Associated Papers
Cryo-EM investigation of ryanodine receptor type 3.
Chen YS et al.
Nature Communications, 2024
39366997 (PubMed )
Supplement: 41467_2024_52998_MOESM1_ESM.pdf
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Al Anazi AH et al.
Human Genomics, 2022
36539902 (PubMed )
Supplement: 40246_2022_444_MOESM2_ESM.xlsx › Epilepsy_Uncertain_variants
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.
Rossi M et al.
Pediatric Neurology, 2017
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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