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Journal of Clinical Lipidology|May 14, 2022
Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variantsRafael Graça, Ana Catarina Alves, Magdalena Zimon, et al.
JACC. Basic to Translational Science|September 18, 2023
High-Throughput Microscopy Characterization of Rare LDLR VariantsRafael Graça, Magdalena Zimon, Ana C Alves, et al.
Human Molecular Genetics|April 9, 2013
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathyEmil Ylikallio, Rosanna Pöyhönen, Magdalena Zimon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2015
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencingDaliya Kancheva, Derek Atkinson, Peter De Rijk, et al.
American Journal of Human Genetics|December 3, 2014
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2Ellen Cottenie, Andrzej Kochanski, Albena Jordanova, et al.
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