Plecko, Barbara

CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL

Bartuzi, P., Billadeau, D. D., Favier, R., Rong, S., Dekker, D., Fedoseienko, A., Fieten, H., Wijers, M., Levels, J. H., Huijkman, N., et al. (2016) · Nature Communications

Cholesterol and Lipid MetabolismCellular transport and secretion

Cited by 205

Severe Congenital Heart Defects Are Associated with Global Reduction of Neonatal Brain Volumes

von Rhein, M., Buchmann, A., Hagmann, C., Dave, H., Bernet, V., Scheer, I., Knirsch, W., Latal, B., Bernet, V., Bürki, C., et al. (2015) · The Journal of Pediatrics

Congenital Heart Disease StudiesFetal and Pediatric Neurological Disorders

Cited by 128

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Thorwarth, A., Schnittert-Hübener, S., Schrumpf, P., Müller, I., Jyrch, S., Dame, C., Biebermann, H., Kleinau, G., Katchanov, J., Schuelke, M., et al. (2014) · Journal of Medical Genetics

Genomics and Rare DiseasesDevelopmental Biology and Gene Regulation

Cited by 115

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Study, D. D. D. (., Zweier, M., Begemann, A., McWalter, K., Cho, M. T., Abela, L., Banka, S., Behring, B., Berger, A., Brown, C. W., et al. (2019) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 71

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Abela, L., Spiegel, R., Crowther, L. M., Klein, A., Steindl, K., Papuc, S. M., Joset, P., Zehavi, Y., Rauch, A., Plecko, B., et al. (2017) · PLoS ONE

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 54

N8‐acetylspermidine as a potential plasma biomarker for Snyder‐Robinson syndrome identified by clinical metabolomics

Abela, L., Simmons, L., Steindl, K., Schmitt, B., Mastrangelo, M., Joset, P., Papuc, M., Sticht, H., Baumer, A., Crowther, L. M., et al. (2016) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersMetabolomics and Mass Spectrometry Studies

Cited by 43

Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome

Zandl-Lang, M., Züllig, T., Trötzmüller, M., Naegelin, Y., Abela, L., Wilken, B., Scholl-Buergi, S., Karall, D., Kappos, L., Köfeler, H., et al. (2022) · Metabolites

Genetics and Neurodevelopmental DisordersMetabolomics and Mass Spectrometry Studies

Cited by 30