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

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异会导致X连锁痉挛性共济失调。

Menden, Benita; Incebacak Eltemur, Rana D; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J; Dufke, Claudia; Regensburger, Martin; Rönnefarth, Maria; Wilke, Vera; van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Küpper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M C; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan; Zittel, Simone; Husain, Ralf A; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen; Timmann, Dagmar; Synofzik, Matthis; van de Warrenburg, Bart; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J; Haack, Tobias B

A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants

型血管性血友病的新病因:双等位基因 MADD 变异导致 Weibel-Palade 小体胞吐受损

Hordijk, Sophie; Groten, Stijn A; Bürgisser, Petra E; Laan, Sebastiaan N J; Korenke, Georg Christoph; Honzík, Tomáš; Beysen, Diane; Leebeek, Frank W G; Skehel, Paul A; van den Biggelaar, Maartje; Carter, Tom; Bierings, Ruben

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

PPP2R5C基因的致病性新生变异会导致Houge-Janssens综合征谱系内的神经发育障碍。

Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle

Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family

病例报告:杂合ADAR c.3019G>A致病变异与四代家族中不同的神经系统症状和不完全外显率相关

Bauer, Ann-Kathrin; Marquardt, Iris; Sundermann, Benedikt; Wolf, Christine; Raupach, Katrin; Grundmann-Hauser, Kathrin; Gieldon, Laura; Otterbach, Maximilian; Maurer, Martin; Haack, Tobias; Lee-Kirsch, Min Ae; Korenke, Georg-Christoph; Hitz, Marc-Phillip

Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types

多国儿科队列中的Sturge-Weber综合征:不同类型的系统分析

Disse, Sigrid; Ramantani, Georgia; Küpper, Hanna; Bock, Annette; Korenke, Georg-Christoph; Weidner, Birgit; Preisel, Martin; Trollmann, Regina; Wiemer-Kruel, Adelheid; Wellmann, Sven; Brockmann, Knut; Schroeder, Simone; Meyer, Sascha

Development of a new COVID-19 panel survey: the IAB high-frequency online personal panel (HOPP)

开发一种新的 COVID-19 小组调查:IAB 高频在线个人小组 (HOPP)

Haas, Georg-Christoph; Müller, Bettina; Osiander, Christopher; Schmidtke, Julia; Trahms, Annette; Volkert, Marieke; Zins, Stefan

Generation of induced pluripotent stem cell (iPSC) lines carrying a heterozygous (UKWMPi002-A-1) and null mutant knockout (UKWMPi002-A-2) of Cadherin 13 associated with neurodevelopmental disorders using CRISPR/Cas9

使用 CRISPR/Cas9 生成携带与神经发育障碍相关的钙粘蛋白 13 杂合子 (UKWMPi002-A-1) 和无效突变敲除 (UKWMPi002-A-2) 的诱导性多能干细胞 (iPSC) 系

Maria Rosaria Vitale, Johanna Eva Maria Zöller, Charline Jansch, Anna Janz, Frank Edenhofer, Eva Klopocki, Daniel van den Hove, Tim Vanmierlo, Olga Rivero, Nael Nadif Kasri, Georg Christoph Ziegler, Klaus-Peter Lesch

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

双等位基因 MADD 变异可导致一系列表型,从发育迟缓到多系统疾病

Pauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy, Daniela Buhas, Stephanie Fox, Jane Juusola, Majid Alfadhel, Bryn D Webb, Emanuele G Coci, Rami Abou Jamra, Manuela Siekmeyer, Saskia Biskup, Corina Heller, Esther M Maier, Poupak Javaher-Haghighi,

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

在具有多种癫痫表型的患者中发现 GABAA 受体亚基 ε 的罕见变异

Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon van Slegtenhorst, Alice S Brooks, Rami Abou Jamra, Georg-Christoph Korenke, John Neidhardt, Marta Owczarek-Lipska

A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy

一名患有智力障碍综合征和癫痫的患者体内发现BCL11A基因的新型从头移码突变

Korenke, Georg Christoph; Schulte, Björn; Biskup, Saskia; Neidhardt, John; Owczarek-Lipska, Marta