Publikationen von Malte Spielmann

Paola Dimartino, Mariia Zadorozhna, Verónica Yumiceba, Anna Basile, Ilaria Cani, Uirá Souto Melo, Jana Henck, Marjolein Breur, Caterina Tonon, Raffaele Lodi, Alfredo Brusco, Tommaso Pippucci, Foteini-Dionysia Koufi, Elisa Boschetti, Giulia Ramazzotti, Lucia Manzoli, Stefano Ratti, Filippo Pinto E. Vairo, Martin B. Delatycki, Giovanna Vaula, Pietro Cortelli, Marianna Bugiani, Malte Spielmann, and Elisa Giorgio, "Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy," Annals of Neurology 96 (5), 855-870 (2024).

Jelena Pozojevic, Radhika Sivaprasad , Joshua et al Laß, Malte Spielmann, and Nadine C. Hornig, "LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome," Scientific Reports 14 (1), Article 16302 (2024).

Chengxiang Qiu, Beth K. Martin, Ian C. et al Welsh, Malte Spielmann, Stephen A. Murray, Cole Trapnell, and Jay Shendure, "A single-cell time-lapse of mouse prenatal development from gastrula to birth," Nature 626 (8001), 1084-1093 (2024).

Saranya Balachandran, Cesar A. Prada-Medina, Martin A. et al Mensah, and Malte Spielmann, "STIGMA: Single-cell tissue-specific gene prioritization using machine learning," The American Journal of Human Genetics 111 (2), 338-349 (2024).

Xingfan Huang, Jana Henck, Chengxiang Qiu, Varun K. A. Sreenivasan, Saranya Balachandran, Oana V. Amarie, Martin Hrabě de Angelis, Rose Yinghan Behncke, Wing-Lee Chan, Alexandra Despang, Diane E. Dickel, Madeleine Duran, Annette Feuchtinger, Helmut Fuchs, Valerie Gailus-Durner, Natja Haag, Rene Hägerling, Nils Hansmeier, Friederike Hennig, Cooper Marshall, Sudha Rajderkar, Alessa Ringel, Michael I. Robson, Lauren M. Saunders, Patricia da Silva-Buttkus, Nadine Spielmann, Sanjay R. Srivatsan, Sascha Ulferts, Lars Wittler, Yiwen Zhu, Vera M. Kalscheuer, Daniel M. Ibrahim, Ingo Kurth, Uwe Kornak, Axel Visel, Len A. Pennacchio, David R. Beier, Cole Trapnell, Junyue Cao, Jay Shendure, and Malte Spielmann, "Single-cell, whole-embryo phenotyping of mammalian developmental disorders," Nature 623 (7988), 772-781 (2023).

Marius-Konstantin Klever, Eric Sträng , Sara Hetzel, Julius Jungnitsch, Anna Dolnik, Robert Schöpflin, Jens-Florian Schrezenmeier, Felix Schick, Olga Blau, Jörg Westermann, Frank G . Rücker , Zuyao Xia, Konstanze Döhner, Hubert Schrezenmeier, Malte Spielmann, Alexander Meissner, Uirá Souto Melo, Stefan Mundlos, and Lars Bullinger, "AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology," Blood Advances 7 (21), 6520-6531 (2023).

Uirá Souto Melo, Jerome Jatzlau, César A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geißler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, and Malte Spielmann, "Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation," Nature Communications 14 (1), 2034 (2023).

Giulia Cova, Juliane Glaser, Robert Schöpflin, Salaheddine Ali, César A. Prada-Medina, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, and Stefan Mundlos, "Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3," Nature Communications 14, 1475 (2023).

Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhães, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, Alisa M. V. Reiter, Jonas Elsner, Peter Meinecke, Saskia Biskup, Brian H. Y. Chung, Gregor Dombrowsky, Christel Eckmann-Scholz, Marc Phillip Hitz, Alexander Hoischen, Paul-Martin Holterhus, Wiebke Hülsemann, Kimia Kahrizi, Vera M. Kalscheuer, Anita Kan, Mandy Krumbiegel, Ingo Kurth, Jonas Leubner, Ann Carolin Longardt, Jörg D. Moritz, Hossein Najmabadi, Karolina Skipalova, Lot Snijders Blok, Andreas Tzschach, Eberhard Wiedersberg, Martin Zenker, Carla Garcia-Cabau, Rene Buschow, Xavier Salvatella, Matthew L. Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, and Denes Hnisz, "Aberrant phase separation and nucleolar dysfunction in rare genetic diseases," Nature 614 (7948), 564-571 (2023).

Varun K. A. Sreenivasan, Riccardo Dore, Julia Resch, Julia Maier, Carola Dietrich, Jana Henck, Saranya Balachandran, Jens Mittag, and Malte Spielmann, "Single-cell RNA-based phenotyping reveals a pivotal role of thyroid hormone receptor alpha for hypothalamic development," Development 150 (3), Article dev201228 (2023).

Robert Schöpflin, Uirá Souto Melo, Mohammad Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, and Stefan Mundlos, "Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes," Nature Communications 13 (1), 6470 (2022).

Uwe Kornak, Namrata Saha, Boris Keren, Alexander Neumann, Ana Lisa Taylor Tavares, Juliette Piard, Johannes Kopp, João Guilherme Rodrigues Alves, Miguel Rodríguez de los Santos, Naji El Choubassi, Nadja Ehmke, Marten Jäger, Malte Spielmann, Jean Tori Pantel, Elodie Lejeune, Beatrix Fauler, Thorsten Mielke, Jochen Hecht, David Meierhofer, Tim M. Strom, Vincent Laugel, Alexis Brice, Stefan Mundlos, Aida Bertoli-Avella, Peter Bauer, Florian Heyd, Odile Boute, Juliette Dupont, Christel Depienne, Lionel Van Maldergem, and Björn Fischer-Zirnsak, "Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features," GENETICS IN MEDICINE 24 (9), 1927-1940 (2022).

Semra Smajić, César A. Prada-Medina, Zied Landoulsi, Jenny Ghelfi, Sylvie Delcambre, Carola Dietrich, Jana Henck, Saranya Balachandran, Sinthuja Pachchek, Christopher M. Morris, Paul Antony, Bernd Timmermann, Sascha Sauer, Sandro L. Pereira, Jens C. Schwamborn, Patrick May, Anne Grünewald, and Malte Spielmann, "Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state," Brain 145 (3), 964-978 (2022).

Uirá Souto Melo, Juliette Piard, Björn Fischer-Zirnsak, Marius-Konstantin Klever, Robert Schöpflin, Martin Atta Mensah, Manuel Holtgrewe, Francine Arbez-Gindre, Alain Martin, Virginie Guigue, Dominique Gaillard, Emilie Landais, Virginie Roze, Valerie Kremer, Rajeev Ramanah, Christelle Cabrol, Frederike L. Harms, Uwe Kornak, Malte Spielmann, Stefan Mundlos, and Lionel Van Maldergem, "Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus," Human Genetics 140 (10), 1459-1469 (2021).

Magdalena Socha, Anna Sowińska-Seidler, Uirá Souto Melo, Bjørt K. Kragesteen, Martin Franke, Verena Heinrich, Robert Schöpflin, Inga Nagel, Nicolas Gruchy, Stefan Mundlos, Varun K. A. Sreenivasan, Cristina López, Martin Vingron, Ewelina Bukowska-Olech, Malte Spielmann, and Aleksander Jamsheer, "Position effects at the FGF8 locus are associated with femoral hypoplasia," The American Journal of Human Genetics 108 (9), 1725-1734 (2021).

Thomas B. Knudsen, Malte Spielmann, Sean G. Megason, and Elaine M. Faustman, "Single-cell profiling for advancing birth defects research and prevention," Birth Defects Research 113 (7), 546-559 (2021).

Lila Allou, Sara Balzano, Andreas Magg, Mathieu Quinodoz, Beryl Royer-Bertrand, Robert Schöpflin, Wing-Lee Chan, Carlos E. Speck-Martins, Daniel Rocha Carvalho, Luciano Farage, Charles Marques Lourenço, Regina Albuquerque, Srilakshmi Rajagopal, Sheela Nampoothiri, Belinda Campos-Xavier, Carole Chiesa, Florence Niel-Bütschi, Lars Wittler, Bernd Timmermann, Malte Spielmann, Michael Robson, Alessa Ringel, Verena Heinrich, Giulia Cova, Guillaume Andrey , Cesar A. Prada-Medina, Rosanna Pescini-Gobert, Sheila Unger, Luisa Bonafé, Phillip Grote, Carlo Rivolta, Stefan Mundlos, and Andrea Superti-Furga, "Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator," Nature 592 (7852), 93-98 (2021).

Junyue Cao, Diana R. O’Day, Hannah A. Pliner, Paul D. Kingsley, Mei Deng, Riza M. Daza, Michael A. Zager, Kimberly A. Aldinger, Ronnie Blecher-Gonen, Fan Zhang, Malte Spielmann, James Palis, Dan Doherty, Frank J. Steemers, Ian A. Glass, Cole Trapnell, and Jay Shendure, "A human cell atlas of fetal gene expression," Science 370 (6518), eaba7721 (2020).

Jean Tori Pantel, Nurulhuda Hajjir, Magdalena Danyel, Jonas Elsner, Angela Teresa Abad-Perez, Peter Hansen, Stefan Mundlos, Malte Spielmann, Denise Horn, Claus-Eric Ott, and Martin A. Mensah, "Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study," Journal of Medical Internet Research (JMIR) 22 (10), e19263 (2020).

Uirá Souto Melo, Robert Schöpflin, Rocio Acuna-Hidalgo, Martin Atta Mensah, Björn Fischer-Zirnsak, Manuel Holtgrewe, Marius-Konstantin Klever, Seval Türkmen, Verena Heinrich, Ilina Datkhaeva Pluym, Eunice Matoso, Sérgio Bernardo de Sousa, Pedro Louro, Wiebke Hülsemann, Monika Cohen, Andreas Dufke, Anna Latos-Bieleńska, Martin Vingron, Vera Kalscheuer, Fabiola Quintero-Rivera, Malte Spielmann, and Stefan Mundlos, "Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases," The American Journal of Human Genetics 106 (6), 872-884 (2020).