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M

Malte Spielmann

university medical center schleswig-holstein

42H指数
205论文数
1.6W被引数
收录论文 87
发表时间
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A 3D Human Bone and Bone Marrow-on-a-Chip Model for In Vitro Bone Remodeling and Immune Cell Maintenance (Adv. Sci. 51/2026)3D人骨与骨髓芯片模型用于体外骨重塑和免疫细胞维持
errAdvanced Science
IF14.1
err2026-09-14
err0
errOAAI
errNina Stelzer; Melanie-Jasmin Ort; Kristian Händler; Emely Bortel; Ioanna Maria Dimitriou; Martin Textor; Georg N. Duda; Janosch Schoon; Uwe Marx; Uwe Kornak; Annika Winter; Bernhard Hesse; Stefanie Donner; Sebastian Hardt; Oliver Klein; Simon Reinke; Malte Spielmann; Sven Geißler
err分享
err收藏
Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI长读测序揭示CPLANE1中隐藏的Alu介导的剪接缺陷，导致VI型口面指综合征
errEuropean Journal of Human Genetics
IF4.6
err2026-09-12
err0
errOAAI
errJelena Pozojevic; Henrike Lisa Sczakiel; Saranya Balachandran; Nathalie Kruse; Martin Atta Mensah; Wiebke Hülsemann; Kristian Händler; Malte Spielmann
err分享
err收藏
Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegiaSOX3位点上的位置效应由染色体间插入引起遗传性痉挛性截瘫
errAmerican Journal of Human Genetics
IF8.1
err2026-07-24
err0
PREAI
errThorkild Terkelsen; Veronica Yumiceba; Joshua Kim; Uirá Souto Melo; Esben Axelgaard; Fabia Febbraro; Anders Vermelin Gunnarsson; Saranya Balachandran; Mikkel Dahl-Jessen; Rikke Christensen; Brock Andrew Peters; null Asan; Thomas Thelle; Mette Nyegaard; Rasmus O. Bak; Mark Denham; Malte Spielmann; Uffe Birk Jensen
err分享
err收藏
A 3D Human Bone and Bone Marrow-on-a-Chip Model for In Vitro Bone Remodeling and Immune Cell Maintenance3D人骨与骨髓芯片模型用于体外骨重塑和免疫细胞维持
errAdvanced Science
IF14.1
err2026-07-06
err0
errOAAI
errNina Stelzer; Melanie-Jasmin Ort; Kristian Händler; Emely Bortel; Ioanna Maria Dimitriou; Martin Textor; Georg N. Duda; Janosch Schoon; Uwe Marx; Uwe Kornak; Annika Winter; Bernhard Hesse; Stefanie Donner; Sebastian Hardt; Oliver Klein; Simon Reinke; Malte Spielmann; Sven Geißler
err分享
err收藏
Missegregation of Chromosome 3 and Generation of Monosomy 3 in the Proliferating Uveal Melanoma Cells Under Hyperglycemia高血糖条件下，增殖性葡萄膜黑色素瘤细胞中染色体3的错分离及单着丝粒染色体3的形成。
errINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
err2025-12-01
err0
errOAAI
errTura, Aysegul; Sonntag, Svenja R.; Bubnoff, Nikolas Christian Cornelius Von; Spielmann, Malte; Grisanti, Salvatore
err分享
err收藏
Germany’s national genomDE strategy德国国家基因组策略
errNature Medicine
IF50
err2025-10-15
err0
PREAI
errAndreas Till; Roman A. Siddiqui; Christian Altbürger; Ronald Schwarz; Tatjana Huebner; Jürgen Wolf; Dorothee Andres; Anika Anker; Stefan Aretz; Tobias B. Haack; Thomas Berlage; Dieter Beule; Melanie Boerries; Ivo Buchhalter; Jens Bussmann; Christoph Engel; Juliane Friedrichs; Stefan Fröhling; Britta Haenisch; Andrea Hahne; Daniel Hübschmann; Friedrich von Kessel; Rudolf Klatt; Simon Kreutzfeldt; Anna Kron; Heiko Krude; Anna Lübbe; Uwe Lührig; Nisar Malek; Christian Mertes; Yvonne Möller; Christine Mundlos; Markus M. Nöthen; Stephan Ossowski; Luca Pötschke; Anna Rasokat; Olaf Riess; Sophia Schade; Peter Schirmacher; Rita Schmutzler; Catharina Scholl; Sebastian C. Semler; Malte Spielmann; Oliver Stegle; Albrecht Stenzinger; Jana Straßburger; Evelin Schröck; Michael Krawczak; Oliver Kohlbacher
err分享
err收藏
Single-Nucleus RNA Sequencing Reveals the Mechanism of Neonatal Hypoxic–Ischemic Encephalopathy and The Neuroprotection Effects of Salvianolic Acid C单核RNA测序揭示了新生儿缺氧缺血性脑病的机制及丹参酸C的神经保护作用
errEngineering
IF11.6
err2025-09-25
err0
errOAAI
errXuan Mou; Lu Li; Xinyue Liu; Aolin Zhang; Tao He; Baofeng Rao; Jiatian Zhang; Renjie Chen; Malte Spielmann; Chi Chiu Wang; Bin Cong; Xiaohui Fan
err分享
err收藏
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis评估基因组测序策略：三联测序、单样本测序及标准检测在罕见病诊断中的应用
errGenome Medicine
IF11.2
err2025-09-19
err0
errOAAI
errDaniel Kaschta; Christina Post; Franziska Gaass; Milad Al-Tawil; Vincent Arriens; Saranya Balachandran; Tobias Bäumer; Valerie Berge; Friederike Birgel; Andreas Dalski; Maike Dittmar; Andre Franke; Sören Franzenburg; Janina Fuß; Bettina Gehring; Rebecca Gembicki; Bianca Greiten; Kristin Grohte; Britta Hanker; Kristian Händler; Lana Harder; Yorck Hellenbroich; Theresia Herget; Gloria Herrmann; Olaf Hiort; Kirstin Hoff; Birga Hoffmann; Nadine Hornig; Irina Hüning; Monika Kautza-Lucht; Juliane Köhler; Anna-Sophie Liegmann; Jasmin Lisfeld; Britt-Sabina Löscher; Nils G. Margraf; Michelle Meyenborg; Anna Möllring; Hiltrud Muhle; Eva Maria Murga Penas; Henning Nommels; Dzhoy Papingi; Imke Poggenburg; Jelena Pozojevic; Philip Rosenstiel; Andreas Recke; Kimberly Roberts; Laelia Rösler; Franka Rust; Maj-Britt Salewski; Katharina Schau-Römer; Christian Schlein; Varun K.A. Sreenivasan; Louiza Toutouna; Caroline Utermann-Thüsing; Amelie T. van der Ven; Alexander E. Volk; Janne Wehnert; Sandra Wilson; Rixa Woitschach; Veronica Yumiceba; Christine Zühlke; Alexander Münchau; Norbert Brüggemann; Inga Vater; Almuth Caliebe; Inga Nagel; Malte Spielmann
err分享
err收藏
Structural variants in the 3D genome as drivers of disease3D基因组中的结构变异是疾病的驱动因素
errNature Reviews Genetics
IF52
err2025-06-30
err0
PREAI
errVarun K. A. Sreenivasan; Verónica Yumiceba; Malte Spielmann
err分享
err收藏
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: 将下一代表型整合到超早期疾病患者的国家框架中，可改善遗传诊断并产生新的分子发现
errNature Genetics
IF0
err2025-06-24
err0
errOAAI
errAxel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner
err分享
err收藏
Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation Syndrome利用长读长测序对分裂手/足畸形综合征中的双等位基因WNT10B变异进行单体型相分型
errCLINICAL GENETICS
IF2.3
err2025-01-18
err0
errOAAI
errPozojevic, Jelena; Kakar, Naseebullah; Sczakiel, Henrike L.; Kruse, Nathalie; Haendler, Kristian; Balachandran, Saranya; Sreenivasan, Varun; Mensah, Martin A.; Spielmann, Malte
err分享
err收藏
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy
errANNALS OF NEUROLOGY
IF7.7
err2024-07-30
err2
errOAAI
errDimartino, Paola; Zadorozhna, Mariia; Yumiceba, Veronica; Basile, Anna; Cani, Ilaria; Melo, Uira Souto; Henck, Jana; Breur, Marjolein; Tonon, Caterina; Lodi, Raffaele; Brusco, Alfredo; Pippucci, Tommaso; Koufi, Foteini-Dionysia; Boschetti, Elisa; Ramazzotti, Giulia; Manzoli, Lucia; Ratti, Stefano; Vairo, Filippo Pinto E.; Delatycki, Martin B.; Vaula, Giovanna; Cortelli, Pietro; Bugiani, Marianna; Spielmann, Malte; Giorgio, Elisa
err分享
err收藏
LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome
errSCIENTIFIC REPORTS
IF3.9
err2024-07-15
err2
errOAAI
errPozojevic, Jelena; Sivaprasad, Radhika; Lass, Joshua; Haarich, Franziska; Trinh, Joanne; Kakar, Naseebullah; Schulz, Kristin; Haendler, Kristian; Verrijn Stuart, Annemarie A.; Giltay, Jacques C.; van Gassen, Koen L.; Caliebe, Almuth; Holterhus, Paul-Martin; Spielmann, Malte; Hornig, Nadine C.
err分享
err收藏
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-06-05
err2
errOAAI
errMaver, Ales; Lohmann, Katja; Borovecki, Fran; Wolstenholme, Nicola; Taylor, Rachel L.; Spielmann, Malte; Haack, Tobias B.; Gerberding, Matthias; Peterlin, Borut; Graessner, Holm
err分享
err收藏
STIGMA: Single-cell tissue-specific gene prioritization using machine learning
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-02-01
err2
errOAAI
errBalachandran, Saranya; Prada-Medina, Cesar A.; Mensah, Martin A.; Glaser, Juliane; Kakar, Naseebullah; Nagel, Inga; Pozojevic, Jelena; Audain, Enrique; Hitz, Marc-Phillip; Kircher, Martin; Sreenivasan, Varun K. A.; Spielmann, Malte
err分享
err收藏
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published familiesHOXD13-associated多指: 扩展和验证了38个新家族和49个已发表家族的基因型和表型谱
errGENETICS IN MEDICINE
IF6.2
err2023-11-01
err1
PREAI
errGottschalk, Annika; Sczakiel, Henrike L.; Huelsemann, Wiebke; Schwartzmann, Sarina; Abad-Perez, Angela T.; Gruenhagen, Johannes; Ott, Claus-Eric; Spielmann, Malte; Horn, Denise; Mundlos, Stefan; Jamsheer, Aleksander; Mensah, Martin A.
err分享
err收藏
AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology具有复杂核型的AML: 结合长读测序和hi-c技术揭示的极端基因组复杂性
errBLOOD ADVANCES
IF7.1
err2023-10-27
err6
errOAAI
errKlever, Marius-Konstantin; Straeng, Eric; Hetzel, Sara; Jungnitsch, Julius; Dolnik, Anna; Schoepffin, Robert; Schrezenmeier, Jens-Florian; Schick, Felix; Blau, Olga; Westermann, Joerg; Ruecker, Frank G.; Xia, Zuyao; Doehner, Konstanze; Schrezenmeier, Hubert; Spielmann, Malte; Meissner, Alexander; Melo, Uira Souto; Mundlos, Stefan; Bullinger, Lars
err分享
err收藏
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation (vol 4, 6301, 2023)
errNATURE COMMUNICATIONS
IF15.7
err2023-10-09
err0
errOAAI
errMelo, Uira Souto; Jatzlau, Jerome; Prada-Medina, Cesar A.; Flex, Elisabetta; Hartmann, Sunhild; Ali, Salaheddine; Schoepflin, Robert; Bernardini, Laura; Ciolfi, Andrea; Moeinzadeh, M-Hossein; Klever, Marius-Konstantin; Altay, Aybuge; Vallecillo-Garcia, Pedro; Carpentieri, Giovanna; Delledonne, Massimo; Ort, Melanie-Jasmin; Schwestka, Marko; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo; Gossen, Manfred; Strunk, Dirk; Geissler, Sven; Mundlos, Stefan; Stricker, Sigmar; Knaus, Petra; Giorgio, Elisa; Spielmann, Malte
err分享
err收藏
Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in LRRK2 p.Gly2019Ser Parkinsonism
errMOVEMENT DISORDERS
IF7.6
err2023-07-21
err2
errOAAI
errLueth, Theresa; Gabbert, Carolin; Koch, Sebastian; Koenig, Inke R.; Caliebe, Amke; Laabs, Bjoern-Hergen; Hentati, Faycel; Ben Sassi, Samia; Amouri, Rim; Spielmann, Malte; Klein, Christine; Gruenewald, Anne; Farrer, Matthew J.; Trinh, Joanne
err分享
err收藏
A complex structural variant near SOX3 causes X-linked split-hand/foot malformation
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2023-07-01
err1
errOAAI
errde Boer, Elke; Marcelis, Carlo; Neveling, Kornelia; van Beusekom, Ellen; Hoischen, Alexander; Klein, Willemijn M.; de Leeuw, Nicole; Mantere, Tuomo; Melo, Uira S.; van Reeuwijk, Jeroen; Smeets, Dominique; Spielmann, Malte; Kleefstra, Tjitske; van Bokhoven, Hans; Vissers, Lisenka E. L. M.
err分享
err收藏

研究方向

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