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Neurology|November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.Nature Communications|October 31, 2019
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3Rahel T Florian, Florian Kraft, Elsa Leitão, et al.Nature Genetics|May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perceptionYa-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.Nature|May 27, 2021
Swarm Learning for decentralized and confidential clinical machine learningStefanie Warnat-Herresthal, Hartmut Schultze, Krishnaprasad Lingadahalli Shastry, et al.Plos Pathogens|December 23, 2024
Systematic assessment of COVID-19 host genetics using whole genome sequencing dataAxel Schmidt, Nicolas Casadei, Fabian Brand, et al.Brain : a Journal of Neurology|September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathiesAnnette Lischka, Katja Eggermann, Christopher J Record, et al.Science (New York, N.Y.)|October 31, 2024
Brain malformations and seizures by impaired chaperonin function of TRiCFlorian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, et al.Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.Research Square|June 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.Pageof 15