Associated Papers
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D et al.
Jama Network Open, 2024
38386321 (PubMed )
Supplement: jamanetwopen-e240146-s002.xlsx › eTable_2
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Wigby K et al.
American Journal of Medical Genetics. Part A, 2023
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S et al.
American Journal of Human Genetics, 2022
36130591 (PubMed )
Supplement: mmc2.xlsx › Table_S3
An unusual case of microsatellite instability-high/deficient mismatch repair (MSI-H/dMMR) diffuse large B-cell lymphoma revealed by targeted gene sequencing.
Han B et al.
Journal of Pathology and Translational Medicine, 2022
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