NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients
Bertacchi, Michele, Romano, Anna Lisa, Loubat, Agnès, Tran Mau‐Them, Frederic, Willems, Marjolaine, Faivre, Laurence, Khau van Kien, Philippe, Perrin, Laurence, Devillard, Françoise, Sorlin, Arthur, Kuentz, Paul, Philippe, Christophe, Garde, Aurore, Neri, Francesco, Di Giaimo, Rossella, Oliviero, Salvatore, Cappello, Silvia, D'Incerti, Ludovico, Frassoni, Carolina, Studer, Michèle
Published in The EMBO journal (01.07.2020)
Published in The EMBO journal (01.07.2020)
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Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype
Cospain, Auriane, Schaefer, Elise, Faoucher, Marie, Dubourg, Christèle, Carré, Wilfrid, Bizaoui, Varoona, Assoumani, Jessica, Van Maldergem, Lionel, Piton, Amélie, Gérard, Bénédicte, Tran Mau‐Them, Frédéric, Bruel, Ange‐Line, Faivre, Laurence, Demurger, Florence, Pasquier, Laurent, Odent, Sylvie, Fradin, Mélanie, Lavillaureix, Alinoë
Published in Clinical genetics (01.05.2021)
Published in Clinical genetics (01.05.2021)
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SCYL2‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?
Malbos, Marlène, Vera, Gabriella, Sheth, Harsh, Schnur, Rhonda E., Juven, Aurélien, Brehin, Anne‐Claire, Sheth, Jayesh, Gandhi, Ajit, Shapiro, Faye L., Bruel, Ange‐Line, Marguet, Florent, Begtrup, Amber, Monaghan, Kristin G., Safraou, Hana, Brasseur‐Daudruy, Marie, Mau‐Them, Frédéric Tran, Duffourd, Yannis, Faivre, Laurence, Thauvin‐Robinet, Christel, Benke, Paul J., Philippe, Christophe
Published in Clinical genetics (01.12.2024)
Published in Clinical genetics (01.12.2024)
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Journal Article
A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever
Ravel, Jean‐Marie, Dreumont, Natacha, Mosca, Pauline, Smith, Desiree E. C., Mendes, Marisa I., Wiedemann, Arnaud, Coelho, David, Schmitt, Emmanuelle, Rivière, Jean‐Baptiste, Tran Mau‐Them, Frédéric, Thevenon, Julien, Kuentz, Paul, Polivka, Marc, Fuchs, Sabine A., Kok, Gautam, Thauvin‐Robinet, Christel, Guéant, Jean‐Louis, Salomons, Gajja S., Faivre, Laurence, Feillet, François
Published in Human mutation (01.12.2021)
Published in Human mutation (01.12.2021)
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Journal Article
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group
Lemattre, Camille, Imbert-Bouteille, Marion, Gatinois, Vincent, Benit, Paule, Sanchez, Elodie, Guignard, Thomas, Tran Mau-Them, Frédéric, Haquet, Emmanuelle, Rivier, François, Carme, Emilie, Roubertie, Agathe, Boland, Anne, Lechner, Doris, Meyer, Vincent, Thevenon, Julien, Duffourd, Yannis, Rivière, Jean-Baptiste, Deleuze, Jean-François, Wells, Constance, Molinari, Florence, Rustin, Pierre, Blanchet, Patricia, Geneviève, David
Published in European journal of human genetics : EJHG (01.11.2019)
Published in European journal of human genetics : EJHG (01.11.2019)
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Journal Article
Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome
Marbach, Felix, Lipska‐Ziętkiewicz, Beata S., Knurowska, Agata, Michaud, Vincent, Margot, Henri, Lespinasse, James, Tran Mau Them, Frédéric, Coubes, Christine, Park, Joohyun, Grosch, Sarah, Roggia, Cristiana, Grasshoff, Ute, Kalsner, Louisa, Denommé‐Pichon, Anne‐Sophie, Afenjar, Alexandra, Héron, Bénédicte, Keren, Boris, Caro, Pilar, Schaaf, Christian P.
Published in American journal of medical genetics. Part A (01.09.2022)
Published in American journal of medical genetics. Part A (01.09.2022)
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Journal Article
Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases
Lehalle, Daphné, Colombo, Roberto, O'Grady, Michael, Héron, Bénédicte, Houcinat, Nada, Kuentz, Paul, Moutton, Sebastien, Sorlin, Arthur, Thevenon, Julien, Delanne, Julian, Gay, Sebastien, Racine, Caroline, Garde, Aurore, Tran Mau‐Them, Frédéric, Philippe, Christophe, Vitobello, Antonio, Nambot, Sophie, Huet, Frédéric, Duffourd, Yannis, Feillet, François, Thauvin‐Robinet, Christel, Marlin, Sandrine, Faivre, Laurence
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
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Journal Article
A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy
Lauritano, Anna, Moutton, Sebastien, Longobardi, Elena, Tran Mau‐Them, Frédéric, Laudati, Giusy, Nappi, Piera, Soldovieri, Maria Virginia, Ambrosino, Paolo, Cataldi, Mauro, Jouan, Thibaud, Lehalle, Daphné, Maurey, Hélène, Philippe, Christophe, Miceli, Francesco, Vitobello, Antonio, Taglialatela, Maurizio
Published in Epilepsia open (01.09.2019)
Published in Epilepsia open (01.09.2019)
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Journal Article
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome
Nishio, Yosuke, Kato, Kohji, Tran Mau-Them, Frederic, Futagawa, Hiroshi, Quélin, Chloé, Masuda, Saori, Vitobello, Antonio, Otsuji, Shiomi, Shawki, Hossam H., Oishi, Hisashi, Thauvin-Robinet, Christel, Takenouchi, Toshiki, Kosaki, Kenjiro, Takahashi, Yoshiyuki, Saitoh, Shinji
Published in HGG advances (12.10.2023)
Published in HGG advances (12.10.2023)
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Journal Article
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)
Grandemange, Sylvie, Sanchez, Elodie, Louis-Plence, Pascale, Tran Mau-Them, Frédéric, Bessis, Didier, Coubes, Christine, Frouin, Eric, Seyger, Marieke, Girard, Manon, Puechberty, Jacques, Costes, Valérie, Rodière, Michel, Carbasse, Aurélia, Jeziorski, Eric, Portales, Pierre, Sarrabay, Guillaume, Mondain, Michel, Jorgensen, Christian, Apparailly, Florence, Hoppenreijs, Esther, Touitou, Isabelle, Geneviève, David
Published in Annals of the rheumatic diseases (01.07.2017)
Published in Annals of the rheumatic diseases (01.07.2017)
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Journal Article
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
Nambot, Sophie, Thevenon, Julien, Kuentz, Paul, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Lefebvre, Mathilde, Vabres, Pierre, El Chehadeh-Djebbar, Salima, Philippe, Christophe, Tran Mau-Them, Frederic, St-Onge, Judith, Jouan, Thibaud, Chevarin, Martin, Poé, Charlotte, Carmignac, Virginie, Vitobello, Antonio, Callier, Patrick, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel
Published in Genetics in medicine (01.06.2018)
Published in Genetics in medicine (01.06.2018)
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Journal Article
Atypical phenotype of a patient with Bardet–Biedl syndrome type 4
Sloboda, Natacha, Lambert, Laetitia, Ciorna, Viorica, Bruel, Ange‐Line, Tran Mau‐Them, Frédéric, Gomola, Vladimir, Lemelle, Jean‐Louis, Klein, Olivier, Camoin‐Schweitzer, Marie‐Christine, Magnavacca, Marie, Legagneur, Carole, Ezsto, Marie‐Laure, Bonnet, Céline, Philippe, Christophe, Leheup, Bruno
Published in Molecular genetics & genomic medicine (01.05.2022)
Published in Molecular genetics & genomic medicine (01.05.2022)
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Journal Article
Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases
Tran Mau‐Them, Frederic, Duffourd, Yannis, Vitobello, Antonio, Bruel, Ange‐Line, Denommé‐Pichon, Anne‐Sophie, Nambot, Sophie, Delanne, Julian, Moutton, Sebastien, Sorlin, Arthur, Couturier, Victor, Bourgeois, Valentin, Chevarin, Martin, Poe, Charlotte, Mosca‐Boidron, Anne‐Laure, Callier, Patrick, Safraou, Hana, Faivre, Laurence, Philippe, Christophe, Thauvin‐Robinet, Christel
Published in Molecular genetics & genomic medicine (01.12.2021)
Published in Molecular genetics & genomic medicine (01.12.2021)
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Journal Article
The molecular and phenotypic spectrum of IQSEC2‐related epilepsy
Zerem, Ayelet, Haginoya, Kazuhiro, Lev, Dorit, Blumkin, Lubov, Kivity, Sara, Linder, Ilan, Shoubridge, Cheryl, Palmer, Elizabeth Emma, Field, Michael, Boyle, Jackie, Chitayat, David, Gaillard, William D., Kossoff, Eric H., Willems, Marjolaine, Geneviève, David, Tran‐Mau‐Them, Frederic, Epstein, Orna, Heyman, Eli, Dugan, Sarah, Masurel‐Paulet, Alice, Piton, Ame'lie, Kleefstra, Tjitske, Pfundt, Rolph, Sato, Ryo, Tzschach, Andreas, Matsumoto, Naomichi, Saitsu, Hirotomo, Leshinsky‐Silver, Esther, Lerman‐Sagie, Tally
Published in Epilepsia (Copenhagen) (01.11.2016)
Published in Epilepsia (Copenhagen) (01.11.2016)
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Journal Article
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D
Tharreau, Mylène, Garde, Aurore, Marlin, Sandrine, Morel, Godelieve, Ernest, Sylvain, Nambot, Sophie, Duffourd, Yannis, Ternoy, Ninon, Duvillard, Christian, Banka, Siddharth, Philippe, Christophe, Thauvin‐Robinet, Christel, Mau‐Them, Frederic Tran, Faivre, Laurence
Published in American journal of medical genetics. Part A (01.05.2022)
Published in American journal of medical genetics. Part A (01.05.2022)
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Journal Article
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants
Sewani, Soha, Azamian, Mahshid S., Mendelsohn, Bryce A., Mau‐Them, Frederic Tran, Réda, Manon, Nambot, Sophie, Isidor, Bertrand, Smagt, Jasper J., Shen, Joseph J., Shillington, Amelle, White, Lori, Elloumi, Houda Zghal, Baker, Peter R., Svihovec, Shayna, Brown, Kathleen, Koopman‐Keemink, Yvonne, Hoffer, Mariette J. V., Lakeman, Inge M. M., Brischoux‐Boucher, Elise, Kinali, Maria, Zhao, Xiaonan, Lalani, Seema R., Scott, Daryl A.
Published in American journal of medical genetics. Part A (01.03.2024)
Published in American journal of medical genetics. Part A (01.03.2024)
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Journal Article
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia
Lines, Matthew A., Goldenberg, Paula, Wong, Ashley, Srivastava, Siddharth, Bayat, Allan, Hove, Hanne, Karstensen, Helena Gásdal, Anyane‐Yeboa, Kwame, Liao, Jun, Jiang, Nan, May, Alison, Guzman, Edwin, Morleo, Manuela, D'Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Castello, Raffaele, McKee, Shane, Ong, Jinfon, Zibdeh‐Lough, Hana, Tran‐Mau‐Them, Frederic, Gerasimenko, Anna, Heron, Delphine, Keren, Boris, Margot, Henri, Sainte Agathe, Jean‐Madeleine, Burglen, Lydie, Voets, Thomas, Vriens, Joris, Innes, A. Micheil, Dyment, David A.
Published in American journal of medical genetics. Part A (01.06.2022)
Published in American journal of medical genetics. Part A (01.06.2022)
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Journal Article
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
Tran Mau-Them, Frederic, Moutton, Sebastien, Racine, Caroline, Vitobello, Antonio, Bruel, Ange-Line, Nambot, Sophie, Kushner, Steven A., de Vrij, Femke M. S., Lehalle, Daphné, Jean-Marçais, Nolwenn, Lecoquierre, François, Delanne, Julian, Thevenon, Julien, Poe, Charlotte, Jouan, Thibaut, Chevarin, Martin, Geneviève, David, Willems, Marjolaine, Coubes, Christine, Houcinat, Nada, Masurel-Paulet, Alice, Mosca-Boidron, Anne-Laure, Tisserant, Emilie, Callier, Patrick, Sorlin, Arthur, Duffourd, Yannis, Faivre, Laurence, Philippe, Christophe, Thauvin-Robinet, Christel
Published in Human genetics (01.11.2020)
Published in Human genetics (01.11.2020)
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Journal Article
2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases
Bruel, Ange-Line, Vitobello, Antonio, Mau-Them, Frédéric Tran, Nambot, Sophie, Duffourd, Yannis, Quéré, Virginie, Kuentz, Paul, Garret, Philippine, Thevenon, Julien, Moutton, Sébastien, Lehalle, Daphné, Jean-Marçais, Nolwenn, Garde, Aurore, Delanne, Julian, Lefebvre, Mathilde, Lecoquierre, François, Trost, Detlef, Cho, Megan, Begtrup, Amber, Telegrafi, Aida, Vabres, Pierre, Mosca-Boidron, Anne-Laure, Callier, Patrick, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel
Published in Genetics in medicine (01.07.2019)
Published in Genetics in medicine (01.07.2019)
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Journal Article
Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly
Uguen, Kévin, Krysiak, Kilannin, Audebert‐Bellanger, Séverine, Redon, Sylvia, Benech, Caroline, Viora‐Dupont, Eléonore, Tran Mau‐Them, Frederic, Rondeau, Sophie, Elsharkawi, Ibrahim, Granadillo, Jorge L., Neidich, Julie, Soares, Celia Azevedo, Tkachenko, Natáliya, M. Amudhavalli, Shivarajan, Engleman, Kendra, Boland, Anne, Deleuze, Jean‐François, Bezieau, Stéphane, Odent, Sylvie, Toutain, Annick, Bonneau, Dominique, Gilbert‐Dussardier, Brigitte, Faivre, Laurence, Rio, Marlène, Le Marechal, Cedric, Ferec, Claude, Repnikova, Elena, Cao, Yang
Published in Clinical genetics (01.10.2021)
Published in Clinical genetics (01.10.2021)
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Journal Article