Bjarne Udd

机构：Tampere University, Vaasa Central Hospital, Tampere University Hospital, Folkhälsans Forskningscentrum

发表论文 964 篇 · 总被引 11084 次 · h-index 56

代表论文

• Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy (2024 · Nature Genetics · 被引 36)
• Twist exome capture allows for lower average sequence coverage in clinical exome sequencing (2023 · Human Genomics · 被引 34)
• HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies (2023 · Autophagy · 被引 28)
• Inferring disease course from differential exon usage in the wide titinopathy spectrum (2024 · Annals of Clinical and Translational Neurology · 被引 15)
• Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 (2023 · Human Genetics and Genomics Advances · 被引 12)
• CACNA1S Variant Associated With a Myalgic Myopathy Phenotype (2023 · Neurology · 被引 10)