Publications by authors named "Isabell Schumann"

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Coincidence of Autoimmune Diabetes Mellitus and Familial Partial Lipodystrophy.
Michelle Krienke, Hartmut H J Schmidt, Janine Buettner, Susanne Tan, Isabell Schumann

JCEM Case Rep· December 2025

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Overview and expansion of CEP85L-associated lissencephaly.
Isabell Schumann, Rami Abou Jamra, Robin-Tobias Jauss, Maike Karnstedt, Ulrich Specht

Eur J Med Genet· October 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Isabell Schumann

medRxiv· September 2025

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Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti.
Simone Ahting, Denny Popp, Henry Oppermann, Vincent Strehlow, Maria Fasshauer, Isabell Schumann

Hum Mutat· July 2025

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/ overexpression impairs neural function.
Marek B Körner, Akhil Velluva, Linnaeus Bundalian, Knut Krohn, Kathleen Schön, Isabell Schumann

J Neurogenet· March 2025

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altAFplotter: a web app for reliable UPD detection in NGS diagnostics.
Maximilian Radtke, Johanna Moch, Julia Hentschel, Isabell Schumann

BMC Bioinformatics· September 2024

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Automatized detection of uniparental disomies in a large cohort.
Johanna Moch, Maximilian Radtke, Thomas Liehr, Thomas Eggermann, Christian Gilissen, Isabell Schumann

Hum Genet· August 2024

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Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in promotor in a case with arthrogryposis.
Johanna Moch, Maximilian Radtke, Janina Gburek-Augustat, Maike Karnstedt, Senta Schönnagel, Isabell Schumann

Front Genet· December 2023

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[Ansprechen einer CARD14-assoziierten papulosquamösen Eruption auf den anti-IL17A-Antikörper Ixekizumab].
Benjamin Klein, Regina Treudler, Konstantin Dumann, Andreas Boldt, Isabell Schumann

J Dtsch Dermatol Ges· April 2023

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Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy.
Janina Gburek-Augustat, Konrad Platzer, Isabell Schumann, Sven Starke, Michael Steven Hershfield

Neuropediatrics· December 2022

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Clinical response of CARD14-associated papulosquamous eruption to an anti-interleukin-17A antibody.
Benjamin Klein, Regina Treudler, Konstantin Dumann, Andreas Boldt, Isabell Schumann

Br J Dermatol· September 2022

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Ethanol-guided behavior in Drosophila larvae.
Isabell Schumann, Michael Berger, Nadine Nowag, Yannick Schäfer, Juliane Saumweber

Sci Rep· June 2021

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The PEDtracker: An Automatic Staging Approach for Larvae.
Isabell Schumann, Tilman Triphan

Front Behav Neurosci· December 2020

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Food restriction reconfigures naïve and learned choice behavior in larvae.
Benita Brünner, Juliane Saumweber, Merve Samur, Denise Weber, Isabell Schumann

J Neurogenet· March 2020

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Origin of ecdysis: fossil evidence from 535-million-year-old scalidophoran worms.
Deng Wang, Jean Vannier, Isabell Schumann, Xing Wang, Xiao-Guang Yang

Proc Biol Sci· July 2019

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Halloween genes in panarthropods and the evolution of the early moulting pathway in Ecdysozoa.
Isabell Schumann, Nathan Kenny, Jerome Hui, Lars Hering, Georg Mayer

R Soc Open Sci· September 2018

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Immunolocalization of Arthropsin in the Onychophoran Euperipatoides rowelli (Peripatopsidae).
Isabell Schumann, Lars Hering, Georg Mayer

Front Neuroanat· August 2016

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Phylogenetic analysis and expression patterns of Pax genes in the onychophoran Euperipatoides rowelli reveal a novel bilaterian Pax subfamily.
Franziska Anni Franke, Isabell Schumann, Lars Hering, Georg Mayer

Evol Dev· May 2015

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