Associated Papers
Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.
Lee S et al.
Npj Genomic Medicine, 2025
41354729 (PubMed )
Supplement: 41525_2025_538_MOESM1_ESM.pdf
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6
The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution.
Nguyen DD et al.
Nature, 2024
39385020 (PubMed )
Supplement: 41586_2024_7955_MOESM11_ESM.xlsx › Figure_3e
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient.
Sithambaram S et al.
American Journal of Medical Genetics. Part A, 2024
Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma.
Green TE et al.
Neurobiology of Disease, 2023
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.
Lai THT et al.
Healthcare (basel, Switzerland), 2022
Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis.
McGlacken-Byrne SM et al.
European Journal of Endocrinology, 2022
Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.
Wen H et al.
Bmc Cancer, 2022
35578198 (PubMed )
Supplement: 12885_2022_9602_MOESM9_ESM.xlsx › Table_S6
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö A et al.
Journal of Human Genetics, 2021
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