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1
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders 미리보기

학술저널

issue
European Journal of Human Genetics. 32(2):190-199
Author
Husson, ThomasAff1, Aff2
Lecoquierre, François
Nicolas, Gaël
Richard, Anne-Claire
Afenjar, Alexandra
Audebert-Bellanger, Séverine
Badens, Catherine
Bilan, Frédéric
Bizaoui, Varoona
Boland, Anne
Bonnet-Dupeyron, Marie-Noëlle
Brischoux-Boucher, Elise
Bonnet, CélineAff12, Aff13
Bournez, Marie
Boute, Odile
Brunelle, Perrine
Caumes, Roseline
Charles, Perrine
Chassaing, Nicolas
Chatron, NicolasAff19, Aff20
Cogné, BenjaminAff21, Aff22
Colin, Estelle
Cormier-Daire, ValérieAff24, Aff25
Dard, Rodolphe
Dauriat, Benjamin
Delanne, JulianAff28, Aff29
Deleuze, Jean-François
Demurger, Florence
Denommé-Pichon, Anne-SophieAff29, Aff31
Depienne, Christel
Dieux, Anne
Dubourg, ChristèleAff33, Aff34
Edery, PatrickAff19, Aff35
El Chehadeh, SalimaAff36, Aff37, Aff38
Faivre, LaurenceAff28, Aff29
Fergelot, Patricia
Fradin, Mélanie
Garde, AuroreAff28, Aff29
Geneviève, DavidAff41, Aff42
Gilbert-Dussardier, Brigitte
Goizet, CyrilAff44, Aff45
Goldenberg, Alice
Gouy, EvanAff19, Aff46
Guerrot, Anne-Marie
Guimier, Anne
Harzalla, Inès
Héron, Delphine
Isidor, BertrandAff21, Aff22
Lacombe, Didier
Le Guillou Horn, XavierAff50, Aff51
Keren, Boris
Kuechler, Alma
Lacaze, Elodie
Lavillaureix, Alinoë
Lehalle, Daphné
Lesca, Gaëtan
Lespinasse, James
Levy, Jonathan
Lyonnet, StanislasAff57, Aff58
Morel, Godeliève
Jean-Marçais, Nolwenn
Marlin, Sandrine
Marsili, Luisa
Mignot, Cyril
Nambot, Sophie
Nizon, MathildeAff21, Aff22
Olaso, Robert
Pasquier, Laurent
Perrin, Laurine
Petit, FlorenceAff15, Aff16
Pingault, VeroniqueAff61, Aff62
Piton, Amélie
Prieur, Fabienne
Putoux, AudreyAff19, Aff35
Planes, Marc
Odent, Sylvie
Quélin, Chloé
Quemener-Redon, SylviaAff5, Aff64, Aff65
Rama, Mélanie
Rio, Marlène
Rossi, MassimilianoAff19, Aff35
Schaefer, Elise
Rondeau, Sophie
Saugier-Veber, Pascale
Smol, ThomasAff16, Aff66
Sigaudy, Sabine
Touraine, Renaud
Mau-Them, Frederic TranAff29, Aff31
Trimouille, AurélienAff69, Aff70
Van Gils, Julien
Vanlerberghe, Clémence
Vantalon, Valérie
Vera, Gabriella
Vincent, MarieAff21, Aff22
Ziegler, Alban
Guillin, Olivier
Campion, Dominique
Charbonnier, CamilleAff72, IDs4143102301474x_cor98
DB Label
Database : Springer Nature Journals
원문보기
등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
2
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening 미리보기

학술저널

issue
In Genetics in Medicine May 2024 26(5)
Author
Nicolas, Gaël
Zaréa, Aline
Lacour, Morgane
Quenez, Olivier
Rousseau, Stéphane
Richard, Anne-Claire
Bonnevalle, Antoine
Schramm, Catherine
Olaso, Robert
Sandron, Florian
Boland, Anne
Deleuze, Jean-François
Andriuta, Daniela
Anthony, Pierre
Auriacombe, Sophie
Balageas, Anna-Chloé
Ballan, Guillaume
Barbay, Mélanie
Béjot, Yannick
Belliard, Serge
Benaiteau, Marie
Bennys, Karim
Bombois, Stéphanie
Boutoleau-Bretonnière, Claire
Branger, Pierre
Carlier, Jasmine
Cartz-Piver, Leslie
Cassagnaud, Pascaline
Ceccaldi, Mathieu-Pierre
Chauviré, Valérie
Chen, Yaohua
Cogez, Julien
Cognat, Emmanuel
Contegal-Callier, Fabienne
Corneille, Léa
Couratier, Philippe
Cretin, Benjamin
Crinquette, Charlotte
Dauriat, Benjamin
Dautricourt, Sophie
de la Sayette, Vincent
de Liège, Astrid
Deffond, Didier
Demurger, Florence
Deramecourt, Vincent
Derollez, Céline
Dionet, Elsa
Doco Fenzy, Martine
Dumurgier, Julien
Dutray, Anaïs
Etcharry-Bouyx, Frédérique
Formaglio, Maïté
Gabelle, Audrey
Gainche-Salmon, Anne
Godefroy, Olivier
Graber, Mathilde
Gregoire, Chloé
Grimaldi, Stephan
Gueniat, Julien
Gueriot, Claude
Guillet-Pichon, Virginie
Haffen, Sophie
Hanta, Cezara-Roxana
Hardy, Clémence
Hautecloque, Geoffroy
Heitz, Camille
Hourregue, Claire
Jonveaux, Thérèse
Jurici, Snejana
Koric, Lejla
Krolak-Salmon, Pierre
Lagarde, Julien
Lanoiselée, Hélène-Marie
Laurens, Brice
Le Ber, Isabelle
Le Guyader, Gwenaël
Leblanc, Amélie
Lebouvier, Thibaud
Levy, Richard
Lippi, Anaïs
Mackowiak, Marie-Anne
Magnin, Eloi
Marelli, Cecilia
Martinaud, Olivier
Maureille, Aurelien
Migliaccio, Raffaella
Milongo-Rigal, Emilie
Mohr, Sophie
Mollion, Hélène
Morin, Alexandre
Nivelle, Julia
Noiray, Camille
Olivieri, Pauline
Paquet, Claire
Pariente, Jérémie
Pasquier, Florence
Perron, Alexandre
Philippi, Nathalie
Planche, Vincent
Pouclet-Courtemanche, Hélène
Rafiq, Marie
Rollin-Sillaire, Adeline
Roué-Jagot, Carole
Saracino, Dario
Sarazin, Marie
Sauvée, Mathilde
Sellal, François
Teichmann, Marc
Thauvin, Christel
Thomas, Quentin
Tisserand, Camille
Turpinat, Cédric
Van Damme, Laurène
Vercruysse, Olivier
Villain, Nicolas
Wagemann, Nathalie
Charbonnier, Camille
Wallon, David
DB Label
Database : ScienceDirect
원문보기
등재 - SCOPUS  조회 - Impact Factor (JCR) 
5
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders 미리보기

학술저널

issue
EUROPEAN JOURNAL OF HUMAN GENETICS; OCT 23 2023, 10p.
Author
Husson, Thomas
Lecoquierre, Francois
Nicolas, Gael
Richard, Anne-Claire
Afenjar, Alexandra
Audebert-Bellanger, Severine
Badens, Catherine
Bilan, Frederic
Bizaoui, Varoona
Boland, Anne
Bonnet-Dupeyron, Marie-Noelle
Brischoux-Boucher, Elise
Bonnet, Celine
Bournez, Marie
Boute, Odile
Brunelle, Perrine
Caumes, Roseline
Charles, Perrine
Chassaing, Nicolas
Chatron, Nicolas
Cogne, Benjamin
Colin, Estelle
Cormier-Daire, Valerie
Dard, Rodolphe
Dauriat, Benjamin
Delanne, Julian
Deleuze, Jean-Francois
Demurger, Florence
Denomme-Pichon, Anne-Sophie
Depienne, Christel
Dieux, Anne
Dubourg, Christele
Edery, Patrick
El Chehadeh, Salima
Faivre, Laurence
Fergelot, Patricia
Fradin, Melanie
Garde, Aurore
Genevieve, David
Gilbert-Dussardier, Brigitte
Goizet, Cyril
Goldenberg, Alice
Gouy, Evan
Guerrot, Anne-Marie
Guimier, Anne
Harzalla, Ines
Heron, Delphine
Isidor, Bertrand
Lacombe, Didier
Horn, Xavier Le Guillou
Keren, Boris
Kuechler, Alma
Lacaze, Elodie
Lavillaureix, Alinoe
Lehalle, Daphne
Lesca, Gaetan
Lespinasse, James
Levy, Jonathan
Lyonnet, Stanislas
Morel, Godelieve
Jean-Marcais, Nolwenn
Marlin, Sandrine
Marsili, Luisa
Mignot, Cyril
Nambot, Sophie
Nizon, Mathilde
Olaso, Robert
Pasquier, Laurent
Perrin, Laurine
Petit, Florence
Pingault, Veronique
Piton, Amelie
Prieur, Fabienne
Putoux, Audrey
Planes, Marc
Odent, Sylvie
Quelin, Chloe
Quemener-Redon, Sylvia
Rama, Melanie
Rio, Marlene
Rossi, Massimiliano
Schaefer, Elise
Rondeau, Sophie
Saugier-Veber, Pascale
Smol, Thomas
Sigaudy, Sabine
Touraine, Renaud
Mau-Them, Frederic Tran
Trimouille, Aurelien
Van Gils, Julien
Vanlerberghe, Clemence
Vantalon, Valerie
Vera, Gabriella
Vincent, Marie
Ziegler, Alban
Guillin, Olivier
Campion, Dominique
Charbonnier, Camille
DB Label
Database : Science Citation Index Expanded
원문보기
등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR) 
6
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice 미리보기

학술저널

issue
SCIENCE ADVANCES; MAR 8 2023, 9 10, peade1463 16p.
Author
Sheppard, Sarah E.
Bryant, Laura
Wickramasekara, Rochelle N.
Vaccaro, Courtney
Robertson, Brynn
Hallgren, Jodi
Hulen, Jason
Watson, Cynthia J.
Faundes, Victor
Duffourd, Yannis
Lee, Pearl
Simon, M. Celeste
de la Cruz, Xavier
Padilla, Natalia
Flores-Mendez, Marco
Akizu, Naiara
Smiler, Jacqueline
Da Silva, Renata Pellegrino
Li, Dong
March, Michael
Diaz-Rosado, Abdias
de Barcelos, Isabella Peixoto
Choa, Zhao Xiang
Lim, Chin Yan
Dubourg, Christele
Journel, Hubert
Demurger, Florence
Mulhern, Maureen
Akman, Cigdem
Lippa, Natalle
Andrews, Marisa
Baldridge, Dustin
Constantino, John
Rauch, Anita
van Haeingen, Arie
Snoeck-Streef, Irina
Chow, Penny
Hing, Anne
Graham, John M., Jr.
Au, Margaret
Falvre, Laurence
Shen, Wel
Mao, Rong
Palumbos, Janice
Viskochil, David
Gahl, William
Tifft, Cynthia
Macnamara, Ellen
Hauser, Natalie
Miller, Rebecca
Maffeo, Jessica
Afenjar, Alexandra
Doummar, Diane
Keren, Boris
Arn, Pamela
Mackllin-Mantla, Sarah
Meerschaut, Ilse
Callewaert, Bert
Rels, Andre
Zweler, Christiane
Brewer, Carole
Saggar, Anand
Smeland, Marie F.
Kumar, Ajith
Elmslie, Frances
Deshpande, Charu
Nizon, Mathilde
Cogne, Benjamin
van Ierland, Yvette
Wilke, Martina
van Slegtenhorst, Marjon
Koudijs, Suzanne
Chen, Jin Yun
Dredge, David
Pler, Danielle
Wortmann, Saskia
Kamsteeg, Erik-Jann
Koch, Johannes
Haynes, Devon
Pollack, Lynda
Titheradge, Hannah
Ranguin, Kara
Denomme-Pichon, Anne-Sophie
Weber, Sacha
de la Fuente, Ruben Perez
del Pozo, Jaime Sanchez
Rosales, Jose Miguel Lezana
Joset, Pascal
Steindl, Katharina
Rauch, Ani
Mei, Davide
Mari, Francesco
Guerrini, Renzo
Lespinasse, James
Mau-Then, Frederic Tran
Philippe, Christophe
Dauriat, Benjamin
Raymond, Laure
Moutton, Sebastien
Cueto-Gonzalez, Anna M.
Tan, Tiong Yang
Mignot, Cyril
Grotto, Sarah
Renaldo, Florence
Drivas, Theodore G.
Hennessy, Laura
Raper, Anna
Parenti, Ilaria
Kaiser, Frank J.
Kuechler, Alma
Busk, Oyvind L.
Islam, Lily
Siedlik, Jacob A.
Henderson, Lindsay B.
Juusola, Jane
Person, Richard
Schnur, Rhonda E.
Vitobello, Antonio
Banka, Siddharth
Bhoj, Elizabeth J.
Stessman, Holly A. F.
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (AAAS)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR) 
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