Triple diagnosis of Wiedemann‐Steiner, Waardenburg and DLG3‐related intellectual disability association found by WES: A case report
Matis, Thibaut, Michaud, Vincent, Van‐Gils, Julien, Raclet, Virginie, Plaisant, Claudio, Fergelot, Patricia, Lasseaux, Eulalie, Arveiler, Benoit, Trimouille, Aurélien
Published in The journal of gene medicine (01.08.2020)
Published in The journal of gene medicine (01.08.2020)
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Journal Article
Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients
Bianchi, Chloé, Margot, Henri, Fernandes, Helder, Pasquet, Marlène, Priqueler, Laurence, Roy‐Peaud, Frédérique, Bauduer, Frédéric, Bayart, Sophie, Garnier, Nathalie, Fain, Olivier, Van Gils, Julien, Joly, Sandrine Baron, Rialland, Fanny, Paillard, Catherine, Deparis, Marianna, Lambilliotte, Anne, Leblanc, Thierry, Fahd, Mony, Leverger, Guy, Héritier, Sébastien, Geneviève, David, Rieux‐Laucat, Frédéric, Picard, Capucine, Neyraud, Caroline, Aladjidi, Nathalie
Published in British journal of haematology (01.05.2024)
Published in British journal of haematology (01.05.2024)
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Journal Article
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations
Van‐Gils, Julien, Naudion, Sophie, Toutain, Jérôme, Lancelot, Gwenaelle, Attié‐Bitach, Tania, Blesson, Sophie, Demeer, Bénédicte, Doray, Bérénice, Gonzales, Marie, Martinovic, Jelena, Whalen, Sandra, Taine, Laurence, Arveiler, Benoit, Lacombe, Didier, Fergelot, Patricia
Published in Clinical genetics (01.03.2019)
Published in Clinical genetics (01.03.2019)
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Journal Article
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Van Gils, Julien, Magdinier, Frederique, Fergelot, Patricia, Lacombe, Didier
Published in Genes (24.06.2021)
Published in Genes (24.06.2021)
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Journal Article
Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians
Adamo-Croux, Marie, Auger-Gilli, Adriane, Guyader, Gwenaël Le, Aubin-Courjault, Juliette, Margot, Henri, Bar, Claire, Lacombe, Didier, Van-Gils, Julien, Legendre, Marine, Binet, Aurélien, Horn, Xavier Le Guillou
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.07.2024)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.07.2024)
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Journal Article
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors
Willim, Jana, Woike, Daniel, Greene, Daniel, Das, Sarada, Pfeifer, Kevin, Yuan, Weimin, Lindsey, Anika, Itani, Omar, Böhme, Amber L., Tibbe, Debora, Hönck, Hans-Hinrich, Hassani Nia, Fatemeh, Zech, Michael, Brunet, Theresa, Faivre, Laurence, Sorlin, Arthur, Vitobello, Antonio, Smol, Thomas, Colson, Cindy, Baranano, Kristin, Schatz, Krista, Bayat, Allan, Schoch, Kelly, Spillmann, Rebecca, Davis, Erica E., Conboy, Erin, Vetrini, Francesco, Platzer, Konrad, Neuser, Sonja, Gburek-Augustat, Janina, Grace, Alexandra Noel, Mitchell, Bailey, Stegmann, Alexander, Sinnema, Margje, Meeks, Naomi, Saunders, Carol, Cadieux-Dion, Maxime, Hoyer, Juliane, Van-Gils, Julien, de Sainte-Agathe, Jean-Madeleine, Thompson, Michelle L., Bebin, E. Martina, Weisz-Hubshman, Monika, Tabet, Anne-Claude, Verloes, Alain, Levy, Jonathan, Latypova, Xenia, Harder, Sönke, Silverman, Gary A., Pak, Stephen C., Schedl, Tim, Freson, Kathleen, Mumford, Andrew, Turro, Ernest, Schlein, Christian, Shashi, Vandana, Kreienkamp, Hans-Jürgen
Published in Nature communications (10.09.2024)
Published in Nature communications (10.09.2024)
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Journal Article
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay
Pilliod, Julie, Moutton, Sébastien, Lavie, Julie, Maurat, Elise, Hubert, Christophe, Bellance, Nadège, Anheim, Mathieu, Forlani, Sylvie, Mochel, Fanny, N'Guyen, Karine, Thauvin-Robinet, Christel, Verny, Christophe, Milea, Dan, Lesca, Gaëtan, Koenig, Michel, Rodriguez, Diana, Houcinat, Nada, Van-Gils, Julien, Durand, Christelle M., Guichet, Agnès, Barth, Magalie, Bonneau, Dominique, Convers, Philippe, Maillart, Elisabeth, Guyant-Marechal, Lucie, Hannequin, Didier, Fromager, Guillaume, Afenjar, Alexandra, Chantot-Bastaraud, Sandra, Valence, Stéphanie, Charles, Perrine, Berquin, Patrick, Rooryck, Caroline, Bouron, Julie, Brice, Alexis, Lacombe, Didier, Rossignol, Rodrigue, Stevanin, Giovanni, Benard, Giovanni, Burglen, Lydie, Durr, Alexandra, Goizet, Cyril, Coupry, Isabelle
Published in Annals of neurology (01.12.2015)
Published in Annals of neurology (01.12.2015)
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Journal Article
Hemidystonia with polymicrogyria is part of ATP1A3-related disorders
Lacombe, Didier, Van-Gils, Julien, Lebrun, Marine, Trimouille, Aurélien, Michaud, Vincent, Cabet, Sara, Chateil, Jean-François, Pedespan, Jean-Michel, Bar, Claire, Lesca, Gaetan
Published in Brain & development (Tokyo. 1979) (01.09.2022)
Published in Brain & development (Tokyo. 1979) (01.09.2022)
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Journal Article
Magnetic resonance imaging diagnosis of subependymal giant cell astrocytomas in follow-up of children with tuberous sclerosis complex: should we always use contrast enhancement?
Gaillard, Anne-Lise, Crombé, Amandine, Jecko, Vincent, Bessou, Pierre, Havez, Marion, Pédespan, Jean-Michel, Van Gils, Julien, Chateil, Jean-François
Published in Pediatric radiology (01.09.2020)
Published in Pediatric radiology (01.09.2020)
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Journal Article
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases
Cabasson, Sébastien, Van-Gils, Julien, Villéga, Frédéric, Abi-Warde, Marie-Thérèse, Barcia, Giulia, Lazaro, Leila, Cancés, Claude, Chelly, Jamel, Karsenty, Caroline, Rivera, Serge, de Saint-Martin, Anne, Trimouille, Aurélien, Villard, Laurent, Pédespan, Jean-Michel
Published in European journal of paediatric neurology (01.09.2020)
Published in European journal of paediatric neurology (01.09.2020)
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Journal Article
Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome
Van Gils, Julien, Karkar, Slim, Barre, Aurélien, Ley-Ngardigal, Seyta, Nothof, Sophie, Claverol, Stéphane, Tokarski, Caroline, Trani, Jean-Philippe, Chevalier, Raphael, Broucqsault, Natacha, El Yazidi, Claire, Lacombe, Didier, Fergelot, Patricia, Magdinier, Frédérique
Published in Communications biology (15.10.2024)
Published in Communications biology (15.10.2024)
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Journal Article
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Galazzi, Elena, van Gils, Julien, Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.
Published in HGG advances (10.10.2024)
Published in HGG advances (10.10.2024)
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Journal Article
Comment on "QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44 727 first-trimester prenatal diagnoses"
Toutain, Jérôme, Van-Gils, Julien, Horovitz, Jacques, Saura, Robert
Published in Prenatal diagnosis (01.11.2013)
Published in Prenatal diagnosis (01.11.2013)
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Journal Article
Atypical hematologic and renal manifestations in Neurofibromatosis type I: Coincidence or pathophysiological link?
Van-Gils, Julien, Harambat, Jérôme, Jubert, Charlotte, Vidaud, Dominique, Llanas, Brigitte, Perel, Yves, Lacombe, Didier, Goizet, Cyril
Published in European journal of medical genetics (01.11.2014)
Published in European journal of medical genetics (01.11.2014)
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Journal Article
Rubinstein-Taybi Syndrome: Presentation in the First Month of Life
Levetan, Candice, Van Gils, Julien, Saba, Alicia, Rodríguez-Fonseca, Cristina, Fieggen, Karen, Tooke, Lloyd
Published in The Journal of pediatrics (01.10.2022)
Published in The Journal of pediatrics (01.10.2022)
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Journal Article
Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study
Charpié, Maëlle, Brunelle, Perrine, Baujat, Geneviève, Michot, Caroline, Van Gils, Julien, Leheup, Bruno, Schaefer, Élise, Koumakis, Eugénie, Pejin, Zagorka, Pinto, Graziella, Monnot, Sophie, Cormier-Daire, Valérie
Published in European journal of human genetics : EJHG (01.12.2024)
Published in European journal of human genetics : EJHG (01.12.2024)
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Journal Article
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M.
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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Journal Article
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
Marzin, Pauline, Rondeau, Sophie, Alessandri, Jean-Luc, Dieterich, Klaus, le Goff, Carine, Mahaut, Clémentine, Mercier, Sandra, Michot, Caroline, Moldovan, Oana, Miolo, Gianmaria, Rossi, Massimiliano, Van-Gils, Julien, Francannet, Christine, Robert, Matthieu P, Jaïs, Jean-Philippe, Huber, Céline, Cormier-Daire, Valerie
Published in Journal of medical genetics (01.02.2024)
Published in Journal of medical genetics (01.02.2024)
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Journal Article
Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant
Angelini, Chloé, Van Gils, Julien, Bigourdan, Antoine, Jouk, Pierre-Simon, Lacombe, Didier, Menegon, Patrice, Moutton, Sébastien, Riant, Florence, Sole, Guilhem, Tournier-Lasserve, Elisabeth, Trimouille, Aurélien, Vincent, Marie, Goizet, Cyril
Published in European journal of medical genetics (01.06.2019)
Published in European journal of medical genetics (01.06.2019)
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