Associated Papers
Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.
Stringer BW et al.
Embo Molecular Medicine, 2026
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2025
40898337 (PubMed )
Supplement: 13023_2025_4003_MOESM4_ESM.xlsx › Neurological
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.
Zwartkruis MM et al.
Genome Medicine, 2025
40119448 (PubMed )
Supplement: 13073_2025_1448_MOESM7_ESM.xlsx › Sheet1
A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.
Lin X et al.
Frontiers in Pediatrics, 2024
38832002 (PubMed )
Supplement: Table1.xlsx › filter_variants
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Kleinle S et al.
Journal of Neuromuscular Diseases, 2023
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
32954327 (PubMed )
Supplement: fcaa075_supplementary_data.pdf
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