A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
Statland JM, Barohn RJ, McVey AL, Katz JS, Dimachkie MM. Patterns of weakness, classification of motor neuron disease,…
Pathogenic ZNF319 variant disrupts nuclear localization and transcriptional regulation to cause a novel form of autosomal recessive leukodystrophy
van der Knaap MS, Bugiani M. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.…
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle
Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, et al. Function, evolution, and structure…
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia
Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace…
Structural variants in the 3D genome as drivers of disease
Kaschta, D. et al. Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis. Preprint…