Associated Papers
Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing.
Lee S et al.
Journal of Clinical Neurology (seoul, Korea), 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y et al.
Genetics in Medicine Open, 2023
39669259 (PubMed )
Supplement: mmc1.xlsx › ______1
NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome.
Brennan K et al.
Human Molecular Genetics, 2022
Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities.
Kim SH et al.
Pediatric Neurology, 2019
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf
Select a paper to view details