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

A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics.

多组学研究揭示,MRPL42 双等位基因变异会导致联合氧化磷酸化缺乏综合征。

Boschann Felix, Kopp Johannes, Römer Susanne, Küchler Oliver, Lyubenova Hristiana, von Kügelgen Nicolai, Hertstein Erik, Hagelstein Lea, Becker Christian, Becker Kerstin, Brachs Sebastian, Mai Knut, Meierhofer David, Seelow Dominik, Mundlos Stefan, Horn Denise, Schuelke Markus, Fischer-Zirnsak Björn

Services for Patients with Rare Genetic Diseases in Germany

德国罕见遗传病患者服务

Schmidtke, Claudia; Kühnen, Peter; Mai, Knut; Mundlos, Christine; Cepus, Jakob Severin; Heider, Nicole; Lipp, Theresa

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia

缺失的酶拯救代谢物是导致罕见骨骼发育不良的原因

Jean Jacobs # ,Hristiana Lyubenova # ,Sven Potelle ,Johannes Kopp ,Isabelle Gerin ,Wing Lee Chan ,Miguel Rodriguez de Los Santos ,Wiebke Hülsemann ,Martin A Mensah ,Valérie Cormier-Daire ,Marieke Joosten ,Hennie T Bruggenwirth ,Kyra E Stuurman ,Valancy Miranda ,Philippe M Campeau ,Lars Wittler ,Julie Graff ,Stefan Mundlos ,Daniel M Ibrahim ,Emile Van Schaftingen ,Björn Fischer-Zirnsak ,Uwe Kornak ,Nadja Ehmke ,Guido T Bommer

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

作者更正:将新一代表型分析技术整合到国家层面的超罕见病患者诊疗框架中,可改进基因诊断并产生新的分子发现。

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias

Enhancer adoption by an LTR retrotransposon generates viral-like particles, causing developmental limb phenotypes.

LTR逆转录转座子对增强子的利用会产生病毒样颗粒,导致肢体发育表型异常

Glaser Juliane, Cova Giulia, Fauler Beatrix, Prada-Medina Cesar A, Stanislas Virginie, Phan Mai H Q, Schöpflin Robert, Aktas Yasmin, Franke Martin, Andrey Guillaume, Bartzoka Natalia, Paliou Christina, Laupert Verena, Chan Wing-Lee, Wittler Lars, Mielke Thorsten, Mundlos Stefan

Comparative single-cell analyses reveal evolutionary repurposing of a conserved gene programme in bat wing development

单细胞比较分析揭示了蝙蝠翅膀发育过程中保守基因程序的进化重用

Magdalena Schindler #,Christian Feregrino #,Silvia Aldrovandi,Bai-Wei Lo,Anna A Monaco,Alessa R Ringel,Ariadna E Morales,Tobias Zehnder,Rose Yinghan Behncke,Juliane Glaser,Alexander Barclay,Guillaume Andrey,Bjørt K Kragesteen,René Hägerling,Stefan A Haas,Martin Vingron,Igor Ulitsky,Marc A Marti-Renom,Julio Hechavarria,Nicolas Fasel,Michael Hiller,Darío G Lupiáñez,Stefan Mundlos,Francisca M Real

Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7

与视网膜营养不良相关的Xq27.1染色体间插入会导致LINC00632和CDR1as/ciRS-7的失调。

Gardner, Jessica C; Jovanovic, Katarina; Ottaviani, Daniele; Melo, Uirá Souto; Jackson, Joshua; Guarascio, Rosellina; Ziaka, Kalliopi; Hau, Kwan-Leong; Lane, Amelia; Taylor, Rachel L; Chai, Niuzheng; Gkertsou, Christina; Fernando, Owen; Piwecka, Monika; Georgiou, Michalis; Mundlos, Stefan; Black, Graeme C; Moore, Anthony T; Michaelides, Michel; Cheetham, Michael E; Hardcastle, Alison J

Absence of Microglial Activation and Maintained Hippocampal Neurogenesis in a Transgenic Mouse Model of Crohn's Disease

克罗恩病转基因小鼠模型中小胶质细胞活化缺失和海马神经发生维持

Masanetz, Rebecca Katharina; Mundlos, Hanna; Stolzer, Iris; Winkler, Jürgen; Günther, Claudia; Süß, Patrick

Multi-tool copy number detection highlights common body size-associated variants in miniature pig breeds from different geographical regions

多工具拷贝数检测突显了来自不同地理区域的小型猪品种中常见的与体型相关的变异

Berghöfer, Jan; Khaveh, Nadia; Mundlos, Stefan; Metzger, Julia

Genome-Wide Demographic Analyses of Balaenid Whales Revealed Complex History of Gene Flow Associated with Past Climate Oscillation

对须鲸进行全基因组人口统计分析揭示了与过去气候波动相关的复杂基因流动历史

Lo, Bai-Wei; Martinez Real, Francisca; Magg, Andreas; Wise, John Pierce Sr; Mundlos, Stefan; Franchini, Paolo