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

Correction: High-content screening (HCS) workflows for FAIR image data management with OMERO

更正:基于 OMERO 的 FAIR 图像数据管理的高内涵筛选 (HCS) 工作流程

Massei, Riccardo; Busch, Wibke; Serrano-Solano, Beatriz; Bernt, Matthias; Scholz, Stefan; Nicolay, Elena K; Bohring, Hannes; Bumberger, Jan

Leveraging Zebrafish Embryo Phenotypic Observations to Advance Data-Driven Analyses in Toxicology

利用斑马鱼胚胎表型观察推进毒理学中的数据驱动分析

Michaelis, Paul; Klüver, Nils; Aulhorn, Silke; Bohring, Hannes; Bumberger, Jan; Haase, Kristina; Kuhnert, Tobias; Küster, Eberhard; Krüger, Janet; Luckenbach, Till; Massei, Riccardo; Nerlich, Lukas; Petruschke, Sven; Schnicke, Thomas; Schnurpel, Anton; Scholz, Stefan; Schweiger, Nicole; Sielaff, Daniel; Busch, Wibke

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures

剪接体因子 CRNKL1 的复发性新生变异与严重的头小畸形和伴有癫痫发作的脑桥小脑发育不全有关。

Ray Das, Sankalita; Sullivan, Rosie; Ruegg, Mischa S G; Horsfield, Julia; Doran, Jordan; Poke, Gemma; de Vries, Nathalie; Duerinckx, Sarah; Lederer, Damien; Haniffa, Muzhirah; Keng, Wee-Teik; Ch'ng, Gaik-Siew; Parry, David A; Jackson, Andrew P; Sakamoto, Masamune; Matsumoto, Naomichi; Miyake, Noriko; Nabatame, Shin; Taniguchi, Hidetoshi; Wakeling, Emma; Õunap, Katrin; Ilves, Pilvi; Mirzaa, Ghayda; Timms, Andrew; Pao, Emily; Aldinger, Kimberly A; Dobyns, William; Bohring, Axel; Behre, Beate; Calame, Daniel G; Lupski, James R; Pascual, Juan M; Abramowicz, Marc; Gimenez, Gregory; Bicknell, Louise S

High-content screening (HCS) workflows for FAIR image data management with OMERO

使用 OMERO 进行 FAIR 图像数据管理的高内涵筛选 (HCS) 工作流程

Massei, Riccardo; Busch, Wibke; Serrano-Solano, Beatriz; Bernt, Matthias; Scholz, Stefan; Nicolay, Elena K; Bohring, Hannes; Bumberger, Jan

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

MAP3K7基因突变改变TAK1信号复合物的活性,导致额干骺端发育不良

Emma M Wade,Philip B Daniel,Zandra A Jenkins,Aideen McInerney-Leo,Paul Leo,Tim Morgan,Marie Claude Addor,Lesley C Adès,Debora Bertola,Axel Bohring,Erin Carter,Tae-Joon Cho,Hans-Christoph Duba,Elaine Fletcher,Chong A Kim,Deborah Krakow,Eva Morava,Teresa Neuhann,Andrea Superti-Furga,Irma Veenstra-Knol,Dagmar Wieczorek,Louise C Wilson,Raoul C M Hennekam,Andrew J Sutherland-Smith,Tim M Strom,Andrew O M Wilkie,Matthew A Brown,Emma L Duncan,David M Markie,Stephen P Robertson

47 patients with FLNA associated periventricular nodular heterotopia

47例FLNA相关脑室周围结节性异位症患者

Lange, Max; Kasper, Burkhard; Bohring, Axel; Rutsch, Frank; Kluger, Gerhard; Hoffjan, Sabine; Spranger, Stephanie; Behnecke, Anne; Ferbert, Andreas; Hahn, Andreas; Oehl-Jaschkowitz, Barbara; Graul-Neumann, Luitgard; Diepold, Katharina; Schreyer, Isolde; Bernhard, Matthias K; Mueller, Franziska; Siebers-Renelt, Ulrike; Beleza-Meireles, Ana; Uyanik, Goekhan; Janssens, Sandra; Boltshauser, Eugen; Winkler, Juergen; Schuierer, Gerhard; Hehr, Ute

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain

在散发性和家族性肺泡毛细血管发育不良伴肺静脉错位病例中发现的新型FOXF1突变提示其DNA结合域可能发挥作用。

Sen, Partha; Yang, Yaping; Navarro, Colby; Silva, Iris; Szafranski, Przemyslaw; Kolodziejska, Katarzyna E; Dharmadhikari, Avinash V; Mostafa, Hasnaa; Kozakewich, Harry; Kearney, Debra; Cahill, John B; Whitt, Merrissa; Bilic, Masha; Margraf, Linda; Charles, Adrian; Goldblatt, Jack; Gibson, Kathleen; Lantz, Patrick E; Garvin, A Julian; Petty, John; Kiblawi, Zeina; Zuppan, Craig; McConkie-Rosell, Allyn; McDonald, Marie T; Peterson-Carmichael, Stacey L; Gaede, Jane T; Shivanna, Binoy; Schady, Deborah; Friedlich, Philippe S; Hays, Stephen R; Palafoll, Irene Valenzuela; Siebers-Renelt, Ulrike; Bohring, Axel; Finn, Laura S; Siebert, Joseph R; Galambos, Csaba; Nguyen, Lananh; Riley, Melissa; Chassaing, Nicolas; Vigouroux, Adeline; Rocha, Gustavo; Fernandes, Susana; Brumbaugh, Jane; Roberts, Kari; Ho-Ming, Luk; Lo, Ivan F M; Lam, Stephen; Gerychova, Romana; Jezova, Marta; Valaskova, Iveta; Fellmann, Florence; Afshar, Katayoun; Giannoni, Eric; Muhlethaler, Vincent; Liang, Jinlong; Beckmann, Jacques S; Lioy, Janet; Deshmukh, Hitesh; Srinivasan, Lakshmi; Swarr, Daniel T; Sloman, Melissa; Shaw-Smith, Charles; van Loon, Rosa Laura; Hagman, Cecilia; Sznajer, Yves; Barrea, Catherine; Galant, Christine; Detaille, Thierry; Wambach, Jennifer A; Cole, F Sessions; Hamvas, Aaron; Prince, Lawrence S; Diderich, Karin E M; Brooks, Alice S; Verdijk, Robert M; Ravindranathan, Hari; Sugo, Ella; Mowat, David; Baker, Michael L; Langston, Claire; Welty, Stephen; Stankiewicz, Pawel

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

通过引入拷贝数变异分析、非编码外显子和总体变异负荷来提高靶向二代测序的产量:以视网膜营养不良为例

Eisenberger, Tobias; Neuhaus, Christine; Khan, Arif O; Decker, Christian; Preising, Markus N; Friedburg, Christoph; Bieg, Anika; Gliem, Martin; Charbel Issa, Peter; Holz, Frank G; Baig, Shahid M; Hellenbroich, Yorck; Galvez, Alberto; Platzer, Konrad; Wollnik, Bernd; Laddach, Nadja; Ghaffari, Saeed Reza; Rafati, Maryam; Botzenhart, Elke; Tinschert, Sigrid; Börger, Doris; Bohring, Axel; Schreml, Julia; Körtge-Jung, Stefani; Schell-Apacik, Chayim; Bakur, Khadijah; Al-Aama, Jumana Y; Neuhann, Teresa; Herkenrath, Peter; Nürnberg, Gudrun; Nürnberg, Peter; Davis, John S; Gal, Andreas; Bergmann, Carsten; Lorenz, Birgit; Bolz, Hanno J

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

瓦尔登堡综合征1型和2型中发现的新突变谱:对分子遗传诊断的意义

Wildhardt, Gabriele; Zirn, Birgit; Graul-Neumann, Luitgard M; Wechtenbruch, Juliane; Suckfüll, Markus; Buske, Annegret; Bohring, Axel; Kubisch, Christian; Vogt, Stefanie; Strobl-Wildemann, Gertrud; Greally, Marie; Bartsch, Oliver; Steinberger, Daniela

Parallel testing of several genes (panel-testing) in patients with ectodermal dysplasia using next-generation sequencing

利用新一代测序技术对患有外胚层发育不良的患者进行多个基因的平行检测(基因组检测)。

Belfquih, Hatim; El Mostarchid, Brahim; Oukabli, Mohamed; Akhaddar, Ali; Boucetta, Mohammed; Leeb, Tosso; Guazzarotti, L; Tadini, G; Mancini, GE; Giglio, S; Sani, I; Nannini, P; Bosoni, M; Bottero, A; Caimi, A; Morelli, M; Zuccotti, GV; Montanari, M; Callea, M; Battelli, F; Corinaldesi, G; Sapigni, L; Marchetti, C; Piana, G; Fedele, G; Norderyd, J; Reinert, Siegmar; Callea, M; Yavuz, I; Deroma, L; Montanari, M; Clarich, G; Maglione, M; Albertini, E; Garavelli, L; Bergendal, Birgitta; Kovács, G; Endreffy, E; Maróti, Z; Stanford, Clark M; Toupenay, S; de la Dure, M; Razanamihaja, N; Berdal, A; Boy-Lefèvre, M-L; Gal, Andreas; Bücher, K; Kurtz, KS; Callea, M; Maglione, M; Yavuz, I; Deroma, L; Willoughby, CE; Tadini, G; Divekar, D; Huttner, KM; Grange, DK; Klein, OD; Schneider, H; Thesleff, Irma; Schneider, Holm; Callea, M; Grecchi, F; Carinci, F; Mancini, EG; Fete, Timothy J; Huttner, Kenneth; Dietz, J; Kaercher, T; Schneider, AT; Zimmermann, T; Huttner, K; Johnson, R; Schneider, H; Neukam, Friedrich Wilhelm; Bohring, Axel; Gomez, Karla Padilla; Blum, Elzbieta; Itin, Peter H; Hammersen, Johanna E; McAllister, Anita; Kaercher, Thomas; Weber, Heiner; Gaide, Olivier; Gabriel, HD; Decker, E; Gencik, M