Dr. med. Juliane Hoyer

Institute of Human Genetics

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center. (2023) Tögel L, Schubart C, Lettmaier S, Neufert C, Hoyer J, Wolff K, Moskalev E, et al. Journal article Ex Vivo Chromosomal Radiosensitivity Testing in Patients with Pathological Germline Variants in Breast Cancer High-Susceptibility Genes BReast CAncer 1 and BReast CAncer 2 (2023) Zuhair Kassem T, Wunderle M, Kuhlmann L, Rübner M, Hübner H, Hoyer J, Reis A, et al. Journal article Familial acute aortic dissection associated with a novel ACTA2 germline variant (2022) Strecker T, Wiesmueller F, Rudnik-Schoeneborn S, Hoyer J, Wiesmann da Silva Reis A, Weyand M, Agaimy A Journal article Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group (2022) Bakhuizen JJ, Hanson H, Van De Tuin K, Lalloo F, Tischkowitz M, Wadt K, Doergeloh BB, et al. Conference contribution DLG4-related synaptopathy: a new rare brain disorder (2021) Rodriguez-Palmero A, Boerrigter MM, Gomez-Andres D, Aldinger KA, Marcos-Alcalde I, Popp B, Everman DB, et al. Journal article Breast MRI texture analysis for prediction of BRCA-associated genetic risk (2020) Vasileiou G, Costa MJ, Long C, Wetzler I, Hoyer J, Kraus C, Popp B, et al. Journal article Psychiatric Disorders and Distal 21q Deletion-A Case Report (2020) Briegel W, Hoyer J Journal article Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants (2020) Popp B, Erber R, Kraus C, Vasileiou G, Hoyer J, Burghaus S, Hartmann A, et al. Journal article Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? (2019) Vasileiou G, Hoyer J, Thiel C, Schaefer JT, Zapke M, Krumbiegel M, Kraus C, et al. Journal article