Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01
Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder.
Ivaniuk A et al.
Genetics in Medicine Open, 2024
39669599 (PubMed )
Supplement: mmc1.pdf
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.
Olson HE et al.
Pediatric Neurology, 2019
CDKL-5 Encephalopathy in an Indian Girl: Partial Response to the Modified Atkins Diet.
Sharma S et al.
Journal of Pediatric Neurosciences, 0
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