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DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective DNA甲基化表观签名用于Smith-Magenis和Potocki-Lupski综合征：镜像视角 van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Marielle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M.; DuPont, Barbara R.; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A.; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G.; Polstra, Abeltje M.; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A.; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M.; van der Kevie-kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M. 分享 收藏
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND 新发现的SCA42ND中影响Cav3.1通道细胞内闸门的de novo CACNA1G变异的特征分析，扩展了神经发育表型的谱系。 Qebibo, Leila; Davakan, Amael; Nesson-Dauphin, Mathilde; Boulali, Najlae; Siquier-Pernet, Karine; Afenjar, Alexandra; Amiel, Jeanne; Bartholdi, Deborah; Barth, Magalie; Blondiaux, Eleonore; Cristian, Ingrid; Frazier, Zoe; Goldenberg, Alice; Good, Jean-Marc; Salussolia, Catherine Lourdes; Sahin, Mustafa; McCullagh, Helen; McDonald, Kimberly; McRae, Anne; Morrison, Jennifer; Pinner, Jason; Shinawi, Marwan; Toutain, Annick; Vyhnalkova, Emilie; Wheeler, Patricia G.; Wilnai, Yael; Hausman-Kedem, Moran; Coolen, Marion; Cantagrel, Vincent; Burglen, Lydie; Lory, Philippe 分享 收藏
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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations Jeanne, Mederic; Ronce, Nathalie; Remize, Solene; Arpin, Stephanie; Baujat, Genevieve; Breton, Sylvain; Petit, Florence; Vanlerberghe, Clemence; Coeslier-Dieux, Anne; Manouvrier-Hanu, Sylvie; Vincent-Delorme, Catherine; Khau Van Kien, Philippe; Van-Gils, Julien; Quelin, Chloe; Pasquier, Laurent; Odent, Sylvie; Demurger, Florence; Laffargue, Fanny; Francannet, Christine; Martin-Coignard, Dominique; Afenjar, Alexandra; Whalen, Sandra; Verloes, Alain; Capri, Yline; Delahaye, Andree; Plaisancie, Julie; Labrune, Philippe; Destree, Anne; Maystadt, Isabelle; Ciorna Monferrato, Viorca; Isidor, Bertrand; Vincent, Marie; Jean Marcais, Nolwen; Nambot, Sophie; Schaefer, Elise; El Chehadeh, Salima; Lespinasse, James; Collignon, Patrick; Busa, Tiffany; Philip, Nicole; Willems, Marjolaine; Planes, Marc; Vanakker, Olivier M.; Lambert, Laetitia; Leheup, Bruno; Mathieu-Dramard, Michele; Morin, Gilles; Dieterich, Klaus; Ginglinger, Emmanuelle; Bayat, Allan; Balasubramanian, Meena; Dauriat, Benjamin; Haye, Damien; Amiel, Jeanne; Rio, Marlene; Cormier-Daire, Valerie; Toutain, Annick 分享 收藏
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability Cordovado, Amelie; Herenger, Yvan; Cormier, Coline; Lopez-Martin, Estrella; Stamberger, Hannah; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Abdallah, Hamza Hadj; Barcia, Giulia; Courtin, Thomas; Martinez-Delgado, Beatriz; Bermejo-Sanchez, Eva; Barrero, Maria J.; Gasser, Brooklynn; Bezieau, Stephane; Kury, Sebastien; Weckhuysen, Sarah; Laumonnier, Frederic; Toutain, Annick; Vuillaume, Marie-Laure 分享 收藏
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort Bahout, Marie; Severa, Gianmarco; Kamoun, Emna; Bouhour, Francoise; Pegat, Antoine; Toutain, Annick; Lagrange, Emmeline; Duval, Fanny; Tard, Celine; De la Cruz, Elisa; Feasson, Leonard; Jacquin-Piques, Agnes; Richard, Pascale; Metay, Corinne; Cavalli, Michele; Romero, Norma Beatriz; Evangelista, Teresinha; Sole, Guilhem; Carlier, Robert Yves; Laforet, Pascal; Acket, Blandine; Behin, Anthony; Fernandez-Eulate, Gorka; Leonard-Louis, Sarah; Quijano-Roy, Susana; Pereon, Yann; Salort-Campana, Emmanuelle; Nadaj-Pakleza, Aleksandra; Masingue, Marion; Malfatti, Edoardo; Stojkovic, Tanya; Villar-Quiles, Rocio Nur 分享 收藏
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (vol 3, 2024, 59) 更正: 神经发育和神经退行性疾病Bryant-li-bhoj综合征的扩展表型谱与38个额外的个体 (第3卷，2024，59) Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Klockner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; Mcdonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M. 分享 收藏
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gael; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariette J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-Jose H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Marielle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M. 分享 收藏
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Kloeckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; McDonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M. 分享 收藏
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses Ung, Devina C.; Pietrancosta, Nicolas; Badillo, Elena Baz; Raux, Brigitt; Tapken, Daniel; Zlatanovic, Andjela; Doridant, Adrien; Pode-Shakked, Ben; Raas-Rothschild, Annick; Elpeleg, Orly; Abu-Libdeh, Bassam; Hamed, Nasrin; Papon, Marie-Amelie; Marouillat, Sylviane; Thepault, Rose-Anne; Stevanin, Giovanni; Elegheert, Jonathan; Letellier, Mathieu; Hollmann, Michael; Lambolez, Bertrand; Tricoire, Ludovic; Toutain, Annick; Hepp, Regine; Laumonnier, Frederic 分享 收藏
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome Hennocq, Quentin; Willems, Marjolaine; Amiel, Jeanne; Arpin, Stephanie; Attie-Bitach, Tania; Bongibault, Thomas; Bouygues, Thomas; Cormier-Daire, Valerie; Corre, Pierre; Dieterich, Klaus; Douillet, Maxime; Feydy, Jean; Galliani, Eva; Giuliano, Fabienne; Lyonnet, Stanislas; Picard, Arnaud; Porntaveetus, Thantrira; Rio, Marlene; Rouxel, Flavien; Shotelersuk, Vorasuk; Toutain, Annick; Yauy, Kevin; Genevieve, David; Khonsari, Roman H.; Garcelon, Nicolas 分享 收藏
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders Riquin, Kevin; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Colin, Estelle; Bonneau, Dominique; Pasquier, Laurent; Odent, Sylvie; Le Guillou Horn, Xavier Maximin; Le Guyader, Gwenael; Toutain, Annick; Meyer, Vincent; Deleuze, Jean-Francois; Pichon, Olivier; Doco-Fenzy, Martine; Bezieau, Stephane; Cogne, Benjamin 分享 收藏
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Executive functioning in adolescents and adults with Silver-Russell syndrome Burgevin, Melissa; Lacroix, Agnes; Ollivier, Fanny; Bourdet, Karine; Coutant, Regis; Donadille, Bruno; Faivre, Laurence; Manouvrier-Hanu, Sylvie; Petit, Florence; Thauvin-Robinet, Christel; Toutain, Annick; Netchine, Irene; Odent, Sylvie 分享 收藏
Rare pathogenic variants in WNK3 cause X-linked intellectual disability WNK3中罕见的致病变异导致X连锁智力障碍 Kury, Sebastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie M.; Josiah, Sunday S.; Kiziltug, Emre; Denomme-Pichon, Anne-Sophie; Cogne, Benjamin; Kundishora, Adam J.; Hao, Le T.; Li, Hong; Stevenson, Roger E.; Louie, Raymond J.; Deb, Wallid; Torti, Erin; Vignard, Virginie; McWalter, Kirsty; Raymond, F. Lucy; Rajabi, Farrah; Ranza, Emmanuelle; Grozeva, Detelina; Coury, Stephanie A.; Blanc, Xavier; Brischoux-Boucher, Elise; Keren, Boris; Ounap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid M.; Barr, Eileen E.; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor G.; Monaghan, Kristin G.; Rio, Marlene; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy K.; Wilson, Ashley; Quinquis, Delphine; Breheret, Flora; Retterer, Kyle; Lindenbaum, Pierre; Scalais, Emmanuel; Rhodes, Lindsay; Stouffs, Katrien; Pereira, Elaine M.; Berger, Sara M.; Milla, Sarah S.; Jaykumar, Ankita B.; Cobb, Melanie H.; Panchagnula, Shreyas; Duy, Phan Q.; Vincent, Marie; Mercier, Sandra; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Audebert-Bellanger, Severine; Odent, Sylvie; Schmitt, Sebastien; Boisseau, Pierre; Bonneau, Dominique; Toutain, Annick; Colin, Estelle; Pasquier, Laurent; Redon, Richard; Bouman, Arjan; Rosenfeld, Jill A.; Friez, Michael J.; Perez-Pena, Helena; Rizvi, Syed Raza Akhtar; Haider, Shozeb; Antonarakis, Stylianos E.; Schwartz, Charles E.; Martinez, Francisco; Bezieau, Stephane; Kahle, Kristopher T.; Isidor, Bertrand 分享 收藏
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance Cordovado, Amelie; Schaettin, Martina; Jeanne, Mederic; Panasenkava, Veranika; Denomme-Pichon, Anne-Sophie; Keren, Boris; Mignot, Cyril; Doco-Fenzy, Martine; Rodan, Lance; Ramsey, Keri; Narayanan, Vinodh; Jones, Julie R.; Prijoles, Eloise J.; Mitchell, Wendy G.; Ozmore, Jillian R.; Juliette, Kali; Torti, Erin; Normand, Elizabeth A.; Granger, Leslie; Petersen, Andrea K.; Au, Margaret G.; Matheny, Juliann P.; Phornphutkul, Chanika; Chambers, Mary-Kathryn; Fernandez-Ramos, Joaquin-Alejandro; Lopez-Laso, Eduardo; Kruer, Michael C.; Bakhtiari, Somayeh; Zollino, Marcella; Morleo, Manuela; Marangi, Giuseppe; Mei, Davide; Pisano, Tiziana; Guerrini, Renzo; Louie, Raymond J.; Childers, Anna; Everman, David B.; Isidor, Betrand; Audebert-Bellanger, Severine; Odent, Sylvie; Bonneau, Dominique; Gilbert-Dussardier, Brigitte; Redon, Richard; Bezieau, Stephane; Laumonnier, Frederic; Stoeckli, Esther T.; Toutain, Annick; Vuillaume, Marie-Laure 分享 收藏
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder Kury, Sebastien; Ebstein, Frederic; Molle, Alice; Besnard, Thomas; Lee, Ming-Kang; Vignard, Virginie; Hery, Tiphaine; Nizon, Mathilde; Mancini, Grazia M. S.; Giltay, Jacques C.; Cogne, Benjamin; McWalter, Kirsty; Deb, Wallid; Mor-Shaked, Hagar; Li, Hong; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Denomme-Pichon, Anne-Sophie; Fourgeux, Cynthia; Verheijen, Frans W.; Faurie, Eva; Schot, Rachel; Stevens, Cathy A.; Smits, Daphne J.; Barr, Eileen; Sheffer, Ruth; Bernstein, Jonathan A.; Stimach, Chandler L.; Kovitch, Eliana; Shashi, Vandana; Schoch, Kelly; Smith, Whitney; van Jaarsveld, Richard H.; Hurst, Anna C. E.; Smith, Kirstin; Baugh, Evan H.; Bohm, Suzanne G.; Vyhnalkova, Emilie; Ryba, Lukas; Delnatte, Capucine; Neira, Juanita; Bonneau, Dominique; Toutain, Annick; Rosenfeld, Jill A.; Audebert-Bellanger, Severine; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Laumonnier, Frederic; Berger, Seth, I; Smith, Ann C. M.; Bourdeaut, Franck; Stern, Marc-Henri; Redon, Richard; Krueger, Elke; Margueron, Raphael; Bezieau, Stephane; Poschmann, Jeremie; Isidor, Bertrand 分享 收藏
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt Rouxel, Flavien; Yauy, Kevin; Boursier, Guilaine; Gatinois, Vincent; Barat-Houari, Mouna; Sanchez, Elodie; Lacombe, Didier; Arpin, Stephanie; Giuliano, Fabienne; Haye, Damien; Rio, Marlene; Toutain, Annick; Dieterich, Klaus; Brischoux-Boucher, Elise; Julia, Sophie; Nizon, Mathilde; Afenjar, Alexandra; Keren, Boris; Jacquette, Aurelia; Moutton, Sebastien; Jacquemont, Marie-Line; Duflos, Claire; Capri, Yline; Amiel, Jeanne; Blanchet, Patricia; Lyonnet, Stanislas; Sanlaville, Damien; Genevieve, David 分享 收藏
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