Reproduction, Smell, and Neurodevelopmental Disorders: Genetic Defects in Different Hypogonadotropic Hypogonadal Syndromes

af Valdes-Socin, Hernan, Rubio Almanza, Matilde, Tomé Fernández-Ladreda, Mariana, Debray, François Guillaume, Bours, Vincent, Beckers, Albert
Udgivet 2014

Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

af Harvengt, Julie, Wanty, Catherine, De Paepe, Boel, Sempoux, Christine, Revencu, Nicole, Smet, Joél, Van Coster, Rudy, Lissens, Willy, Seneca, Sara, Weekers, Laurent, Sokal, Etienne, Debray, François-Guillaume
Udgivet i Mol Genet Metab Rep (2014)

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

af El Chehadeh-Djebbar, Salima, Blair, Edward, Holder-Espinasse, Muriel, Moncla, Anne, Frances, Anne-Marie, Rio, Marlène, Debray, François-Guillaume, Rump, Patrick, Masurel-Paulet, Alice, Gigot, Nadège, Callier, Patrick, Duplomb, Laurence, Aral, Bernard, Huet, Frédéric, Thauvin-Robinet, Christel, Faivre, Laurence
Udgivet 2013

Kidney and vascular function in adult patients with hereditary fructose intolerance

af Simons, Nynke, Debray, François-Guillaume, Schaper, Nicolaas C., Feskens, Edith J.M., Hollak, Carla E.M., Bons, Judith A.P., Bierau, Jörgen, Houben, Alfons J.H.M., Schalkwijk, Casper G., Stehouwer, Coen D.A., Cassiman, David, Brouwers, Martijn C.G.J.
Udgivet i Mol Genet Metab Rep (2020)

Autosomal dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

af Ruaud, Lyse, Rice, Gillian I, Cabrol, Christelle, Piard, Juliette, Rodero, Mathieu, van Eyk, Lien, Boucher-Brischoux, Elise, de Noordhout, Alain Maertens, Maré, Ricardo, Scalais, Emmanuel, Pauly, Fernand, Debray, François-Guillaume, Dobyns, William, Uggenti, Carolina, Park, Ji Woo, Hur, Sun, Livingston, John H, Crow, Yanick J, Van Maldergem, Lionel
Udgivet i Hum Mutat (2018)

POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism

af Van Maldergem, Lionel, Besse, Arnaud, De Paepe, Boel, Blakely, Emma L., Appadurai, Vivek, Humble, Margaret M., Piard, Juliette, Craig, Kate, He, Langping, Hella, Pierre, Debray, François‐Guillaume, Martin, Jean‐Jacques, Gaussen, Marion, Laloux, Patrice, Stevanin, Giovanni, Van Coster, Rudy, Taylor, Robert W., Copeland, William C., Mormont, Eric, Bonnen, Penelope E.
Udgivet i Ann Clin Transl Neurol (2016)

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

af van Rijt, Willemijn J., Jager, Emmalie A., Allersma, Derk P., Aktuğlu Zeybek, A. Çiğdem, Bhattacharya, Kaustuv, Debray, François-Guillaume, Ellaway, Carolyn J., Gautschi, Matthias, Geraghty, Michael T., Gil-Ortega, David, Larson, Austin A., Moore, Francesca, Morava, Eva, Morris, Andrew A., Oishi, Kimihiko, Schiff, Manuel, Scholl-Bürgi, Sabine, Tchan, Michel C., Vockley, Jerry, Witters, Peter, Wortmann, Saskia B., van Spronsen, Francjan, Van Hove, Johan L. K., Derks, Terry G. J.
Udgivet i Genet Med (2020)

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

af Hilton, Emma, Johnston, Jennifer, Whalen, Sandra, Okamoto, Nobuhiko, Hatsukawa, Yoshikazu, Nishio, Juntaro, Kohara, Hiroshi, Hirano, Yoshiko, Mizuno, Seiji, Torii, Chiharu, Kosaki, Kenjiro, Manouvrier, Sylvie, Boute, Odile, Perveen, Rahat, Law, Caroline, Moore, Anthony, Fitzpatrick, David, Lemke, Johannes, Fellmann, Florence, Debray, François-Guillaume, Dastot-Le-Moal, Florence, Gerard, Marion, Martin, Josiane, Bitoun, Pierre, Goossens, Michel, Verloes, Alain, Schinzel, Albert, Bartholdi, Deborah, Bardakjian, Tanya, Hay, Beverly, Jenny, Kim, Johnston, Kathreen, Lyons, Michael, Belmont, John W, Biesecker, Leslie G, Giurgea, Irina, Black, Graeme
Udgivet 2009

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

af Lausberg, Eva, Gießelmann, Sebastian, Dewulf, Joseph P., Wiame, Elsa, Holz, Anja, Salvarinova, Ramona, van Karnebeek, Clara D., Klemm, Patricia, Ohl, Kim, Mull, Michael, Braunschweig, Till, Weis, Joachim, Sommer, Clemens J., Demuth, Stephanie, Haase, Claudia, Stollbrink-Peschgens, Claudia, Debray, François-Guillaume, Libioulle, Cecile, Choukair, Daniela, Oommen, Prasad T., Borkhardt, Arndt, Surowy, Harald, Wieczorek, Dagmar, Wagner, Norbert, Meyer, Robert, Eggermann, Thomas, Begemann, Matthias, Van Schaftingen, Emile, Häusler, Martin, Tenbrock, Klaus, van den Heuvel, Lambert, Elbracht, Miriam, Kurth, Ingo, Kraft, Florian
Udgivet i J Clin Invest (2021)

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

af Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S., Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I., Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G., Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O. M., Wilson, Louise, Yuen, Amy, Study, DDD, Low, Karen J., Newbury-Ecob, Ruth A.
Udgivet i Eur J Hum Genet (2017)

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

af Balasubramanian, Meena, Dingemans, Alexander J. M., Albaba, Shadi, Richardson, Ruth, Yates, Thabo M., Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H., Burke, Katherine B., Fry, Andrew E., Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S., Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K., Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M., Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske
Udgivet i Eur J Hum Genet (2021)

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

af Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Eyck, Lien Van, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, de Villemeur, Thierry Billette, Bley, Annette E., Blumkin, Lubov, Boespflug-Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François-Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Hagelsrum, Gunilla Drake af, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie-Christine, Oppermann, Ilena, Pérez-Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Haren, Keith Van, Vila, Miguel Tomas, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.
Udgivet i Hum Mutat (2020)