Not logged in Share Save
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Celine; Alders, Marielle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogne, Benjamin; Cormier-Daire, Valerie; Delanne, Julian; Demaret, Tanguy; Denomme-Pichon, Anne-Sophie; Desir, Julie; Dubourg, Christele; Fradin, Melanie; Genevieve, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W.; Guichet, Agnes; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; Mcconkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clement; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W. E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frederic Tran; Trost, Detlef; van der Sluijs, Pleuntje J.; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle Share Save
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly Ghaffar, Amama; Akhter, Tehmeena; Stromme, Petter; Misceo, Doriana; Khan, Amjad; Frengen, Eirik; Umair, Muhammad; Isidor, Bertrand; Cogne, Benjamin; Khan, Asma A.; Bruel, Ange-Line; Sorlin, Arthur; Kuentz, Paul; Chiaverini, Christine; Innes, A. Micheil; Zech, Michael; Balaz, Marek; Havrankova, Petra; Jech, Robert; Ahmed, Zubair M.; Riazuddin, Sheikh; Riazuddin, Saima Share Save
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study) Viora-Dupont, Eleonore; Robert, Francoise; Chassagne, Aline; Pelissier, Aurore; Staraci, Stephanie; Sanlaville, Damien; Edery, Patrick; Lesca, Gaetan; Putoux, Audrey; Pons, Linda; Cadenes, Amandine; Baurand, Amandine; Sawka, Caroline; Bertolone, Geoffrey; Spetchian, Myrtille; Yousfi, Meriem; Salvi, Dominique; Gautier, Elodie; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Bruel, Ange-Line; Tran Mau-Them, Frederic; Faudet, Anne; Keren, Boris; Labalme, Audrey; Chatron, Nicolas; Abel, Carine; Dupuis-Girod, Sophie; Poisson, Alice; Buratti, Julien; Mignot, Cyril; Afenjar, Alexandra; Whalen, Sandra; Charles, Perrine; Heide, Solveig; Mouthon, Linda; Moutton, Sebastien; Sorlin, Arthur; Nambot, Sophie; Briffaut, Anne-Sophie; Asensio, Marie-Laure; Philippe, Christophe; Thauvin-Robinet, Christel; Heron, Delphine; Rossi, Massimiliano; Meunier-Bellard, Nicolas; Gargiulo, Marcela; Peyron, Christine; Binquet, Christine; Faivre, Laurence Share Save
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals Sabbagh, Quentin; Haghshenas, Sadegheh; Piard, Juliette; Trouve, Chloe; Amiel, Jeanne; Attie-Bitach, Tania; Balci, Tugce; Barat-Houari, Mouna; Belonis, Alyce; Boute, Odile; Brightman, Diana S.; Bruel, Ange-Line; Caraffi, Stefano Giuseppe; Chatron, Nicolas; Collet, Corinne; Dufour, William; Edery, Patrick; Fong, Chin-To; Fusco, Carlo; Gatinois, Vincent; Gouy, Evan; Guerrot, Anne-Marie; Heide, Solveig; Joshi, Aakash; Karp, Natalya; Keren, Boris; Lesieur-Sebellin, Marion; Levy, Jonathan; Levy, Michael A.; Lozano, Claire; Lyonnet, Stanislas; Margot, Henri; Marzin, Pauline; Mcconkey, Haley; Michaud, Vincent; Nicolas, Gael; Nizard, Mevyn; Paulet, Alix; Peluso, Francesca; Pernin, Vincent; Perrin, Laurence; Philippe, Christophe; Prasad, Chitra; Prasad, Madhavi; Relator, Raissa; Rio, Marlene; Rondeau, Sophie; Ruault, Valentin; Ruiz-Pallares, Nathalie; Sanchez, Elodie; Shears, Debbie; Siu, Victoria Mok; Sorlin, Arthur; Tedder, Matthew; Tharreau, Mylene; Mau-Them, Frederic Tran; Laan, Liselot van der; Van Gils, Julien; Verloes, Alain; Whalen, Sandra; Willems, Marjolaine; Yauy, Kevin; Zuntini, Roberta; Kerkhof, Jennifer; Sadikovic, Bekim; Genevieve, David Share Save
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome Courraud, Jeremie; Engel, Camille; Quartier, Angelique; Drouot, Nathalie; Houessou, Ursula; Plassard, Damien; Sorlin, Arthur; Brischoux-Boucher, Elise; Gouy, Evan; Van Maldergem, Lionel; Rossi, Massimiliano; Lesca, Gaetan; Edery, Patrick; Putoux, Audrey; Bilan, Frederic; Gilbert-Dussardier, Brigitte; Atallah, Isis; Kalscheuer, Vera M.; Mandel, Jean-Louis; Piton, Amelie Share Save
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases Racine, Caroline; Denomme-Pichon, Anne-Sophie; Engel, Camille; Mau-them, Frederic Tran; Bruel, Ange-Line; Vitobello, Antonio; Safraou, Hana; Sorlin, Arthur; Nambot, Sophie; Delanne, Julian; Garde, Aurore; Colin, Estelle; Moutton, Sebastien; Thevenon, Julien; Jean-Marcais, Nolwenn; Willems, Marjolaine; Genevieve, David; Pinson, Lucile; Perrin, Laurence; Laffargue, Fanny; Lespinasse, James; Lacaze, Elodie; Molin, Arnaud; Gerard, Marion; Lambert, Laetitia; Benigni, Charlotte; Patat, Olivier; Bourgeois, Valentin; Poe, Charlotte; Chevarin, Martin; Couturier, Victor; Garret, Philippine; Philippe, Christophe; Duffourd, Yannis; Faivre, Laurence; Thauvin-Robinet, Christel Share Save
Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters Coudert, Alicia; Cazin, Caroline; Amiri-Yekta, Amir; Ben Mustapha, Selima Fourati; Zouari, Raoudha; Bessonat, Julien; Zoghmar, Abdelali; Clergeau, Antoine; Metzler-Guillemain, Catherine; Triki, Chema; Lejeune, Herve; Sermondade, Nathalie; Pipiras, Eva; Prisant, Nadia; Cedrin, Isabelle; Koscinski, Isabelle; Keskes, Leila; Lestrade, Florence; Hesters, Laetitia; Rives, Nathalie; Dorphin, Beatrice; Guichet, Agnes; Patrat, Catherine; Dulioust, Emmanuel; Feraille, Aurelie; Robert, Francois; Brouillet, Sophie; Morel, Frederic; Perrin, Aurore; Rougier, Nathalie; Bieth, Eric; Sorlin, Arthur; Siffroi, Jean-Pierre; Ben Khelifa, Mariem; Boiterelle, Florence; Hennebicq, Sylvianne; Satre, Veronique; Arnoult, Christophe; Coutton, Charles; Barbotin, Anne-Laure; Thierry-Mieg, Nicolas; Kherraf, Zine-Eddine; Ray, Pierre F. Share Save
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy Mattison, Kari A.; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M.; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E.; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George J.; Menendez, Beatriz; Hoganson, George E.; Botto, Lorenzo D.; Filloux, Francis M.; Aledo-Serrano, Angel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke E.; van der Zwaag, Bert; Aleck, Kyrieckos A.; Fazenbaker, Andrew C.; Balciuniene, Jorune; Dubbs, Holly A.; Marsh, Eric D.; Garber, Kathryn; Ek, Jakob; Duno, Morten; Hoei-Hansen, Christina E.; Deardorff, Matthew A.; Raca, Gordana; Quindipan, Catherine; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine Bjorg; Moller, Rikke S.; Whitney, Andrea; Douglas, Andrew G. L.; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie J.; Tao, James X.; Argilli, Emanuela; Sherr, Elliot H.; Dobyns, William B.; Baines, Richard A.; Warwicker, Jim; Parker, J. Alex; Banka, Siddharth; Campeau, Philippe M.; Escayg, Andrew Share Save
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? Bourgon, Nicolas; Garde, Aurore; Bruel, Ange-Line; Lefebvre, Mathilde; Mau-Them, Frederic Tran; Moutton, Sebastien; Sorlin, Arthur; Nambot, Sophie; Delanne, Julian; Chevarin, Martin; Poe, Charlotte; Thevenon, Julien; Lehalle, Daphne; Jean-Marcais, Nolween; Kuentz, Paul; Lambert, Laetitia; El Chehadeh, Salima; Schaefer, Elise; Willems, Marjolaine; Laffargue, Fanny; Francannet, Christine; Fradin, Melanie; Gaillard, Dominique; Blesson, Sophie; Goldenberg, Alice; Capri, Yline; Sagot, Paul; Rousseau, Thierry; Simon, Emmanuel; Binquet, Christine; Ascencio, Marie-Laure; Duffourd, Yannis; Philippe, Christophe; Faivre, Laurence; Vitobello, Antonio; Thauvin-Robinet, Christel Share Save
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs Share Save
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway Bourgon, N.; Carmignac, V; Sorlin, A.; Duffourd, Y.; Philippe, C.; Thauvin-Robinet, C.; Guibaud, L.; Faivre, L.; Vabres, P.; Kuentz, P. Share Save
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Olaso, Robert; Ziegler, Alban; Jeanne, Mederic; Mau-Them, Frederic Tran; Couturier, Victor; Racine, Caroline; Isidor, Bertrand; Poe, Charlotte; Jouan, Thibaud; Boland, Anne; Fin, Bertrand; Bacq-Daian, Delphine; Besse, Celine; Garde, Aurore; Prost, Adeline; Garret, Philippine; Tisserant, Emilie; Delanne, Julian; Nambot, Sophie; Juven, Aurelien; Gorce, Magali; Nizon, Mathilde; Vincent, Marie; Moutton, Sebastien; Fradin, Melanie; Lavillaureix, Alinoe; Rollier, Paul; Capri, Yline; Van-Gils, Julien; Busa, Tiffany; Sigaudy, Sabine; Pasquier, Laurent; Barth, Magalie; Bruel, Ange-Line; Flamant, Cyril; Prouteau, Clement; Bonneau, Dominique; Toutain, Annick; Chantegret, Corinne; Callier, Patrick; Philippe, Christophe; Duffourd, Yannis; Deleuze, Jean-Francois; Sorlin, Arthur; Faivre, Laurence; Thauvin-Robinet, Christel Share Save
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity Thomas, Quentin; Gautier, Thierry; Marafi, Dana; Besnard, Thomas; Willems, Marjolaine; Moutton, Sebastien; Isidor, Bertand; Cogne, Benjamin; Conrad, Solene; Tenconi, Romano; Iascone, Maria; Sorlin, Arthur; Masurel, Alice; Dabir, Tabib; Jackson, Adam; Banka, Siddharth; Delanne, Julian; Lupski, James R.; Saadi, Nebal Waill; Alkuraya, Fowzan S.; Zahrani, Fatema Al; Agrawal, Pankaj B.; England, Eleina; Madden, Jill A.; Posey, Jennifer E.; Burglen, Lydie; Rodriguez, Diana; Chevarin, Martin; Nguyen, Sylvie; Mau-Them, Frederic Tran; Duffourd, Yannis; Garret, Philippine; Bruel, Ange-Line; Callier, Patrick; Marle, Nathalie; Denomme-Pichon, Anne-Sophie; Duplomb, Laurence; Philippe, Christophe; Thauvin-Robinet, Christel; Govin, Jerome; Faivre, Laurence; Vitobello, Antonio Share Save
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics Thomas, Quentin; Vitobello, Antonio; Mau-Them, Frederic Tran; Duffourd, Yannis; Fromont, Agnes; Giroud, Maurice; Daubail, Benoit; Jacquin-Piques, Agnes; Hervieu-Begue, Marie; Moreau, Thibault; Osseby, Guy-Victor; Garret, Philippine; Nambot, Sophie; Delanne, Julian; Bruel, Ange-Line; Sorlin, Arthur; Callier, Patrick; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Bejot, Yannick; Philippe, Christophe; Thauvin-Robinet, Christelle; Moutton, Sebastien Share Save
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities Carmignac, Virginie; Mignot, Cyril; Blanchard, Emmanuelle; Kuentz, Paul; Aubriot-Lorton, Marie-Helene; Parker, Victoria E. R.; Sorlin, Arthur; Fraitag, Sylvie; Courcet, Jean-Benoit; Duffourd, Yannis; Rodriguez, Diana; Knox, Rachel G.; Polubothu, Satyamaanasa; Boland, Anne; Olaso, Robert; Delepine, Marc; Darmency, Veronique; Riachi, Melissa; Quelin, Chloe; Rollier, Paul; Goujon, Louise; Grotto, Sarah; Capri, Yline; Jacquemont, Marie-Line; Odent, Sylvie; Amram, Daniel; Chevarin, Martin; Vincent-Delorme, Catherine; Catteau, Benoit; Guibaud, Laurent; Arzimanoglou, Alexis; Keddar, Malika; Sarret, Catherine; Callier, Patrick; Bessis, Didier; Genevieve, David; Deleuze, Jean-Francois; Thauvin, Christel; Semple, Robert K.; Philippe, Christophe; Riviere, Jean-Baptiste; Kinsler, Veronica A.; Faivre, Laurence; Vabres, Pierre; Martin, Ludovic; Caux, Frederic; Puzenat, Eve; Lacombe, Didier; Taieb, Alain; Leaute-Labreze, Christine; Bardou, Marc; Thauvin-Robinet, Christel; Manouvrier, Sylvie; Edery, Patrick; Phan, Alice; Sigaudy, Sabine; Le Blay, Julie; Bursztejn, Anne-Claire; Barbarot, Sebastien; Bodemer, Christine; Cormier-Daire, Valerie; Chiaverini, Christine; Eschard, Catherine; Bourrat-Remy, Emmanuelle; Verloes, Alain; Lipsker, Dan; Mazereeuw-Hautier, Juliette; Maruani, Annabel; Guerrot, Anne-Marie; Duvert-Lehembre, Sophie Share Save
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities (Apr, 10.1038/s41436-021-01161-6, 2021) Carmignac, Virginie; Mignot, Cyril; Blanchard, Emmanuelle; Kuentz, Paul; Aubriot-Lorton, Marie-Helene; Parker, Victoria E. R.; Sorlin, Arthur; Fraitag, Sylvie; Courcet, Jean-Benoit; Duffourd, Yannis; Rodriguez, Diana; Knox, Rachel G.; Polubothu, Satyamaanasa; Boland, Anne; Olaso, Robert; Delepine, Marc; Darmency, Veronique; Riachi, Melissa; Quelin, Chloe; Rollier, Paul; Goujon, Louise; Grotto, Sarah; Capri, Yline; Jacquemont, Marie-Line; Odent, Sylvie; Amram, Daniel; Chevarin, Martin; Vincent-Delorme, Catherine; Catteau, Benoit; Guibaud, Laurent; Arzimanoglou, Alexis; Keddar, Malika; Sarret, Catherine; Callier, Patrick; Bessis, Didier; Genevieve, David; Deleuze, Jean-Francois; Thauvin, Christel; Semple, Robert K.; Philippe, Christophe; Riviere, Jean-Baptiste; Kinsler, Veronica A.; Faivre, Laurence; Vabres, Pierre Share Save
Expanding the clinical spectrum of mosaic BRAF skin phenotypes Sorlin, A.; Carmignac, V.; Amiel, J.; Boccara, O.; Fraitag, S.; Maruani, A.; Theiler, M.; Weibel, L.; Duffourd, Y.; Philippe, C.; Thauvin-Robinet, C.; Faivre, L.; Riviere, J. -B.; Vabres, P.; Kuentz, P. Share Save
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
