Dr. rer. nat. Mandy Krumbiegel

Institute of Human Genetics

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 Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability (2021) Neuser S, Brechmann B, Heimer G, Broesse I, Schubert S, O'Grady L, Zech M, et al. Journal article Clinical and molecular delineation of spondylocostal dysostosis type 3 (2021) Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al. Journal article Further clinical and molecular delineation of spondylocostal dysostosis type 3 (2020) Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al. Conference contribution Tetrasomy of SCN2A associated with refractory neonatal epileptic encephalopathy (2020) Krumbiegel M, Trollmann R, Mammadova D, Schnell A, Kraus C, Ekici AB, Reis A, Zweier C Conference contribution Deletion 7q31.2q31.31 segregating in a family with speech and language deficiencies (2020) Rieger M, Krumbiegel M, Reuter M, Schützenberger A, Reis A, Zweier C Conference contribution CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome (2020) Börstler T, Wend H, Krumbiegel M, Kavyanifar A, Wiesmann da Silva Reis A, Lie DC, Winner B, Turan S Journal article, Original article CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome (2020) Börstler T, Wend H, Krumbiegel M, Kavyanifar A, Reis A, Lie DC, Winner B, Turan S Journal article CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome. (2020) Turan S, Winner B, Winner B, Krumbiegel M, Wiesmann da Silva Reis A, Lie DC, Börstler T, et al. Journal article