Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies

by Uwineza, Annette, Hitayezu, Janvier, Jamar, Mauricette, Caberg, Jean-Hubert, Murorunkwere, Seraphine, Janvier, Ndinkabandi, Bours, Vincent, Mutesa, Leon
Published in J Trop Pediatr (2016)

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

by Beckers, Pablo, Caberg, Jean-Hubert, Dideberg, Vinciane, Dangouloff, Tamara, den Dunnen, Johan T., Bours, Vincent, Servais, Laurent, Boemer, François
Published in Sci Rep (2021)

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

by Uwineza, Annette, Caberg, Jean-Hubert, Hitayezu, Janvier, Hellin, Anne Cecile, Jamar, Mauricette, Dideberg, Vinciane, Rusingiza, Emmanuel K, Bours, Vincent, Mutesa, Leon
Published 2014

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

by Dorboz, Imen, Coutelier, Marie, Bertrand, Anne T, Caberg, Jean-Hubert, Elmaleh-Bergès, Monique, Lainé, Jeanne, Stevanin, Giovanni, Bonne, Gisèle, Boespflug-Tanguy, Odile, Servais, Laurent
Published in Orphanet J Rare Dis (2014)

Pattern of congenital heart diseases in Rwandan children with genetic defects

by Teteli, Raissa, Uwineza, Annette, Butera, Yvan, Hitayezu, Janvier, Murorunkwere, Seraphine, Umurerwa, Lamberte, Ndinkabandi, Janvier, Hellin, Anne-Cécile, Jamar, Mauricette, Caberg, Jean-Hubert, Muganga, Narcisse, Mucumbitsi, Joseph, Rusingiza, Emmanuel Kamanzi, Mutesa, Leon
Published in Pan Afr Med J (2014)

GPR101 Mutations are not a frequent cause of Congenital Isolated Growth Hormone Deficiency

by Castinetti, Frederic, Daly, Adrian F., Stratakis, Constantine A., Caberg, Jean-Hubert, Castermans, Emilie, Trivellin, Giampaolo, Rostomyan, Liliya, Saveanu, Alexandru, Jullien, Nicolas, Reynaud, Rachel, Barlier, Anne, Bours, Vincent, Brue, Thierry, Beckers, Albert
Published in Horm Metab Res (2016)

Transcriptome-wide analysis of natural antisense transcripts shows their potential role in breast cancer

by Wenric, Stephane, ElGuendi, Sonia, Caberg, Jean-Hubert, Bezzaou, Warda, Fasquelle, Corinne, Charloteaux, Benoit, Karim, Latifa, Hennuy, Benoit, Frères, Pierre, Collignon, Joëlle, Boukerroucha, Meriem, Schroeder, Hélène, Olivier, Fabrice, Jossa, Véronique, Jerusalem, Guy, Josse, Claire, Bours, Vincent
Published in Sci Rep (2017)

Growth Hormone Releasing Hormone Excess and Blockade in X-LAG Syndrome

by Daly, Adrian F., Lysy, Philippe A., Desfilles, Céline, Rostomyan, Liliya, Mohamed, Amira, Caberg, Jean-Hubert, Raverot, Veronique, Castermans, Emilie, Marbaix, Etienne, Maiter, Dominique, Brunelle, Chloe, Trivellin, Giampaolo, Stratakis, Constantine A., Bours, Vincent, Raftopoulos, Christian, Beauloye, Veronique, Barlier, Anne, Beckers, Albert
Published in Endocr Relat Cancer (2015)

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

by Jønch, Aia Elise, Douard, Elise, Moreau, Clara, Van Dijck, Anke, Passeggeri, Marzia, Kooy, Frank, Puechberty, Jacques, Campbell, Carolyn, Sanlaville, Damien, Lefroy, Henrietta, Richetin, Sonia, Pain, Aurelie, Geneviève, David, Kini, Usha, Le Caignec, Cédric, Lespinasse, James, Skytte, Anne-Bine, Isidor, Bertrand, Zweier, Christiane, Caberg, Jean-Hubert, Delrue, Marie-Ange, Møller, Rikke Steensbjerre, Bojesen, Anders, Hjalgrim, Helle, Brasch-Andersen, Charlotte, Lemyre, Emmanuelle, Ousager, Lilian Bomme, Jacquemont, Sébastien
Published in J Med Genet (2019)

Somatic Mosaicism Underlies X-linked Acrogigantism (XLAG) Syndrome in Sporadic Male Subjects

by Daly, Adrian F., Yuan, Bo, Fina, Frederic, Caberg, Jean-Hubert, Trivellin, Giampaolo, Rostomyan, Liliya, de Herder, Wouter W., Naves, Luciana A., Metzger, Daniel, Cuny, Thomas, Rabl, Wolfgang, Shah, Nalini, Jaffrain-Rea, Marie-Lise, Zatelli, Maria Chiara, Faucz, Fabio R, Castermans, Emilie, Nanni-Metellus, Isabelle, Lodish, Maya, Muhammad, Ammar, Palmeira, Leonor, Potorac, Iulia, Mantovani, Giovanna, Neggers, Sebastian J., Klein, Marc, Barlier, Anne, Liu, Pengfei, Ouafik, L'Houcine, Bours, Vincent, Lupski, James R., Stratakis, Constantine A., Beckers., Albert
Published in Endocr Relat Cancer (2016)

X-linked Acrogigantism (X-LAG) Syndrome: Clinical Profile and Therapeutic Responses

by Beckers, Albert, Lodish, Maya Beth, Trivellin, Giampaolo, Rostomyan, Liliya, Lee, Misu, Faucz, Fabio R, Yuan, Bo, Choong, Catherine S, Caberg, Jean-Hubert, Verrua, Elisa, Naves, Luciana Ansaneli, Cheetham, Tim D, Young, Jacques, Lysy, Philippe A, Petrossians, Patrick, Cotterill, Andrew, Shah, Nalini Samir, Metzger, Daniel, Castermans, Emilie, Ambrosio, Maria Rosaria, Villa, Chiara, Strebkova, Natalia, Mazerkina, Nadia, Gaillard, Stéphan, Barra, Gustavo Barcelos, Casulari, Luis Augusto, Neggers, Sebastian J., Salvatori, Roberto, Jaffrain-Rea, Marie-Lise, Zacharin, Margaret, Santamaria, Beatriz Lecumberri, Zacharieva, Sabina, Lim, Ee Mun, Mantovani, Giovanna, Zatelli, Maria Chaira, Collins, Michael T, Bonneville, Jean-François, Quezado, Martha, Chittiboina, Prashant, Oldfield, Edward H., Bours, Vincent, Liu, Pengfei, De Herder, Wouter, Pellegata, Natalia, Lupski, James R., Daly, Adrian F., Stratakis, Constantine A.
Published in Endocr Relat Cancer (2015)

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

by Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Paweł, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L., Mari, Francesca, Curró, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandarà, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Małgorzata J. M., Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, R. Frank, Isidor, Bertrand, Schwartz, Charles, Romano, Corrado, Sistermans, Erik, Amor, David J., Andrieux, Joris, Girirajan, Santhosh
Published in Genet Med (2018)

Clinical and Genetic Characterization of Pituitary Gigantism: An International Collaborative Study in 208 Patients

by Rostomyan, Liliya, Daly, Adrian F, Petrossians, Patrick, Nachev, Emil, Lila, Anurag R, Lecoq, Anne-Lise, Santamaria, Beatriz Lecumberri, Trivellin, Giampaolo, Salvatori, Roberto, Moraitis, Andreas, Holdaway, Ian MacMurray, Kranenburg, Dianne, Zatelli, Maria Chiara, García, Nuria Palacios, Nozieres, Cecile, Zacharin, Margaret, Ebeling, Tapani, Ojaniemi, Marja, Rozhinskaya, Liudmila, Verrua, Elisa, Jaffrain-Rea, Marie-Lise, Filipponi, Silvia, Gusakova, Daria, Pronin, Vyacheslav, Bertherat, Jerome Yves, Belaya, Zhanna, Ilovaiskaya, Irena, Sahnoun-Fathallah, Mona, Jung-Sievers, Caroline, Stalla, Gunter K., Castermans, Emilie, Caberg, Jean-Hubert, Sorkina, Ekaterina, Auriemma, Renata Simona, Mittal, Sachin, Kareva, Maria, Lysy, Philippe A., Emy, Philippe, De Menis, Ernesto, Choong, Catherine S., Mantovani, Giovanna, Bours, Vincent, De Herder, Wouter, Brue, Thierry, Barlier, Anne, Neggers, Sebastian JCMM, Zacharieva, Sabina, Chanson, Philippe, Shah, Nalini Samir, Stratakis, Constantine A., Naves, Luciana A., Beckers, Albert M
Published in Endocr Relat Cancer (2015)