Myelin protein zero mutation-related hereditary neuropathies : neuropathological insight from a new nerve biopsy cohort
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Brain pathology - ISSN 1015-6305-34:1 (2024) p. 1-20
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
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Brain - ISSN 0006-8950-146:12 (2023) p. 4880-4890
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
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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