Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Asselin, Laure, Rivera Alvarez, José, Heide, Solveig, Bonnet, Camille S., Tilly, Peggy, Vitet, Hélène, Weber, Chantal, Bacino, Carlos A., Baranaño, Kristin, Chassevent, Anna, Dameron, Amy, Faivre, Laurence, Hanchard, Neil A., Mahida, Sonal, McWalter, Kirsty, Mignot, Cyril, Nava, Caroline, Rastetter, Agnès, Streff, Haley, Thauvin-Robinet, Christel, Weiss, Marjan M., Zapata, Gladys, Zwijnenburg, Petra J. G., Saudou, Frédéric, Depienne, Christel, Golzio, Christelle, Héron, Delphine, Godin, Juliette D.
Published in Nature communications (15.05.2020)
Published in Nature communications (15.05.2020)
Get full text
Journal Article
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
Haack, Tobias B., Hogarth, Penelope, Kruer, Michael C., Gregory, Allison, Wieland, Thomas, Schwarzmayr, Thomas, Graf, Elisabeth, Sanford, Lynn, Meyer, Esther, Kara, Eleanna, Cuno, Stephan M., Harik, Sami I., Dandu, Vasuki H., Nardocci, Nardo, Zorzi, Giovanna, Dunaway, Todd, Tarnopolsky, Mark, Skinner, Steven, Frucht, Steven, Hanspal, Era, Schrander-Stumpel, Connie, Héron, Delphine, Mignot, Cyril, Garavaglia, Barbara, Bhatia, Kailash, Hardy, John, Strom, Tim M., Boddaert, Nathalie, Houlden, Henry H., Kurian, Manju A., Meitinger, Thomas, Prokisch, Holger, Hayflick, Susan J.
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
Get full text
Journal Article
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
Beck, David B., Petracovici, Ana, He, Chongsheng, Moore, Hannah W., Louie, Raymond J., Ansar, Muhammad, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Santos-Cortez, Regie Lyn P., Prijoles, Eloise J., Bend, Renee, Keren, Boris, Mignot, Cyril, Nougues, Marie-Christine, Õunap, Katrin, Reimand, Tiia, Pajusalu, Sander, Zahid, Muhammad, Saqib, Muhammad Arif Nadeem, Buratti, Julien, Seaby, Eleanor G., McWalter, Kirsty, Telegrafi, Aida, Baldridge, Dustin, Shinawi, Marwan, Leal, Suzanne M., Schaefer, G. Bradley, Stevenson, Roger E., Banka, Siddharth, Bonasio, Roberto, Fahrner, Jill A.
Published in American journal of human genetics (06.02.2020)
Published in American journal of human genetics (06.02.2020)
Get full text
Journal Article
Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes
Hully, Marie, Lo Barco, Tommaso, Kaminska, Anna, Barcia, Giulia, Cances, Claude, Mignot, Cyril, Desguerre, Isabelle, Garcelon, Nicolas, Kabashi, Edor, Nabbout, Rima
Published in Genetics in medicine (01.05.2021)
Published in Genetics in medicine (01.05.2021)
Get full text
Journal Article
Two Novel Cases of Resistance to Thyroid Hormone Due to THRA Mutation
le Maire, Albane, Bouhours-Nouet, Natacha, Soamalala, Jessica, Mirebeau-Prunier, Delphine, Paloni, Matteo, Guee, Laura, Heron, Delphine, Mignot, Cyril, Illouz, Frédéric, Joubert, Florence, Briet, Claire, Rodien, Patrice, Bourguet, William, Flamant, Frédéric, Guyot, Romain
Published in Thyroid (New York, N.Y.) (01.08.2020)
Published in Thyroid (New York, N.Y.) (01.08.2020)
Get more information
Journal Article
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)
Get full text
Journal Article
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients
Stirnemann, Jérôme, Vigan, Marie, Hamroun, Dalil, Heraoui, Djazia, Rossi-Semerano, Linda, Berger, Marc G, Rose, Christian, Camou, Fabrice, de Roux-Serratrice, Christine, Grosbois, Bernard, Kaminsky, Pierre, Robert, Alain, Caillaud, Catherine, Froissart, Roselyne, Levade, Thierry, Masseau, Agathe, Mignot, Cyril, Sedel, Frédéric, Dobbelaere, Dries, Vanier, Marie T, Valayanopoulos, Vassili, Fain, Olivier, Fantin, Bruno, de Villemeur, Thierry Billette, Mentré, France, Belmatoug, Nadia
Published in Orphanet journal of rare diseases (09.10.2012)
Published in Orphanet journal of rare diseases (09.10.2012)
Get full text
Journal Article
Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency
Casrouge, Armanda, Zhang, Shen-Ying, Eidenschenk, Céline, Jouanguy, Emmanuelle, Puel, Anne, Yang, Kun, Alcais, Alexandre, Picard, Capucine, Mahfoufi, Nora, Nicolas, Nathalie, Lorenzo, Lazaro, Plancoulaine, Sabine, Sénéchal, Brigitte, Geissmann, Frédéric, Tabeta, Koichi, Hoebe, Kasper, Du, Xin, Miller, Richard L, Héron, Bénédicte, Mignot, Cyril, Villemeur, Thierry Billette de, Lebon, Pierre, Dulac, Olivier, Rozenberg, Flore, Beutler, Bruce, Tardieu, Marc, Abel, Laurent, Casanova, Jean-Laurent
Published in Science (American Association for the Advancement of Science) (13.10.2006)
Published in Science (American Association for the Advancement of Science) (13.10.2006)
Get full text
Journal Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
Kreienkamp, Hans-Jürgen, Wagner, Matias, Weigand, Heike, McConkie-Rossell, Allyn, McDonald, Marie, Keren, Boris, Mignot, Cyril, Gauthier, Julie, Soucy, Jean-François, Michaud, Jacques L., Dumas, Meghan, Smith, Rosemarie, Löbel, Ulrike, Hempel, Maja, Kubisch, Christian, Denecke, Jonas, Campeau, Philippe M., Bain, Jennifer M., Lessel, Davor
Published in Human genetics (01.02.2022)
Published in Human genetics (01.02.2022)
Get full text
Journal Article
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia
Doummar, Diane, Dentel, Christel, Lyautey, Romane, Metreau, Julia, Keren, Boris, Drouot, Nathalie, Malherbe, Ludivine, Bouilleret, Viviane, Courraud, Jérémie, Valenti-Hirsch, Maria Paola, Minotti, Lorella, Dozieres-Puyravel, Blandine, Bär, Séverine, Scholly, Julia, Schaefer, Elise, Nava, Caroline, Wirth, Thomas, Nasser, Hala, de Salins, Marie, de Saint Martin, Anne, Warde, Marie Thérèse Abi, Kahane, Philippe, Hirsch, Edouard, Anheim, Mathieu, Friant, Sylvie, Chelly, Jamel, Mignot, Cyril, Rudolf, Gabrielle
Published in European journal of human genetics : EJHG (01.10.2020)
Published in European journal of human genetics : EJHG (01.10.2020)
Get full text
Journal Article
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
Fotiou, Elisavet, Martin-Almedina, Silvia, Simpson, Michael A., Lin, Shin, Gordon, Kristiana, Brice, Glen, Atton, Giles, Jeffery, Iona, Rees, David C., Mignot, Cyril, Vogt, Julie, Homfray, Tessa, Snyder, Michael P., Rockson, Stanley G., Jeffery, Steve, Mortimer, Peter S., Mansour, Sahar, Ostergaard, Pia
Published in Nature communications (26.04.2019)
Published in Nature communications (26.04.2019)
Get full text
Journal Article
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels
Abidi, Affef, Devaux, Jérôme J, Molinari, Florence, Alcaraz, Gisèle, Michon, François-Xavier, Sutera-Sardo, Julie, Becq, Hélène, Lacoste, Caroline, Altuzarra, Cécilia, Afenjar, Alexandra, Mignot, Cyril, Doummar, Diane, Isidor, Bertrand, Guyen, Sylvie N, Colin, Estelle, De La Vaissière, Sabine, Haye, Damien, Trauffler, Adeline, Badens, Catherine, Prieur, Fabienne, Lesca, Gaetan, Villard, Laurent, Milh, Mathieu, Aniksztejn, Laurent
Published in Neurobiology of disease (01.08.2015)
Published in Neurobiology of disease (01.08.2015)
Get full text
Journal Article
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
Mignot, Cyril, Lambert, Laetitia, Pasquier, Laurent, Bienvenu, Thierry, Delahaye-Duriez, Andrée, Keren, Boris, Lefranc, Jérémie, Saunier, Aline, Allou, Lila, Roth, Virginie, Valduga, Mylène, Moustaïne, Aissa, Auvin, Stéphane, Barrey, Catherine, Chantot-Bastaraud, Sandra, Lebrun, Nicolas, Moutard, Marie-Laure, Nougues, Marie-Christine, Vermersch, Anne-Isabelle, Héron, Bénédicte, Pipiras, Eva, Héron, Delphine, Olivier-Faivre, Laurence, Guéant, Jean-Louis, Jonveaux, Philippe, Philippe, Christophe
Published in Journal of medical genetics (01.01.2015)
Published in Journal of medical genetics (01.01.2015)
Get full text
Journal Article
STXBP1‐related encephalopathy presenting as infantile spasms and generalized tremor in three patients
Mignot, Cyril, Moutard, Marie‐Laure, Trouillard, Oriane, Gourfinkel‐An, Isabelle, Jacquette, Aurélia, Arveiler, Benoit, Morice‐Picard, Fanny, Lacombe, Didier, Chiron, Catherine, Ville, Dorothée, Charles, Perrine, LeGuern, Eric, Depienne, Christel, Héron, Delphine
Published in Epilepsia (Copenhagen) (01.10.2011)
Published in Epilepsia (Copenhagen) (01.10.2011)
Get full text
Journal Article
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
Bölsterli, Bigna K, Boltshauser, Eugen, Palmieri, Luigi, Spenger, Johannes, Brunner-Krainz, Michaela, Distelmaier, Felix, Freisinger, Peter, Geis, Tobias, Gropman, Andrea L, Häberle, Johannes, Hentschel, Julia, Jeandidier, Bruno, Karall, Daniela, Keren, Boris, Klabunde-Cherwon, Annick, Konstantopoulou, Vassiliki, Kottke, Raimund, Lasorsa, Francesco M, Makowski, Christine, Mignot, Cyril, O’Gorman Tuura, Ruth, Porcelli, Vito, Santer, René, Sen, Kuntal, Steinbrücker, Katja, Syrbe, Steffen, Wagner, Matias, Ziegler, Andreas, Zöggeler, Thomas, Mayr, Johannes A, Prokisch, Holger, Wortmann, Saskia B
Published in Nutrients (31.08.2022)
Published in Nutrients (31.08.2022)
Get full text
Journal Article
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)
Get full text
Journal Article
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
Whalen, Sandra, Shaw, Marie, Mignot, Cyril, Héron, Delphine, Bastaraud, Sandra Chantot, Walti, Cecile Cieuta, Liebelt, Jan, Elmslie, Frances, Yap, Patrick, Hurst, Jane, Forsythe, Elisabeth, Kirmse, Brian, Ozmore, Jillian, Spinelli, Alessandro Mauro, Calabrese, Olga, de Villemeur, Thierry Billette, Tabet, Anne Claude, Levy, Jonathan, Guet, Agnes, Kossorotoff, Manoëlle, Kamien, Benjamin, Morton, Jenny, McCabe, Anne, Brischoux-Boucher, Elise, Raas-Rothschild, Annick, Pini, Antonella, Carroll, Renée, Hartley, Jessica N, Frosk, Patrick, Slavotinek, Anne, Truxal, Kristen, Jennifer, Carroll, Dheedene, Annelies, Cui, Hong, Kumar, Vishal, Thomson, Glen, Riccardi, Florence, Gecz, Jozef, Villard, Laurent
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
Get full text
Journal Article
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
McMillan, Hugh J, Telegrafi, Aida, Singleton, Amanda, Cho, Megan T, Lelli, Daniel, Lynn, Francis C, Griffin, Julie, Asamoah, Alexander, Rinne, Tuula, Erasmus, Corrie E, Koolen, David A, Haaxma, Charlotte A, Keren, Boris, Doummar, Diane, Mignot, Cyril, Thompson, Islay, Velsher, Lea, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Tchan, Michel, Simons, Cas, Christodoulou, John, Martín-Hernández, Elena, Guillen Sacoto, Maria J, Henderson, Lindsay B, McLaughlin, Heather, Molday, Laurie L, Molday, Robert S, Yoon, Grace
Published in Orphanet journal of rare diseases (31.05.2018)
Published in Orphanet journal of rare diseases (31.05.2018)
Get full text
Journal Article
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)
Get full text
Journal Article
Searching for secondary findings: considering actionability and preserving the right not to know
Isidor, Bertrand, Julia, Sophie, Saugier-Veber, Pascale, Weil-Dubuc, Paul-Loup, Bézieau, Stéphane, Bieth, Eric, Bonnefont, Jean-Paul, Munnich, Arnold, Bourdeaut, Franck, Bourgain, Catherine, Chassaing, Nicolas, Corradini, Nadège, Haye, Damien, Plaisancie, Julie, Dupin-Deguine, Delphine, Calvas, Patrick, Mignot, Cyril, Cogné, Benjamin, Manouvrier, Sylvie, Pasquier, Laurent, Héron, Delphine, Boycott, Kym M, Turrini, Mauro, Vears, Danya F, Nizon, Mathilde, Vincent, Marie
Published in European journal of human genetics : EJHG (01.10.2019)
Published in European journal of human genetics : EJHG (01.10.2019)
Get full text
Journal Article