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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

The course of respiratory tract infections in pediatric hemato-oncology patients during and after the COVID-19 pandemic: single center retrospective cohort study

COVID-19 大流行期间及之后儿科血液肿瘤患者呼吸道感染的病程:单中心回顾性队列研究

Düzenli Kar, Yeter; Sağlık, İmran; Aksoy, Gökalp Rüstem; Ağca, Harun; Temuroğlu, Aytül; Mete, Cem Uğur; Sezgin Evim, Melike; Beygo, Büşra Safiye; Aydoğan, Ahmet İbrahim; Ödek, Çağlar; Çelebi, Solmaz; Hacımustafaoğlu, Mustafa; Özkaya, Güven; Meral Güneş, Adalet

No indications of weight gain associated DNA methylation changes in patients with anorexia nervosa

神经性厌食症患者中未发现与体重增加相关的DNA甲基化改变

Rajcsanyi, Luisa Sophie; Kesselmeier, Miriam; Schröder, Christopher; Schmelting, Carolin; Peters, Triinu; Föcker, Manuel; Kraft, Isabelle; Beygo, Jasmin; Leitão, Elsa; Zeschnigk, Michael; Giuranna, Johanna; Herpertz-Dahlmann, Beate; Seitz, Jochen; de Zwaan, Martina; Herzog, Wolfgang; Ehrlich, Stefan; Zipfel, Stephan; Giel, Katrin; Egberts, Karin; Burghardt, Roland; Budeus, Bettina; Hebebrand, Johannes; Horsthemke, Bernhard; Hinney, Anke

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

黏连蛋白装载亚基 MAU2 的致病性变异导致一种新的科内莉亚·德·兰格综合征亚型

Parenti, Ilaria; Hesters, Alina; Gil-Salvador, Marta; Duffy, Laura; Kanber, Deniz; Beygo, Jasmin; Kerkhof, Jennifer; Steenpaß, Laura; Leitão, Elsa; Woestefeld, Julia; Boone, Philip M; Kao, Emeline M; Alabdi, Lama; Aldhalaan, Hesham M; Alkuraya, Fowzan S; Alshammari, Muneera J; Antonarakis, Stylianos E; Basel, Donald; Cassinari, Kevin; de Polli Cellin, Laurana; Clause, Amanda R; de Lima Jorge, Alexander Augusto; de Castro Leal, Andréa; Collins, Stephan C; Durand, Benjamin; Eckhold, Juliane; Hashem, Mais O; Jayakar, Parul; Khan, Arif O; Kato, Kohji; Kubica, Regina; Lyon, Gholson J; Marchi, Elaine; McCarrier, Julie; Kimmig, Lara K; Mizuno, Seiji; Nicolas, Gael; Nishio, Yosuke; Ogi, Tomoo; Pié, Juan; Prell, Jordyn; Puisac, Beatriz; Ramos, Feliciano J; Ranza, Emmanuelle; Redin, Claire; Rush, Eric; Saitoh, Shinji; Shamseldin, Hanan E; Starling, Susan; Astiazaran-Symonds, Esteban; Taher, Sara; Kuechler, Alma; Sadikovic, Bekim; Yalcin, Binnaz; Wendt, Kerstin S; Kaiser, Frank J

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

多位点印记紊乱(MLID):临床和分子诊断临时联合声明

Mackay, Deborah J G; Gazdagh, Gabriella; Monk, David; Brioude, Frederic; Giabicani, Eloise; Krzyzewska, Izabela M; Kalish, Jennifer M; Maas, Saskia M; Kagami, Masayo; Beygo, Jasmin; Kahre, Tiina; Tenorio-Castano, Jair; Ambrozaitytė, Laima; Burnytė, Birutė; Cerrato, Flavia; Davies, Justin H; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I; Õunap, Katrin; Riccio, Andrea; de Nanclares, Guiomar Perez; Maher, Eamonn R; Lapunzina, Pablo; Netchine, Irène; Eggermann, Thomas; Bliek, Jet; Tümer, Zeynep

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

TASK3通道功能的获得和丧失及新变异对其的调控导致KCNK9印迹综合征

Margot A Cousin #, Emma L Veale #, Nikita R Dsouza, Swarnendu Tripathi, Robyn G Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

PHIP相关Chung-Jansen综合征:23例新病例报告

Kampmeier, Antje; Leitão, Elsa; Parenti, Ilaria; Beygo, Jasmin; Depienne, Christel; Bramswig, Nuria C; Hsieh, Tzung-Chien; Afenjar, Alexandra; Beck-Wödl, Stefanie; Grasshoff, Ute; Haack, Tobias B; Bijlsma, Emilia K; Ruivenkamp, Claudia; Lausberg, Eva; Elbracht, Miriam; Haanpää, Maria K; Koillinen, Hannele; Heinrich, Uwe; Rost, Imma; Jamra, Rami Abou; Popp, Denny; Koch-Hogrebe, Margarete; Rostasy, Kevin; López-González, Vanesa; Sanchez-Soler, María José; Macedo, Catarina; Schmetz, Ariane; Steinborn, Carmen; Weidensee, Sabine; Lesmann, Hellen; Marbach, Felix; Caro, Pilar; Schaaf, Christian P; Krawitz, Peter; Wieczorek, Dagmar; Kaiser, Frank J; Kuechler, Alma

No evidence for intervention-associated DNA methylation changes in monocytes of patients with posttraumatic stress disorder

没有证据表明创伤后应激障碍患者的单核细胞中存在干预相关的 DNA 甲基化变化

Elisabeth Hummel #, Magdeldin Elgizouli #, Maurizio Sicorello, Elsa Leitão, Jasmin Beygo, Christopher Schröder, Michael Zeschnigk, Svenja Müller, Stephan Herpertz, Dirk Moser, Henrik Kessler, Bernhard Horsthemke, Robert Kumsta

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

FBXO11 中的新生错义变异会改变其蛋白质表达和亚细胞定位

Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, Annick Toutain, Sally Ann Lynch, Karen Stals, Caroline Maxton, Johannes R Lemke, John A Bernat, Hannah M Bombei, Nicola Foulds, David Hunt, Alma Kuechler, Jasmin Beygo, Petra Stöbe, Arjan Bouman, Maria Palomares-Bralo, Fernando Santos-Simarro, Sixto Ga