Publications by authors named "Matthias Begemann"

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Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants.
Martin Danner, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Jeremias Krause

NAR Genom Bioinform· September 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, Matthias Begemann

medRxiv· September 2025

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Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene.
Robin A Pilz, Matthias Begemann, Surema Pfister, Paranchai Boonsawat, Anita Rauch

Neurogenetics· August 2025

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Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Matthias Begemann

Nat Genet· July 2025

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Vasculopathy with neurological symptoms.
Morna F Schmidt, Jan van der Laden, Matthias Begemann, Amir S Yazdi

J Dtsch Dermatol Ges· May 2025

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Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Matthias Begemann

medRxiv· May 2025

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Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype.
Matthias Begemann, Anna Lengyel, Eva Pinti, Árpád Ferenc Kovács, György Fekete

Clin Epigenetics· April 2025

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Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.
Luise Kessler, Jeremias Krause, Florian Kraft, Asmaa K Amin, Gyorgy Fekete, Matthias Begemann

Clin Genet· March 2025

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Mutational constraint analysis workflow for overlapping short open reading frames and genomic neighbors.
Martin Danner, Matthias Begemann, Florian Kraft, Miriam Elbracht, Ingo Kurth

BMC Genomics· March 2025

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CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants.
Jeremias Krause, Carlos Classen, Daniela Dey, Eva Lausberg, Luise Kessler, Matthias Begemann

BMC Bioinformatics· December 2024

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Benchmarking whole exome sequencing in the German network for personalized medicine.
Michael Menzel, Mihaela Martis-Thiele, Hannah Goldschmid, Alexander Ott, Eva Romanovsky, Matthias Begemann

Eur J Cancer· November 2024

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Brain malformations and seizures by impaired chaperonin function of TRiC.
Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil Zajt, Matthias Begemann

Science· November 2024

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Complex structural variation and nonsense variant cause -related disorder.
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, Johanna Herwig, Eva Lausberg

J Med Genet· August 2024

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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Matthias Begemann

Nat Genet· August 2024

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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Matthias Begemann

NPJ Genom Med· March 2024

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De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, Dominic Lenz, Axel Schmidt, Matthias Begemann

Genet Med· February 2024

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Annette Lischka, Katja Eggermann, Christopher J Record, Maike F Dohrn, Petra Laššuthová, Matthias Begemann

Brain· December 2023

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Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco.
Larissa Mattern, Matthias Begemann, Heide Delbrück, Petra Holschbach, Silvia Schröder

Bone Rep· June 2023

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Imprinting disorders.
Thomas Eggermann, David Monk, Guiomar Perez de Nanclares, Masayo Kagami, Eloïse Giabicani, Matthias Begemann

Nat Rev Dis Primers· June 2023

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Quality assurance within the context of genome diagnostics (a german perspective).
Kraft Florian, Anna Benet-Pagès, Daniel Berner, Anna Teubert, Sebastian Eck, Matthias Begemann

Med Genet· June 2023

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Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria.
Mareike Tometten, Martin Kirschner, Robert Meyer, Matthias Begemann, Insa Halfmeyer

Hemasphere· May 2023

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DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation.
Benjamin Rolles, Robert Meyer, Matthias Begemann, Miriam Elbracht, Edgar Jost

Blood Cancer J· May 2023

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Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.
Larissa Bilo, Eguzkine Ochoa, Sunwoo Lee, Daniela Dey, Ingo Kurth, Matthias Begemann

Clin Epigenetics· March 2023

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Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling.
Felix Schreibing, Monica T Hannani, Hyojin Kim, James S Nagai, Fabio Ticconi, Matthias Begemann

Front Immunol· January 2023

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Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability.
Cordula Knopp, Robin Steiner, Eva Lausberg, Caroline von Hoegen, Sabine Busse, Matthias Begemann

Dtsch Arztebl Int· December 2022

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