Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage[S] by Carolina Tängemo, Dominik Weber, Susanne Theiss, Eugen Mengel, Heiko Runz

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Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation. by Jonathon Blake, Andrew Riddell, Susanne Theiss, Alexis Perez Gonzalez, Bettina Haase, Anna Jauch, Johannes W G Janssen, David Ibberson, Dinko Pavlinic, Ute Moog, Vladimir Benes, Heiko Runz

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The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1 by Tim Ott, Lilian Kaufmann, Martin Granzow, Katrin Hinderhofer, Claus R. Bartram, Susanne Theiß, Angelika Seitz, Nagarajan Paramasivam, Nagarajan Paramasivam, Angela Schulz, Ute Moog, Martin Blum, Christina M. Evers

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Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome by Derek L. Reznik, Mingxiao V. Yang, Pedro Albelda de la Haza, Antrix Jain, Melanie Spanjaard, Susanne Theiss, Christian P. Schaaf, Anna Malovannaya, Theresa V. Strong, Surabi Veeraragavan, Rodney C. Samaco

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Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. by Aenne S Thormaehlen, Christian Schuberth, Hong-Hee Won, Peter Blattmann, Brigitte Joggerst-Thomalla, Susanne Theiss, Rosanna Asselta, Stefano Duga, Pier Angelica Merlini, Diego Ardissino, Eric S Lander, Stacey Gabriel, Daniel J Rader, Gina M Peloso, Rainer Pepperkok, Sekar Kathiresan, Heiko Runz

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