日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies

CHD3相关Snijders-Blok-Campeau综合征表观遗传特征的鉴定揭示了CHARGE综合征表观遗传特征的异质性:朝着更好地表征染色质病变迈进

Santini, Amandine; Tognon, Angelo; Richard, Anne-Claire; Velasco, Guillaume; Phan, Gilles; Marzin, Pauline; Maury, Fabien; May, Angele; Michot, Caroline; Chirita-Emandi, Adela; Saraiva, Jorge M; Ballesta-Martinez, Maria Juliana; Lyonnet, Stanislas; Sansović, Ivona; Barakat, Tahsin Stefan; Brunelle, Perrine; Ghoumid, Jamal; Le Guillou, Xavier; Le Tanno, Pauline; Willems, Marjolaine; Zenker, Martin; Schanze, Ina; Moortgat, Stéphanie; Isidor, Bertrand; Paulet, Alix; Yeung, Alison; Levy, Jonathan; Ruscitti, Federica; Pias-Peleteiro, Leticia; Rio, Marlène; Courtin, Thomas; Abdallah, Hamza Hadj; Ducreux, Stéphanie; Laloy, Jean-Sérène; Rollier, Paul; Guerrot, Anne-Marie; Chatron, Nicolas; Demurger, Florence; Goldenberg, Alice; Delanne, Julian; Faivre, Laurence; Lecoquierre, François; Nicolas, Gaël; Coussement, Aurélie; Collet, Corinne; Herenger, Yvan; Defrance, Matthieu; Cormier-Daire, Valérie; Charbonnier, Camille; de Dieuleveult, Maud

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

关于“CERT1突变通过破坏鞘脂稳态扰乱人类发育”一文的更正

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marija; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

CERT1基因突变通过破坏鞘脂稳态来扰乱人类发育。

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marjia; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

PRMT7双等位基因致病变异与一种可识别的综合征性神经发育障碍相关,其特征为身材矮小、肥胖以及颅面和手指异常。

Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K; Wigby, Kristen M; Baralle, Diana; Mehrjardi, Mohammad Y V; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, François; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E; Ercan-Sencicek, A Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C; Redman, Melody; Stegmann, Alexander P A; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Müller, Amelie Johanna; Digilio, Maria C; Rauch, Anita; Gunel, Murat; Titheradge, Hannah; Schweitzer, Daniela N; Kraus, Alison; Valenzuela, Irene; McLean, Scott D; Phornphutkul, Chanika; Salih, Mustafa; Begtrup, Amber; Schnur, Rhonda E; Torti, Erin; Haack, Tobias B; Prada, Carlos E; Alkuraya, Fowzan S; Houlden, Henry; Maroofian, Reza

A Novel WARS2 Mutation in a Swiss Family With Predominant Generalized Dystonia Responsive to Trihexyphenidyl

瑞士一个家族中发现一种新的WARS2基因突变,该家族以全身性肌张力障碍为主,对苯海索治疗有反应。

Mihaylova, Violeta; Herenger, Yvan; Bethge, Tobias; Bohlhalter, Stephan

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants

OMIXCARE:组学技术解决了约 33% 的患有异质性罕见神经发育障碍且外显子组测序结果为阴性的患者的问题,并识别出 13% 的额外候选变异。

Colin, Estelle; Duffourd, Yannis; Tisserant, Emilie; Relator, Raissa; Bruel, Ange-Line; Tran Mau-Them, Frédéric; Denommé-Pichon, Anne-Sophie; Safraou, Hana; Delanne, Julian; Jean-Marçais, Nolwenn; Keren, Boris; Isidor, Bertrand; Vincent, Marie; Mignot, Cyril; Heron, Delphine; Afenjar, Alexandra; Heide, Solveig; Faudet, Anne; Charles, Perrine; Odent, Sylvie; Herenger, Yvan; Sorlin, Arthur; Moutton, Sébastien; Kerkhof, Jennifer; McConkey, Haley; Chevarin, Martin; Poë, Charlotte; Couturier, Victor; Bourgeois, Valentin; Callier, Patrick; Boland, Anne; Olaso, Robert; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Faivre, Laurence; Deleuze, Jean-François; Vitobello, Antonio

Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient

瑞士一名患者因MYO18B基因的新型截断突变而导致先天性肌病

Mihaylova, Violeta; Chablais, Fabian; Herenger, Yvan; Spiegel, Roland; Heinrich Jung, Hans

Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients

早期治疗苯丙酮尿症患者认知结果的决定因素:一项针对39名儿科患者的研究

Herenger, Yvan; Maes, Emmanuelle; François, Laurent; Pasco, Jeremy; Bouchereau, Juliette; Pichard, Samia; Ogier de Baulny, Hélène; Schiff, Manuel

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

20年后:通过靶向高通量测序,在一个行为和认知能力改变的家族中发现了MAOA基因的第二个突变

Piton, Amélie; Poquet, Hélène; Redin, Claire; Masurel, Alice; Lauer, Julia; Muller, Jean; Thevenon, Julien; Herenger, Yvan; Chancenotte, Sophie; Bonnet, Marlène; Pinoit, Jean-Michel; Huet, Frédéric; Thauvin-Robinet, Christel; Jaeger, Anne-Sophie; Le Gras, Stéphanie; Jost, Bernard; Gérard, Bénédicte; Peoc'h, Katell; Launay, Jean-Marie; Faivre, Laurence; Mandel, Jean-Louis

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

利用靶向高通量测序进行智力障碍分子诊断的有效策略

Redin, Claire; Gérard, Bénédicte; Lauer, Julia; Herenger, Yvan; Muller, Jean; Quartier, Angélique; Masurel-Paulet, Alice; Willems, Marjolaine; Lesca, Gaétan; El-Chehadeh, Salima; Le Gras, Stéphanie; Vicaire, Serge; Philipps, Muriel; Dumas, Michaël; Geoffroy, Véronique; Feger, Claire; Haumesser, Nicolas; Alembik, Yves; Barth, Magalie; Bonneau, Dominique; Colin, Estelle; Dollfus, Hélène; Doray, Bérénice; Delrue, Marie-Ange; Drouin-Garraud, Valérie; Flori, Elisabeth; Fradin, Mélanie; Francannet, Christine; Goldenberg, Alice; Lumbroso, Serge; Mathieu-Dramard, Michèle; Martin-Coignard, Dominique; Lacombe, Didier; Morin, Gilles; Polge, Anne; Sukno, Sylvie; Thauvin-Robinet, Christel; Thevenon, Julien; Doco-Fenzy, Martine; Genevieve, David; Sarda, Pierre; Edery, Patrick; Isidor, Bertrand; Jost, Bernard; Olivier-Faivre, Laurence; Mandel, Jean-Louis; Piton, Amélie