Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias
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Trends in neurosciences - ISSN 1878-108X-47:3 (2024) p. 227-238
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
Source
Human genetics and genomics advances - ISSN 2666-2477-4:2 (2023) p. 1-19
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Genetics in medicine - ISSN 1098-3600-25:4 (2023) p. 1-15
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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Human genomics - ISSN 1479-7364-17:1 (2023) p. 1-9
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease
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Genetics in medicine - ISSN 1098-3600-24:12 (2022) p. 2487-2500