Associated Papers
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases.
Sinha S et al.
Nature Communications, 2025
40087273 (PubMed )
Supplement: 41467_2025_57695_MOESM3_ESM.xlsx › Supplementary_Data_1
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.
Geysens M et al.
Genome Medicine, 2025
39789644 (PubMed )
Supplement: 13073_2024_1419_MOESM1_ESM.xlsx › Table_S1
A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review.
Li R et al.
Frontiers in Endocrinology, 2021
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30158690 (PubMed )
Supplement: NIHMS973104-supplement-Table_S2.xlsx › Sheet1
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