Dr. rer. nat. Mandy Krumbiegel

Institute of Human Genetics

Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2 (2024) Pauly M, Krumbiegel M, Trumpp S, Braig S, Rupprecht T, Kraus C, Uebe S, et al. Journal article Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue (2023) Tauber CV, Schwarz SC, Rösler TW, Arzberger T, Gentleman S, Windl O, Krumbiegel M, et al. Journal article Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development? (2023) Blum K, Krumbiegel M, Kraus C, Reis A, Hüffmeier U Journal article Aberrant phase separation and nucleolar dysfunction in rare genetic diseases (2023) Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel HL, Reiter AM, et al. Journal article Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay (2023) Rieger M, Moutton S, Verheyen S, Steindl K, Popp B, Leheup B, Bonnet C, et al. Journal article Generation of a homozygous and a heterozygous SNCA gene knockout human-induced pluripotent stem cell line by CRISPR/Cas9 mediated allele-specific tuning of SNCA expression (2022) Schneider Y, Turan S, Koller A, Krumbiegel M, Farrell M, Plotz S, Winkler J, Xiang W Journal article SRD5A3-CDG: Twins with an intragenic tandem duplication (2022) Rieger M, Türk M, Kraus C, Uebe S, Ekici AB, Krumbiegel M, Huchzermeyer C, et al. Journal article Beyond founder and truncting variants in TECPR2-associated disorder (2022) Neuser S, Brechmann B, Heimer G, Brosse I, Schubert S, O'Grady L, Zech M, et al. Conference contribution Microdeletions at 19p13.11 in four individuals with neurodevelopmental delay (2022) Rieger M, Moutton S, Verheyen S, Speicher M, Leheup B, Bonnet C, Steindl K, et al. Conference contribution 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