Exome sequencing in Nigerian children with early‐onset epilepsy syndromes

Authors: Ibitayo Abigail Ademuwagun, Yagoub Adam, Solomon Oladapo Rotimi, Steffen Syrbe, Maximilian Radtke, Julia Hentschel, Johannes R. Lemke, Ezekiel Adebiyi

Source: Epilepsia Open, Vol 10, Iss 1, Pp 222-232 (2025)

Subject Terms: developmental and epileptic encephalopathies, genetic variants, Nigeria, personalized medicine, whole‐exome studies, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2470-9239

Access URL: https://doaj.org/article/12f87c0086914c4ca48aefa29a4b7042

altAFplotter: a web app for reliable UPD detection in NGS diagnostics

Authors: Maximilian Radtke, Johanna Moch, Julia Hentschel, Isabell Schumann

Source: BMC Bioinformatics, Vol 25, Iss 1, Pp 1-5 (2024)

Subject Terms: UPD, UPD-detection, AltAFplotter, NGS-diagnostics, Isodisomy, Heterodisomy, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2105

Access URL: https://doaj.org/article/039ff80e968b4cf7bd0151a0cafccebf

Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis

Authors: Johanna Moch, Maximilian Radtke, Janina Gburek-Augustat, Maike Karnstedt, Senta Schönnagel, Stephan H. Drukewitz, Laura Pilgram, Julia Hentschel, Isabell Schumann

Source: Frontiers in Genetics, Vol 14 (2023)

Subject Terms: uniparental disomy, allele frequency, imprinting, gene regulation, next-generation-sequencing, methylome, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1297754/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/6f91e1c8d10044629367c57e8319a75c

P1377: TRANSCRIPTOME-WIDE ANALYSIS OF T CELLS DURING EX VIVO EXPANSION AS PER CURRENT CAR T CELL MANUFACTURING PROTOCOL REVEALS SPECIFIC CHANGES IN T CELL SIGNALING AND HOMING

Authors: Harish Sudarsanam, Maximilian Radtke, Raymund Buhmann, Vladan Vučinić, Rami Abou-Jamra, Reinhard Henschler

Source: HemaSphere, Vol 7, p e173592c (2023)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000972396.17359.2c; https://doaj.org/toc/2572-9241

Access URL: https://doaj.org/article/a9e7541e13414fbea3da6e7fe54a06bb

Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion

Authors: Marek B. Körner, Akhil Velluva, Linnaeus Bundalian, Maximilian Radtke, Chen-Ching Lin, Pia Zacher, Tobias Bartolomaeus, Anna S. Kirstein, Achmed Mrestani, Nicole Scholz, Konrad Platzer, Anne-Christin Teichmann, Julia Hentschel, Tobias Langenhan, Johannes R. Lemke, Antje Garten, Rami Abou Jamra, Diana Le Duc

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/f0c825a9e8ef41399622f3cfb955f5f9

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Authors: Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee

Source: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)

Subject Terms: KCNK9 imprinting syndrome, TASK3 channel, Neurodevelopmental disorder, Electrophysiology, Computational protein modeling, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/e3306fa1990545148f66b913263d56ba