Published in Brain & development (Tokyo. 1979) (01.10.2018)
Published in Brain & development (Tokyo. 1979) (01.10.2018)
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Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
Heide, Solveig, MD, Keren, Boris, MD, PhD, Billette de Villemeur, Thierry, MD, PhD, Chantot-Bastaraud, Sandra, MD, Depienne, Christel, PhD, Nava, Caroline, MD, PhD, Mignot, Cyril, MD, PhD, Jacquette, Aurélia, MD, Fonteneau, Eric, Lejeune, Elodie, Mach, Corinne, Marey, Isabelle, MD, Whalen, Sandra, MD, Lacombe, Didier, MD, PhD, Naudion, Sophie, MD, Rooryck, Caroline, MD, PhD, Toutain, Annick, MD, PhD, Caignec, Cédric Le, MD, PhD, Haye, Damien, MD, Olivier-Faivre, Laurence, MD, PhD, Masurel-Paulet, Alice, MD, Thauvin-Robinet, Christel, MD, PhD, Lesne, Fabien, CRA, Faudet, Anne, CRA, Ville, Dorothée, MD, des Portes, Vincent, MD, PhD, Sanlaville, Damien, MD, PhD, Siffroi, Jean-Pierre, MD, PhD, Moutard, Marie-Laure, MD, Héron, Delphine, MD
Published in The Journal of pediatrics (01.06.2017)
Published in The Journal of pediatrics (01.06.2017)
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Journal Article
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B, Wheeler, Patricia G, Haynes, Devon, Juusola, Jane, Billette de Villemeur, Thierry, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias
Published in PLoS genetics (16.05.2018)
Published in PLoS genetics (16.05.2018)
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Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2
Henden, Lyndal, Freytag, Saskia, Afawi, Zaid, Baldassari, Sara, Berkovic, Samuel F., Bisulli, Francesca, Canafoglia, Laura, Casari, Giorgio, Crompton, Douglas Ewan, Depienne, Christel, Gecz, Jozef, Guerrini, Renzo, Helbig, Ingo, Hirsch, Edouard, Keren, Boris, Klein, Karl Martin, Labauge, Pierre, LeGuern, Eric, Licchetta, Laura, Mei, Davide, Nava, Caroline, Pippucci, Tommaso, Rudolf, Gabrielle, Scheffer, Ingrid Eileen, Striano, Pasquale, Tinuper, Paolo, Zara, Federico, Corbett, Mark, Bahlo, Melanie
Published in Human genetics (01.10.2016)
Published in Human genetics (01.10.2016)
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The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene
Sznajer, Yves, Keren, Boris, Baumann, Clarisse, Pereira, Sabrina, Alberti, Corinne, Elion, Jacques, Cavé, Hélène, Verloes, Alain
Published in Pediatrics (Evanston) (01.06.2007)
Published in Pediatrics (Evanston) (01.06.2007)
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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Mandel, Jean-Louis, Laugel, Vincent
Published in Orphanet journal of rare diseases (22.03.2016)
Published in Orphanet journal of rare diseases (22.03.2016)
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KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
Marchionni, Enrica, Méneret, Aurélie, Keren, Boris, Melki, Judith, Denier, Christian, Durr, Alexandra, Apartis, Emmanuelle, Boespflug-Tanguy, Odile, Mochel, Fanny
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (17.07.2019)
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (17.07.2019)
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Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B, Wheeler, Patricia G, Haynes, Devon, Juusola, Jane, de Villemeur, Thierry Billette, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias
Published in PLoS genetics (01.10.2018)
Published in PLoS genetics (01.10.2018)
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Variant recurrence confirms the existence of a FBXO31‐related spastic‐dystonic cerebral palsy syndrome
Dzinovic, Ivana, Škorvánek, Matej, Pavelekova, Petra, Zhao, Chen, Keren, Boris, Whalen, Sandra, Bakhtiari, Somayeh, Chih Jin, Sheng, Kruer, Michael C., Jech, Robert, Winkelmann, Juliane, Zech, Michael
Published in Annals of clinical and translational neurology (01.04.2021)
Published in Annals of clinical and translational neurology (01.04.2021)
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Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay
Vermehren-Schmaedick, Anke, Huang, Jeffrey Y, Levinson, Madison, Pomaville, Matthew B, Reed, Sarah, Bellus, Gary A, Gilbert, Fred, Keren, Boris, Heron, Delphine, Haye, Damien, Janello, Christine, Makowski, Christine, Danhauser, Katharina, Fedorov, Lev M, Haack, Tobias B, Wright, Kevin M, Cohen, Michael S
Published in Cells (Basel, Switzerland) (22.05.2021)
Published in Cells (Basel, Switzerland) (22.05.2021)
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