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

Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephaly.

表达突变肌动蛋白基因的脑类器官揭示了小头畸形的细胞机制。

Niehaus Indra, Wilsch-Bräuninger Michaela, Mora-Bermúdez Felipe, Rost Fabian, Bobic-Rasonja Mihaela, Radosevic Velena, Milkovic-Perisa Marija, Wimberger Pauline, Severino Mariasavina, Haase Alexandra, Martin Ulrich, Kuenzel Karolina, Guan Kaomei, Neumann Katrin, Walker Noreen, Schröck Evelin, Jovanov-Milosevic Natasa, Huttner Wieland B, Di Donato Nataliya, Heide Michael

The Baraitser-Winter Cerebrofrontofacial Syndrome Recurrent R196H Variant in Cytoplasmic β-Actin Impairs Its Cellular Polymerization and Stability.

Baraitser-Winter 脑额面综合征复发性 R196H 变异体在细胞质 β-肌动蛋白中损害其细胞聚合和稳定性。

Gráczer Éva, Battirossi Elena, Bozó Tamás, Altorjay Áron Gellért, Pászty Katalin, Harsányi Laura, Greve Johannes N, Pertici Irene, Reconditi Massimo, Di Donato Nataliya, Kellermayer Miklós, Bianco Pasquale, Varga Andrea

Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells

利用新型低Notch活性细胞,改进对临床诊断或疑似阿拉吉尔综合征患者的JAG1和NOTCH2功能变异检测。

Buhl, Nicole; Pfister, Eva-Doreen; Oliveira, Daniel V; Turetti, Fabio; Lurz, Eberhard; Baumann, Ulrich; Di Donato, Nataliya; Illig, Thomas; Skawran, Britta; Andersson, Emma R; Mašek, Jan; Stalke, Amelie

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients

RNU4ATAC相关剪接体病的表型谱:4例新病例及对既往报道患者的综合重新评估

Lovric, Svjetlana; Berking, Ann-Cathrine; Ringshausen, Felix C; Körholz, Julia; Porrmann, Joseph; Hütter, Sylvia; Bräsen, Jan H; di Donato, Nataliya; Schmidt-Ott, Kai M; Witte, Torsten; von Hardenberg, Sandra; Sogkas, Georgios

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

ACTB 和 ACTG1 相关非肌肉肌动蛋白病中的分子基因型-表型相关性

Di Donato, Nataliya; Thom, Andrew; Rump, Andreas; Greve, Johannes N; Cadiñanos, Juan; Calabrò, Rocco Salvatore; Cathey, Sara; Chung, Brian; Cope, Heidi; Costales, Maria; Cuvertino, Sara; Dinkel, Philine; Erripi, Kalliopi; Fry, Andrew E; Garavelli, Livia; Hoffjan, Sabine; Janzarik, Wibke G; Kreimer, Insa; Mancini, Grazia; Marin-Reina, Purificacion; Meinhardt, Andrea; Niehaus, Indra; Pilz, Daniela; Ricca, Ivana; Simarro, Fernando Santos; Schrock, Evelin; Marquardt, Anja; Taft, Manuel H; Tezcan, Kamer; Thunström, Sofia; Verhagen, Judith; Verloes, Alain; Wollnik, Bernd; Krawitz, Peter; Hsieh, Tzung-Chien; Seifert, Michael; Heide, Michael; Lawrence, Catherine B; Roberts, Neil A; Manstein, Dietmar J; Woolf, Adrian S; Banka, Siddharth

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

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.

DIAPH1 的遗传性缺陷揭示了由 α-肌动蛋白调控的 DNA 双链断裂修复途径

Woodward Beth L, Lahiri Sudipta, Chauhan Anoop S, Garcia Marcos Rios, Goodley Lucy E, Clarke Thomas L, Pal Mohinder, Agathanggelou Angelo, Jhujh Satpal S, Ganesh Anil N, Hollins Fay M, Deforie Valentina Galassi, Maroofian Reza, Efthymiou Stephanie, Meinhardt Andrea, Mathew Christopher G, Simpson Michael A, Mefford Heather C, Faqeih Eissa A, Rosenzweig Sergio D, Volpi Stefano, Di Matteo Gigliola, Cancrini Caterina, Scardamaglia Annarita, Shackley Fiona, Davies E Graham, Ibrahim Shahnaz, Arkwright Peter D, Zaki Maha S, Stankovic Tatjana, Taylor A Malcolm R, Mazur Antonina J, Di Donato Nataliya, Houlden Henry, Rothenberg Eli, Stewart Grant S

Cell-free DNA for detection and monitoring of extramedullary AML relapse

利用无细胞DNA检测和监测髓外急性髓系白血病复发

Hupe, Henri C; Wienecke, Clara P; Bartels, Stephan; Schipper, Elisa; Leßmann, Jannika; Lasch, Alina; Bader, Maximilian; Gabdoulline, Razif; Neugebohren, Martin; Dammann, Elke; Kreipe, Hans H; Lehmann, Ulrich; Bergmann, Anke K; Di Donato, Nataliya; Stadler, Michael; Eder, Matthias; Ganser, Arnold; Heidel, Florian H; Thol, Felicitas; Heuser, Michael

Prognostic impact of clonal representation of myelodysplasia-related gene mutations in acute myeloid leukemia

骨髓增生异常综合征相关基因突变克隆表达对急性髓系白血病预后的影响

Mecklenbrauck, Rabea; Borchert, Nora; Gabdoulline, Razif; Poll, Piroska; Funke, Carolin; Brandes, Maximilian; Dallmann, Louisa-Kristin; Fiedler, Walter; Krauter, Jürgen; Trummer, Arne; Hertenstein, Bernd; Müller, Martin; Lübbert, Michael; Schwalenberg, Monika; Voss, Andreas; Di Donato, Nataliya; Bergmann, Anke; Gaidzik, Verena; Döhner, Konstanze; Döhner, Hartmut; Ganser, Arnold; Heidel, Florian H; Thol, Felicitas R; Heuser, Michael

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder

DDX17基因的单等位基因新生突变会导致神经发育障碍

Seaby, Eleanor G; Godwin, Annie; Meyer-Dilhet, Géraldine; Clerc, Valentine; Grand, Xavier; Fletcher, Tia; Monteiro, Laloe; Kerkhofs, Martijn; Carelli, Valerio; Palombo, Flavia; Seri, Marco; Olivucci, Giulia; Grippa, Mina; Ciaccio, Claudia; D'Arrigo, Stefano; Iascone, Maria; Bermudez, Marion; Fischer, Jan; Di Donato, Nataliya; Goesswein, Sophie; Leung, Marco L; Koboldt, Daniel C; Myers, Cortlandt; Arnadottir, Gudny Anna; Stefansson, Kari; Sulem, Patrick; Goldberg, Ethan M; Bruel, Ange-Line; Tran-Mau-Them, Frederic; Willems, Marjolaine; Bjornsson, Hans Tomas; Hognason, Hakon Bjorn; Thorolfsdottir, Eirny Tholl; Agolini, Emanuele; Novelli, Antonio; Zampino, Giuseppe; Onesimo, Roberta; Lachlan, Katherine; Baralle, Diana; Rehm, Heidi L; O'Donnell-Luria, Anne; Courchet, Julien; Guille, Matt; Bourgeois, Cyril F; Ennis, Sarah