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The Journal of General Physiology|October 24, 2025
Altered NaV1.9 channel activity in two Tyr66Ser variant carriers with small fiber dysfunctionNoortje W M van den Braak, Samuel Kuehs, Greta Z Peschke, et al.Deutsches Arzteblatt International|March 19, 2026
Exome and Genome Sequencing for the Diagnosis of Rare DiseasesMiriam Elbracht, Jeremias Krause, Larissa Mattern, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 11, 2013
CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individualsFlorian Barvencik, Ingo Kurth, Till Koehne, et al.Plos Genetics|December 25, 2013
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal systemMukhran Khundadze, Katrin Kollmann, Nicole Koch, et al.Translational Psychiatry|February 16, 2023
Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRIArnim J Gaebler, Nilüfer Fakour, Felix Stöhr, et al.Plos Genetics|August 19, 2015
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11Rita-Eva Varga, Mukhran Khundadze, Markus Damme, et al.American Journal of Human Genetics|May 10, 2011
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing lossAntje K Huebner, Marta Gandia, Peter Frommolt, et al.The Journal of Clinical Investigation|September 21, 2013
A spastic paraplegia mouse model reveals REEP1-dependent ER shapingChristian Beetz, Nicole Koch, Mukhran Khundadze, et al.Leukemia|May 12, 2018
Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenitaMartin Kirschner, Angela Maurer, Marcin W Wlodarski, et al.Clinical Genetics|June 30, 2025
Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial DiseaseMahmoud R Fassad, Sebastian Valenzuela, Monika Oláhová, et al.Pageof 15