André Fienemann
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View article: Complementarity of long-read sequencing and optical genome mapping in Parkinson’s disease
Complementarity of long-read sequencing and optical genome mapping in Parkinson’s disease Open
Background With third-generation long-read sequencing (LRS) platforms and optical genome mapping technologies (OGM), the ability to detect large and complex structural variants (SVs) is rapidly advancing. This has led to the discovery of n…
View article: Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase
Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase Open
Sepiapterin Reductase Deficiency (SRD) is a rare inherited neurometabolic disorder caused by variants in the SPR gene, which may lead to developmental delays, psychomotor retardation, and cognitive impairments. Two consanguineous North Afr…
View article: Optical genome mapping of structural variants in Parkinson’s disease-related induced pluripotent stem cells
Optical genome mapping of structural variants in Parkinson’s disease-related induced pluripotent stem cells Open