Dr. rer. nat. Elisabeth Bosch

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Institute of Human Genetics Professur für Humangenetik
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Types of publications

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Book chapter / Article in edited volumes
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Conference contribution
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Unpublished / Preprint

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Abstract

Journal

A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris syndrome (2026) Schuhmann S, Bosch E, Fink A, Schüssler S, Uebe S, Wiesener A, Ekici AB, et al. Journal article Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia (2026) Mignot C, Papathanasiou Terzi MA, Ravelli C, Bosch E, Lin X, Trauffler A, Caumes R, et al. Journal article The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation (2024) Bosch E, Güse E, Kirchner P, Winterpacht A, Walther M, Alders M, Kerkhof J, et al. Journal article Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals (2023) Bosch E, Popp B, Güse E, Skinner C, van der Sluijs PJ, Maystadt I, Pinto AM, et al. Journal article BDV Syndrome: An Emerging Syndrome with Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome (2021) Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, et al. Journal article Investigating PHF13 induced infertility through single cell transcriptomics and non-vertebrate model organisms (2020) Bosch E, Lukassen S, Gregor A, Ekici AB, Zweier C, Winterpacht A Conference contribution Single-cell RNA sequencing of adult mouse testes (2018) Lukassen S, Bosch E, Ekici AB, Winterpacht A Journal article Characterization of germ cell differentiation in the male mouse through single-cell RNA sequencing (2018) Lukassen S, Bosch E, Ekici AB, Winterpacht A Journal article